Incidental Mutation 'IGL00705:Fgfr3'
| ID |
10776 |
| 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: 0.356)
|
| Stock # |
IGL00705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33892484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 720
(I720V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005431]
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000202138]
[ENSMUST00000201295]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005431
|
| SMART Domains |
Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
|
Pfam:LETM1
|
152 |
417 |
1.2e-111 |
PFAM |
|
coiled coil region
|
445 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
513 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
598 |
N/A |
INTRINSIC |
|
SCOP:d1c7va_
|
647 |
691 |
4e-3 |
SMART |
|
coiled coil region
|
708 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067150
AA Change: I720V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: I720V
| 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
AA Change: I702V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: I702V
| 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
AA Change: I722V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: I722V
| 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 |
possibly damaging
Transcript: ENSMUST00000164207
AA Change: I721V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: I721V
| 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 |
possibly damaging
Transcript: ENSMUST00000169212
AA Change: I720V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: I720V
| 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: ENSMUST00000171509
AA Change: I722V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: I722V
| 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: ENSMUST00000202138
AA Change: I702V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: I702V
| 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 |
noncoding transcript
Transcript: ENSMUST00000152661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181298
|
| 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: ENSMUST00000202791
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,359,588 (GRCm39) |
H257Q |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,835,366 (GRCm39) |
H725Q |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,610 (GRCm39) |
C6S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,986,534 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,362,859 (GRCm39) |
T193K |
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,167,844 (GRCm39) |
I456N |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,150,496 (GRCm39) |
R169* |
probably null |
Het |
| Mroh9 |
A |
G |
1: 162,907,072 (GRCm39) |
S17P |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,379,670 (GRCm39) |
N87H |
probably damaging |
Het |
| Nudt17 |
A |
G |
3: 96,614,516 (GRCm39) |
|
probably null |
Het |
| Obox6 |
A |
T |
7: 15,567,662 (GRCm39) |
S262T |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,769,209 (GRCm39) |
I226V |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,071,620 (GRCm39) |
P2389Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,763,376 (GRCm39) |
V1266D |
probably benign |
Het |
| Usp17ld |
G |
A |
7: 102,899,645 (GRCm39) |
T429I |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,086 (GRCm39) |
H578R |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,723,398 (GRCm39) |
S1800R |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,954,112 (GRCm39) |
T1406A |
probably damaging |
Het |
|
| Other mutations in Fgfr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation