Incidental Mutation 'R1678:Fgfr2'
| ID |
188275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr2
|
| Ensembl Gene |
ENSMUSG00000030849 |
| Gene Name |
fibroblast growth factor receptor 2 |
| Synonyms |
KGFRTr, svs, Bek, Fgfr-2, Fgfr2b, Fgfr-7, Fgfr7 |
| MMRRC Submission |
039714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1678 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129764181-129868538 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 129830350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117073]
[ENSMUST00000117073]
[ENSMUST00000117089]
[ENSMUST00000117089]
[ENSMUST00000117357]
[ENSMUST00000117357]
[ENSMUST00000117691]
[ENSMUST00000117691]
[ENSMUST00000117754]
[ENSMUST00000117858]
[ENSMUST00000117858]
[ENSMUST00000117872]
[ENSMUST00000122054]
[ENSMUST00000118296]
[ENSMUST00000118296]
[ENSMUST00000119260]
[ENSMUST00000119260]
[ENSMUST00000120141]
[ENSMUST00000120141]
[ENSMUST00000120187]
[ENSMUST00000120715]
[ENSMUST00000120715]
[ENSMUST00000121080]
[ENSMUST00000121080]
[ENSMUST00000122448]
[ENSMUST00000122448]
[ENSMUST00000153166]
[ENSMUST00000124096]
[ENSMUST00000121064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000117073
|
| SMART Domains |
Protein: ENSMUSP00000112672
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
234 |
7.41e-7 |
SMART |
|
transmembrane domain
|
260 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
TyrKc
|
364 |
640 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117073
|
| SMART Domains |
Protein: ENSMUSP00000112672
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
234 |
7.41e-7 |
SMART |
|
transmembrane domain
|
260 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
TyrKc
|
364 |
640 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117089
|
| SMART Domains |
Protein: ENSMUSP00000112992
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
439 |
N/A |
INTRINSIC |
|
TyrKc
|
480 |
756 |
4.38e-152 |
SMART |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117089
|
| SMART Domains |
Protein: ENSMUSP00000112992
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
439 |
N/A |
INTRINSIC |
|
TyrKc
|
480 |
756 |
4.38e-152 |
SMART |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117357
|
| SMART Domains |
Protein: ENSMUSP00000112580
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
TyrKc
|
365 |
641 |
4.38e-152 |
SMART |
|
low complexity region
|
669 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117357
|
| SMART Domains |
Protein: ENSMUSP00000112580
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
TyrKc
|
365 |
641 |
4.38e-152 |
SMART |
|
low complexity region
|
669 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117691
|
| SMART Domains |
Protein: ENSMUSP00000113180
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
482 |
758 |
4.38e-152 |
SMART |
|
low complexity region
|
786 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117691
|
| SMART Domains |
Protein: ENSMUSP00000113180
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
482 |
758 |
4.38e-152 |
SMART |
|
low complexity region
|
786 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117754
|
| SMART Domains |
Protein: ENSMUSP00000113187
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
136 |
7.41e-7 |
SMART |
|
transmembrane domain
|
162 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
227 |
N/A |
INTRINSIC |
|
TyrKc
|
268 |
544 |
4.38e-152 |
SMART |
|
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117858
|
| SMART Domains |
Protein: ENSMUSP00000112623
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
482 |
758 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117858
|
| SMART Domains |
Protein: ENSMUSP00000112623
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
347 |
1.9e-4 |
SMART |
|
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
482 |
758 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117872
|
| SMART Domains |
Protein: ENSMUSP00000113994
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
IGc2
|
74 |
142 |
4.66e-13 |
SMART |
|
IGc2
|
173 |
253 |
7.41e-7 |
SMART |
|
transmembrane domain
|
279 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
TyrKc
|
383 |
659 |
4.38e-152 |
SMART |
|
low complexity region
|
687 |
701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122054
|
| SMART Domains |
Protein: ENSMUSP00000112430
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
59 |
N/A |
INTRINSIC |
|
IGc2
|
72 |
133 |
6.59e-13 |
SMART |
|
low complexity region
|
148 |
165 |
N/A |
INTRINSIC |
|
IGc2
|
189 |
257 |
4.66e-13 |
SMART |
|
IGc2
|
288 |
368 |
7.41e-7 |
SMART |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
459 |
N/A |
INTRINSIC |
|
TyrKc
|
500 |
776 |
4.38e-152 |
SMART |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118296
|
| SMART Domains |
Protein: ENSMUSP00000112471
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
IGc2
|
81 |
149 |
4.66e-13 |
SMART |
|
IGc2
|
180 |
258 |
1.9e-4 |
SMART |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
TyrKc
|
393 |
669 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118296
|
| SMART Domains |
Protein: ENSMUSP00000112471
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
IGc2
|
81 |
149 |
4.66e-13 |
SMART |
|
IGc2
|
180 |
258 |
1.9e-4 |
SMART |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
|
TyrKc
|
393 |
669 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119260
|
| SMART Domains |
Protein: ENSMUSP00000113010
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
349 |
7.41e-7 |
SMART |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
|
TyrKc
|
479 |
755 |
4.38e-152 |
SMART |
|
low complexity region
|
783 |
797 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119260
|
| SMART Domains |
Protein: ENSMUSP00000113010
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
IGc2
|
269 |
349 |
7.41e-7 |
SMART |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
|
TyrKc
|
479 |
755 |
4.38e-152 |
SMART |
|
low complexity region
|
783 |
797 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120141
|
| SMART Domains |
Protein: ENSMUSP00000113415
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
IGc2
|
81 |
149 |
4.66e-13 |
SMART |
|
IGc2
|
180 |
258 |
1.9e-4 |
SMART |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
TyrKc
|
391 |
667 |
4.38e-152 |
SMART |
|
low complexity region
|
695 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120141
|
| SMART Domains |
Protein: ENSMUSP00000113415
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
IGc2
|
81 |
149 |
4.66e-13 |
SMART |
|
IGc2
|
180 |
258 |
1.9e-4 |
SMART |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
TyrKc
|
391 |
667 |
4.38e-152 |
SMART |
|
low complexity region
|
695 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120187
|
| SMART Domains |
Protein: ENSMUSP00000113248
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
IGc2
|
74 |
142 |
4.66e-13 |
SMART |
|
IGc2
|
173 |
251 |
1.9e-4 |
SMART |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
345 |
N/A |
INTRINSIC |
|
TyrKc
|
386 |
662 |
4.38e-152 |
SMART |
|
low complexity region
|
690 |
704 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120715
|
| SMART Domains |
Protein: ENSMUSP00000113474
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
328 |
N/A |
INTRINSIC |
|
TyrKc
|
369 |
645 |
4.38e-152 |
SMART |
|
low complexity region
|
673 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120715
|
| SMART Domains |
Protein: ENSMUSP00000113474
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
IGc2
|
53 |
114 |
6.59e-13 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
IGc2
|
170 |
238 |
4.66e-13 |
SMART |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
328 |
N/A |
INTRINSIC |
|
TyrKc
|
369 |
645 |
4.38e-152 |
SMART |
|
low complexity region
|
673 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121080
|
| SMART Domains |
Protein: ENSMUSP00000112585
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
326 |
N/A |
INTRINSIC |
|
TyrKc
|
367 |
643 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121080
|
| SMART Domains |
Protein: ENSMUSP00000112585
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
326 |
N/A |
INTRINSIC |
|
TyrKc
|
367 |
643 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122448
|
| SMART Domains |
Protein: ENSMUSP00000113993
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
TyrKc
|
365 |
641 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122448
|
| SMART Domains |
Protein: ENSMUSP00000113993
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
55 |
123 |
4.66e-13 |
SMART |
|
IGc2
|
154 |
232 |
1.9e-4 |
SMART |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
TyrKc
|
365 |
641 |
4.38e-152 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127091
|
| SMART Domains |
Protein: ENSMUSP00000122856
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:I-set
|
3 |
56 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153166
|
| SMART Domains |
Protein: ENSMUSP00000120100
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
59 |
N/A |
INTRINSIC |
|
IGc2
|
72 |
133 |
6.59e-13 |
SMART |
|
low complexity region
|
148 |
165 |
N/A |
INTRINSIC |
|
IGc2
|
189 |
257 |
4.66e-13 |
SMART |
|
SCOP:d1ev2e1
|
269 |
311 |
1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121064
|
| SMART Domains |
Protein: ENSMUSP00000113452
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
56 |
134 |
1.9e-4 |
SMART |
|
transmembrane domain
|
163 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
228 |
N/A |
INTRINSIC |
|
TyrKc
|
269 |
545 |
4.38e-152 |
SMART |
|
low complexity region
|
573 |
587 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,554,594 (GRCm39) |
I120S |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,929,064 (GRCm39) |
|
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
| Acnat2 |
T |
A |
4: 49,380,568 (GRCm39) |
Y270F |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,756,301 (GRCm39) |
I548T |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,764,892 (GRCm39) |
|
probably null |
Het |
| Asb17 |
C |
T |
3: 153,550,004 (GRCm39) |
S12F |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 5,015,899 (GRCm39) |
V542I |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,096,239 (GRCm38) |
F515L |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,779,348 (GRCm39) |
L680P |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,750,562 (GRCm39) |
R351H |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,962,624 (GRCm39) |
F26S |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,517,802 (GRCm38) |
|
probably null |
Het |
| Capza1 |
G |
T |
3: 104,771,669 (GRCm39) |
S9* |
probably null |
Het |
| Ccl11 |
C |
T |
11: 81,948,866 (GRCm39) |
P25L |
probably damaging |
Het |
| Cdyl |
A |
T |
13: 36,040,872 (GRCm39) |
K306N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,579 (GRCm39) |
V471A |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,464,380 (GRCm39) |
K983E |
unknown |
Het |
| Cp |
A |
C |
3: 20,026,881 (GRCm39) |
K436N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,968,252 (GRCm39) |
D3125V |
possibly damaging |
Het |
| Daw1 |
A |
T |
1: 83,161,087 (GRCm39) |
N143I |
probably damaging |
Het |
| Dmd |
T |
A |
X: 84,018,368 (GRCm39) |
I3067N |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,656,193 (GRCm39) |
V105A |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 117,897,580 (GRCm39) |
N3550T |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,378,828 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,632,096 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
A |
G |
12: 116,189,590 (GRCm39) |
S640P |
probably damaging |
Het |
| Efemp1 |
G |
A |
11: 28,866,942 (GRCm39) |
E325K |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,815,096 (GRCm39) |
T85A |
probably benign |
Het |
| Faim2 |
C |
A |
15: 99,418,217 (GRCm39) |
V123F |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,810,718 (GRCm39) |
E184G |
probably damaging |
Het |
| Fnd3c2 |
T |
C |
X: 105,281,305 (GRCm39) |
T799A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,427,359 (GRCm39) |
D2931G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,689 (GRCm39) |
T4141A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,344,705 (GRCm39) |
M546K |
probably benign |
Het |
| Gm21775 |
G |
A |
Y: 10,553,867 (GRCm39) |
V139M |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,778,145 (GRCm39) |
V172F |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,499 (GRCm39) |
C740F |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,344,438 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,903,281 (GRCm39) |
L143P |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,501,283 (GRCm39) |
V248A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,117,150 (GRCm39) |
Y2482H |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,360,885 (GRCm39) |
|
probably null |
Het |
| Lclat1 |
G |
A |
17: 73,503,715 (GRCm39) |
G162R |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,305 (GRCm39) |
V26A |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,663,050 (GRCm39) |
D107V |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,355,121 (GRCm39) |
V304D |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,879,395 (GRCm39) |
|
probably benign |
Het |
| Napg |
T |
C |
18: 63,117,143 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,299,493 (GRCm39) |
F7L |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,774,582 (GRCm39) |
T825A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,775,222 (GRCm39) |
I353T |
probably damaging |
Het |
| Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
| Nxf3 |
T |
C |
X: 134,976,270 (GRCm39) |
D407G |
probably damaging |
Het |
| Or51f2 |
T |
A |
7: 102,526,870 (GRCm39) |
V181E |
probably damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,933 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,313,193 (GRCm39) |
|
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,852,811 (GRCm39) |
T172A |
possibly damaging |
Het |
| Pcdh10 |
G |
T |
3: 45,336,316 (GRCm39) |
E877* |
probably null |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,682 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,648,115 (GRCm39) |
S419P |
probably damaging |
Het |
| Prex2 |
T |
G |
1: 11,355,313 (GRCm39) |
I1538S |
possibly damaging |
Het |
| Prss59 |
C |
A |
6: 40,906,453 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
A |
G |
11: 5,009,815 (GRCm39) |
E121G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,372 (GRCm39) |
T754A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,785,952 (GRCm39) |
V156A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,815,579 (GRCm39) |
Y104N |
probably damaging |
Het |
| Sctr |
G |
T |
1: 119,964,169 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,800,525 (GRCm39) |
Y2247H |
probably damaging |
Het |
| Sqle |
C |
T |
15: 59,196,358 (GRCm39) |
R384W |
probably damaging |
Het |
| Srcin1 |
C |
A |
11: 97,409,470 (GRCm39) |
R1163L |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,128,154 (GRCm39) |
Y125C |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,037,960 (GRCm39) |
S1535P |
probably benign |
Het |
| Sumf2 |
A |
G |
5: 129,883,557 (GRCm39) |
E125G |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,490 (GRCm39) |
I77F |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tcp1 |
T |
A |
17: 13,139,310 (GRCm39) |
N212K |
probably benign |
Het |
| Ttc7 |
G |
T |
17: 87,669,329 (GRCm39) |
G659C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,691,903 (GRCm39) |
|
probably null |
Het |
| Ubtf |
A |
T |
11: 102,199,804 (GRCm39) |
D440E |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,207 (GRCm39) |
D428G |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,513,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,371,038 (GRCm39) |
D281G |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,765 (GRCm39) |
S174P |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 13,011,337 (GRCm39) |
T4A |
probably benign |
Het |
|
| Other mutations in Fgfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Fgfr2
|
APN |
7 |
129,769,441 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL00594:Fgfr2
|
APN |
7 |
129,830,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Fgfr2
|
APN |
7 |
129,830,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01968:Fgfr2
|
APN |
7 |
129,786,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Fgfr2
|
APN |
7 |
129,820,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Fgfr2
|
APN |
7 |
129,769,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Fgfr2
|
APN |
7 |
129,779,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Fgfr2
|
APN |
7 |
129,844,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02630:Fgfr2
|
APN |
7 |
129,830,525 (GRCm39) |
splice site |
probably null |
|
|
IGL02639:Fgfr2
|
APN |
7 |
129,830,532 (GRCm39) |
splice site |
probably benign |
|
|
IGL03058:Fgfr2
|
APN |
7 |
129,784,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Fgfr2
|
APN |
7 |
129,782,149 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03377:Fgfr2
|
APN |
7 |
129,800,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0048:Fgfr2
|
UTSW |
7 |
129,782,218 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Fgfr2
|
UTSW |
7 |
129,782,218 (GRCm39) |
splice site |
probably benign |
|
|
R0078:Fgfr2
|
UTSW |
7 |
129,802,805 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0085:Fgfr2
|
UTSW |
7 |
129,797,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0278:Fgfr2
|
UTSW |
7 |
129,863,592 (GRCm39) |
splice site |
probably null |
|
|
R0335:Fgfr2
|
UTSW |
7 |
129,797,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0557:Fgfr2
|
UTSW |
7 |
129,820,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Fgfr2
|
UTSW |
7 |
129,828,969 (GRCm39) |
intron |
probably benign |
|
|
R0637:Fgfr2
|
UTSW |
7 |
129,773,354 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0841:Fgfr2
|
UTSW |
7 |
130,373,737 (GRCm39) |
unclassified |
probably benign |
|
|
R0841:Fgfr2
|
UTSW |
7 |
129,863,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1646:Fgfr2
|
UTSW |
7 |
129,844,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Fgfr2
|
UTSW |
7 |
129,782,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Fgfr2
|
UTSW |
7 |
129,800,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2393:Fgfr2
|
UTSW |
7 |
129,828,968 (GRCm39) |
splice site |
probably null |
|
|
R3706:Fgfr2
|
UTSW |
7 |
129,800,161 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3717:Fgfr2
|
UTSW |
7 |
129,784,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Fgfr2
|
UTSW |
7 |
129,801,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3945:Fgfr2
|
UTSW |
7 |
129,779,485 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4438:Fgfr2
|
UTSW |
7 |
129,774,660 (GRCm39) |
nonsense |
probably null |
|
|
R4718:Fgfr2
|
UTSW |
7 |
129,863,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Fgfr2
|
UTSW |
7 |
129,786,923 (GRCm39) |
intron |
probably benign |
|
|
R4925:Fgfr2
|
UTSW |
7 |
129,787,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Fgfr2
|
UTSW |
7 |
129,843,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Fgfr2
|
UTSW |
7 |
129,800,175 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4980:Fgfr2
|
UTSW |
7 |
129,802,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Fgfr2
|
UTSW |
7 |
129,769,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Fgfr2
|
UTSW |
7 |
129,842,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5375:Fgfr2
|
UTSW |
7 |
129,842,945 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5652:Fgfr2
|
UTSW |
7 |
129,863,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Fgfr2
|
UTSW |
7 |
129,830,420 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6347:Fgfr2
|
UTSW |
7 |
129,863,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Fgfr2
|
UTSW |
7 |
129,769,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Fgfr2
|
UTSW |
7 |
129,802,850 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6481:Fgfr2
|
UTSW |
7 |
129,787,008 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6494:Fgfr2
|
UTSW |
7 |
129,800,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Fgfr2
|
UTSW |
7 |
129,802,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7246:Fgfr2
|
UTSW |
7 |
129,844,136 (GRCm39) |
|
|
|
|
R7937:Fgfr2
|
UTSW |
7 |
129,820,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Fgfr2
|
UTSW |
7 |
129,787,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8007:Fgfr2
|
UTSW |
7 |
129,765,719 (GRCm39) |
nonsense |
probably null |
|
|
R8189:Fgfr2
|
UTSW |
7 |
129,774,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8430:Fgfr2
|
UTSW |
7 |
129,765,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Fgfr2
|
UTSW |
7 |
129,765,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8489:Fgfr2
|
UTSW |
7 |
129,769,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8776:Fgfr2
|
UTSW |
7 |
129,798,002 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8776-TAIL:Fgfr2
|
UTSW |
7 |
129,798,002 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9338:Fgfr2
|
UTSW |
7 |
129,863,561 (GRCm39) |
nonsense |
probably null |
|
|
R9340:Fgfr2
|
UTSW |
7 |
129,782,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Fgfr2
|
UTSW |
7 |
129,765,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Fgfr2
|
UTSW |
7 |
129,779,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0024:Fgfr2
|
UTSW |
7 |
129,787,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Fgfr2
|
UTSW |
7 |
129,771,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fgfr2
|
UTSW |
7 |
129,800,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAATTCCACCCTCACAGGCTGG -3'
(R):5'- GTACTGGACCAACACCGAGAAGATG -3'
Sequencing Primer
(F):5'- ACCAGTTCAGGTTTTACAGGC -3'
(R):5'- ATGGAGAAGCGGCTCCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation