Incidental Mutation 'IGL01585:Fgfr3'
ID |
93340 |
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 # |
IGL01585
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33891305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 523
(Q523L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000202138]
[ENSMUST00000171509]
[ENSMUST00000155002]
[ENSMUST00000201295]
[ENSMUST00000201437]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067150
AA Change: Q541L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070998 Gene: ENSMUSG00000054252 AA Change: Q541L
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: Q523L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000085122 Gene: ENSMUSG00000054252 AA Change: Q523L
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: Q543L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110053 Gene: ENSMUSG00000054252 AA Change: Q543L
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 |
possibly damaging
Transcript: ENSMUST00000164207
AA Change: Q542L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133064 Gene: ENSMUSG00000054252 AA Change: Q542L
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: Q541L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130856 Gene: ENSMUSG00000054252 AA Change: Q541L
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: ENSMUST00000202138
AA Change: Q523L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143945 Gene: ENSMUSG00000054252 AA Change: Q523L
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
AA Change: Q543L
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131845 Gene: ENSMUSG00000054252 AA Change: Q543L
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 |
unknown
Transcript: ENSMUST00000202791
AA Change: Q126L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155002
|
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: 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: ENSMUST00000202182
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181298
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
Clrn2 |
A |
G |
5: 45,617,500 (GRCm39) |
I124V |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
Dbf4 |
A |
G |
5: 8,458,492 (GRCm39) |
|
probably null |
Het |
Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
Prrt4 |
A |
G |
6: 29,177,689 (GRCm39) |
S27P |
probably benign |
Het |
Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,462,336 (GRCm39) |
D397G |
probably damaging |
Het |
Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
Sgms1 |
T |
G |
19: 32,120,245 (GRCm39) |
R220S |
probably damaging |
Het |
Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
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 |
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 |
2013-12-09 |