Incidental Mutation 'R4361:Fgfr3'
| ID |
371082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| MMRRC Submission |
041112-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R4361 (G1)
|
| Quality Score |
133 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 33880676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000202138]
[ENSMUST00000171509]
[ENSMUST00000201437]
|
| 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: ENSMUST00000202182
|
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,688 (GRCm39) |
T538A |
probably damaging |
Het |
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Aadac |
T |
A |
3: 59,947,182 (GRCm39) |
S293R |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,481,947 (GRCm39) |
|
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,550 (GRCm39) |
A400T |
probably damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,779 (GRCm39) |
V3A |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,865 (GRCm39) |
M232L |
possibly damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,478,646 (GRCm39) |
D264N |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,473,531 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,462,660 (GRCm39) |
S373I |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,558,290 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
T |
C |
4: 109,237,228 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,362,676 (GRCm39) |
Q235L |
probably damaging |
Het |
| Gabra4 |
C |
T |
5: 71,790,888 (GRCm39) |
|
probably null |
Het |
| Gins1 |
A |
G |
2: 150,767,821 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gm12253 |
T |
A |
11: 58,325,687 (GRCm39) |
S53T |
probably benign |
Het |
| Gne |
C |
A |
4: 44,059,947 (GRCm39) |
A149S |
possibly damaging |
Het |
| Gpc2 |
A |
T |
5: 138,276,552 (GRCm39) |
C191* |
probably null |
Het |
| Has2 |
G |
T |
15: 56,545,344 (GRCm39) |
A86E |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,870,982 (GRCm39) |
S205T |
probably damaging |
Het |
| Irx5 |
G |
T |
8: 93,085,025 (GRCm39) |
A72S |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,768,044 (GRCm39) |
Q51L |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,645,378 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
G |
15: 98,761,551 (GRCm39) |
M600L |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,084,482 (GRCm39) |
S172R |
probably damaging |
Het |
| Lrrc37 |
CTTTT |
CTTTTT |
11: 103,508,327 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
G |
A |
11: 96,925,496 (GRCm39) |
|
probably benign |
Het |
| Mab21l2 |
C |
T |
3: 86,454,497 (GRCm39) |
V168M |
probably damaging |
Het |
| Magea3 |
A |
C |
X: 153,731,850 (GRCm39) |
C218G |
possibly damaging |
Het |
| Magea3 |
C |
A |
X: 153,731,849 (GRCm39) |
C218F |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,563,358 (GRCm39) |
K96E |
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myf6 |
GGGGGCAG |
GG |
10: 107,330,293 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nav1 |
G |
A |
1: 135,535,175 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,688,847 (GRCm39) |
K477E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,794,921 (GRCm39) |
H862L |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,495,037 (GRCm39) |
S1608* |
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,779 (GRCm39) |
I303V |
probably benign |
Het |
| Retreg3 |
T |
A |
11: 100,994,713 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
A |
5: 146,148,089 (GRCm39) |
V310F |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,923,064 (GRCm39) |
A169V |
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,073,729 (GRCm39) |
S264P |
probably benign |
Het |
| Tex26 |
A |
T |
5: 149,384,388 (GRCm39) |
Q102L |
probably benign |
Het |
| Tex38 |
A |
G |
4: 115,637,420 (GRCm39) |
S128P |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,311,626 (GRCm39) |
|
probably benign |
Het |
| Tyr |
G |
T |
7: 87,078,284 (GRCm39) |
H525Q |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,066,737 (GRCm39) |
N417S |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,764 (GRCm39) |
S331T |
probably damaging |
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 |
|
R4506:Fgfr3
|
UTSW |
5 |
33,887,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Fgfr3
|
UTSW |
5 |
33,880,460 (GRCm39) |
intron |
probably benign |
|
|
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'- ACACTTGAATGCCCTCAAACGG -3'
(R):5'- ACGCACATTCAAGTTCCCG -3'
Sequencing Primer
(F):5'- CCCGGAGGCCAAGGATGCGAAA -3'
(R):5'- ACATTGTTCCAGGAGGCTGC -3'
|
| Posted On |
2016-02-16 |
Incidental Mutation