Incidental Mutation 'IGL03266:Fgfr3'
| ID |
415089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fgfr3
|
| Ensembl Gene |
ENSMUSG00000054252 |
| Gene Name |
fibroblast growth factor receptor 3 |
| Synonyms |
sam3, Fgfr-3, HBGFR |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33891709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 595
(A595T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000171509]
[ENSMUST00000202138]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000201295]
[ENSMUST00000155002]
[ENSMUST00000201437]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067150
AA Change: A613T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: A613T
| 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 damaging
Transcript: ENSMUST00000087820
AA Change: A595T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: A595T
| 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 damaging
Transcript: ENSMUST00000114411
AA Change: A615T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: A615T
| 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: ENSMUST00000132724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152661
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171509
AA Change: A615T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: A615T
| 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 damaging
Transcript: ENSMUST00000202138
AA Change: A595T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: A595T
| 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 damaging
Transcript: ENSMUST00000164207
AA Change: A614T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: A614T
| 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 damaging
Transcript: ENSMUST00000169212
AA Change: A613T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: A613T
| 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 |
unknown
Transcript: ENSMUST00000202791
AA Change: A198T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201295
|
| SMART Domains |
Protein: ENSMUSP00000144104
Gene: ENSMUSG00000054252
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
11 |
71 |
1.9e-3 |
SMART |
|
transmembrane domain
|
90 |
112 |
N/A |
INTRINSIC |
|
PDB:2PSQ|B
|
126 |
223 |
2e-30 |
PDB |
|
Blast:IG_like
|
140 |
223 |
2e-51 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155002
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
T |
6: 88,815,916 (GRCm39) |
V185E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 71,003,440 (GRCm39) |
S261A |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,871,805 (GRCm39) |
I159F |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,558 (GRCm39) |
H208Q |
probably benign |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Nae1 |
T |
C |
8: 105,239,828 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation