Incidental Mutation 'R4513:Fgfr3'
ID |
334506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgfr3
|
Ensembl Gene |
ENSMUSG00000054252 |
Gene Name |
fibroblast growth factor receptor 3 |
Synonyms |
sam3, Fgfr-3, HBGFR |
MMRRC Submission |
041759-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R4513 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 33880460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000202138]
[ENSMUST00000201437]
[ENSMUST00000171509]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067150
|
SMART Domains |
Protein: ENSMUSP00000070998 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
TyrKc
|
466 |
742 |
3.14e-153 |
SMART |
low complexity region
|
765 |
781 |
N/A |
INTRINSIC |
low complexity region
|
789 |
798 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087820
|
SMART Domains |
Protein: ENSMUSP00000085122 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
IGc2
|
143 |
211 |
1.2e-15 |
SMART |
IGc2
|
242 |
322 |
3.28e-8 |
SMART |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
TyrKc
|
448 |
724 |
3.14e-153 |
SMART |
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
low complexity region
|
771 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114411
|
SMART Domains |
Protein: ENSMUSP00000110053 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
IGc2
|
260 |
339 |
2.77e-6 |
SMART |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
TyrKc
|
468 |
744 |
3.14e-153 |
SMART |
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134610
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155002
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164207
|
SMART Domains |
Protein: ENSMUSP00000133064 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
TyrKc
|
467 |
743 |
3.14e-153 |
SMART |
low complexity region
|
766 |
782 |
N/A |
INTRINSIC |
low complexity region
|
790 |
799 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169212
|
SMART Domains |
Protein: ENSMUSP00000130856 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
IGc2
|
260 |
340 |
3.28e-8 |
SMART |
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
TyrKc
|
466 |
742 |
3.14e-153 |
SMART |
low complexity region
|
765 |
781 |
N/A |
INTRINSIC |
low complexity region
|
789 |
798 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202923
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202138
|
SMART Domains |
Protein: ENSMUSP00000143945 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
IGc2
|
143 |
211 |
1.2e-15 |
SMART |
IGc2
|
242 |
322 |
3.28e-8 |
SMART |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
TyrKc
|
448 |
724 |
3.14e-153 |
SMART |
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
low complexity region
|
771 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202182
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201437
|
SMART Domains |
Protein: ENSMUSP00000144379 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
2e-6 |
SMART |
Pfam:Ig_3
|
144 |
194 |
2.1e-3 |
PFAM |
Pfam:I-set
|
153 |
194 |
9.2e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171509
|
SMART Domains |
Protein: ENSMUSP00000131845 Gene: ENSMUSG00000054252
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
50 |
114 |
5.01e-4 |
SMART |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
IGc2
|
161 |
229 |
1.2e-15 |
SMART |
IGc2
|
260 |
339 |
2.77e-6 |
SMART |
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
TyrKc
|
468 |
744 |
3.14e-153 |
SMART |
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A 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 family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] PHENOTYPE: Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
probably benign |
Het |
|
Other mutations in Fgfr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00705:Fgfr3
|
APN |
5 |
33,892,484 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01585:Fgfr3
|
APN |
5 |
33,891,305 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03266:Fgfr3
|
APN |
5 |
33,891,709 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03285:Fgfr3
|
APN |
5 |
33,892,557 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Fgfr3
|
UTSW |
5 |
33,889,576 (GRCm39) |
missense |
probably benign |
0.13 |
R0543:Fgfr3
|
UTSW |
5 |
33,887,054 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R0604:Fgfr3
|
UTSW |
5 |
33,890,126 (GRCm39) |
missense |
probably damaging |
0.99 |
R1496:Fgfr3
|
UTSW |
5 |
33,887,094 (GRCm39) |
missense |
probably damaging |
0.96 |
R1861:Fgfr3
|
UTSW |
5 |
33,887,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R2919:Fgfr3
|
UTSW |
5 |
33,891,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R2920:Fgfr3
|
UTSW |
5 |
33,891,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4361:Fgfr3
|
UTSW |
5 |
33,880,676 (GRCm39) |
intron |
probably benign |
|
R4506:Fgfr3
|
UTSW |
5 |
33,887,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Fgfr3
|
UTSW |
5 |
33,892,330 (GRCm39) |
unclassified |
probably benign |
|
R5240:Fgfr3
|
UTSW |
5 |
33,887,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R5251:Fgfr3
|
UTSW |
5 |
33,892,900 (GRCm39) |
unclassified |
probably benign |
|
R5454:Fgfr3
|
UTSW |
5 |
33,880,642 (GRCm39) |
intron |
probably benign |
|
R5595:Fgfr3
|
UTSW |
5 |
33,887,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R5984:Fgfr3
|
UTSW |
5 |
33,887,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Fgfr3
|
UTSW |
5 |
33,889,503 (GRCm39) |
missense |
probably benign |
0.35 |
R6985:Fgfr3
|
UTSW |
5 |
33,892,785 (GRCm39) |
missense |
probably null |
1.00 |
R7106:Fgfr3
|
UTSW |
5 |
33,888,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7221:Fgfr3
|
UTSW |
5 |
33,890,092 (GRCm39) |
frame shift |
probably null |
|
R7319:Fgfr3
|
UTSW |
5 |
33,885,146 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7373:Fgfr3
|
UTSW |
5 |
33,885,034 (GRCm39) |
missense |
probably benign |
0.00 |
R7497:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
R7498:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
R7499:Fgfr3
|
UTSW |
5 |
33,892,766 (GRCm39) |
frame shift |
probably null |
|
R7883:Fgfr3
|
UTSW |
5 |
33,891,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Fgfr3
|
UTSW |
5 |
33,891,250 (GRCm39) |
missense |
probably damaging |
0.98 |
R8179:Fgfr3
|
UTSW |
5 |
33,885,099 (GRCm39) |
missense |
probably benign |
0.00 |
R8422:Fgfr3
|
UTSW |
5 |
33,892,249 (GRCm39) |
nonsense |
probably null |
|
R8935:Fgfr3
|
UTSW |
5 |
33,892,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R9179:Fgfr3
|
UTSW |
5 |
33,887,316 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9368:Fgfr3
|
UTSW |
5 |
33,885,216 (GRCm39) |
missense |
probably benign |
|
R9414:Fgfr3
|
UTSW |
5 |
33,887,298 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9689:Fgfr3
|
UTSW |
5 |
33,892,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTCAGCTTCAGGGTTTCG -3'
(R):5'- TACAAAGGAGCGGCTGTTCG -3'
Sequencing Primer
(F):5'- CTTCAGGGTTTCGCATGACAAG -3'
(R):5'- TGGGGCGACAACTTACCGAG -3'
|
Posted On |
2015-08-18 |