Incidental Mutation 'R8179:Fgfr3'
ID |
634535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgfr3
|
Ensembl Gene |
ENSMUSG00000054252 |
Gene Name |
fibroblast growth factor receptor 3 |
Synonyms |
sam3, Fgfr-3, HBGFR |
MMRRC Submission |
067604-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R8179 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33885099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 71
(V71A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067150]
[ENSMUST00000087820]
[ENSMUST00000114411]
[ENSMUST00000155002]
[ENSMUST00000164207]
[ENSMUST00000169212]
[ENSMUST00000171509]
[ENSMUST00000201295]
[ENSMUST00000201437]
[ENSMUST00000202138]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067150
AA Change: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000070998 Gene: ENSMUSG00000054252 AA Change: V71A
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: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000085122 Gene: ENSMUSG00000054252 AA Change: V71A
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: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110053 Gene: ENSMUSG00000054252 AA Change: V71A
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: ENSMUST00000155002
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164207
AA Change: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133064 Gene: ENSMUSG00000054252 AA Change: V71A
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
AA Change: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130856 Gene: ENSMUSG00000054252 AA Change: V71A
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: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000131845 Gene: ENSMUSG00000054252 AA Change: V71A
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: 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: ENSMUST00000201437
AA Change: V71A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144379 Gene: ENSMUSG00000054252 AA Change: V71A
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: ENSMUST00000202138
AA Change: V71A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143945 Gene: ENSMUSG00000054252 AA Change: V71A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,136,100 (GRCm39) |
Y170H |
probably damaging |
Het |
Ace3 |
G |
T |
11: 105,895,383 (GRCm39) |
V602L |
probably benign |
Het |
Ahr |
T |
C |
12: 35,560,050 (GRCm39) |
Q201R |
probably benign |
Het |
Aldh18a1 |
A |
C |
19: 40,545,952 (GRCm39) |
C612G |
probably damaging |
Het |
Ankrd40 |
G |
A |
11: 94,225,541 (GRCm39) |
A191T |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,137,117 (GRCm39) |
D1169G |
probably damaging |
Het |
Arfgap2 |
T |
C |
2: 91,105,668 (GRCm39) |
F505L |
probably damaging |
Het |
Arhgap40 |
T |
C |
2: 158,381,776 (GRCm39) |
F423L |
probably damaging |
Het |
Atf6b |
T |
C |
17: 34,872,968 (GRCm39) |
M628T |
probably damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,643,939 (GRCm39) |
L1004* |
probably null |
Het |
Cc2d2a |
T |
A |
5: 43,857,295 (GRCm39) |
L494Q |
probably damaging |
Het |
Cd180 |
T |
C |
13: 102,842,141 (GRCm39) |
S396P |
probably benign |
Het |
Cdk19 |
T |
C |
10: 40,270,368 (GRCm39) |
I59T |
possibly damaging |
Het |
Cfap54 |
G |
T |
10: 92,833,178 (GRCm39) |
F1149L |
possibly damaging |
Het |
Chp1 |
C |
T |
2: 119,378,253 (GRCm39) |
|
probably benign |
Het |
Clmp |
T |
C |
9: 40,692,475 (GRCm39) |
F248S |
probably benign |
Het |
Ctc1 |
T |
A |
11: 68,915,050 (GRCm39) |
I237K |
probably benign |
Het |
Dcaf1 |
G |
T |
9: 106,735,115 (GRCm39) |
V688L |
probably damaging |
Het |
Ddx54 |
T |
A |
5: 120,765,167 (GRCm39) |
M812K |
probably benign |
Het |
Disc1 |
C |
T |
8: 125,814,316 (GRCm39) |
P60L |
probably benign |
Het |
Disp2 |
C |
G |
2: 118,623,030 (GRCm39) |
P1254R |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,842,284 (GRCm39) |
I4432F |
possibly damaging |
Het |
Dnajc15 |
A |
T |
14: 78,090,393 (GRCm39) |
I58N |
|
Het |
Elovl5 |
A |
G |
9: 77,884,181 (GRCm39) |
N159S |
probably damaging |
Het |
Frs2 |
A |
T |
10: 116,912,791 (GRCm39) |
H167Q |
probably damaging |
Het |
Gm4553 |
A |
T |
7: 141,718,594 (GRCm39) |
V278E |
unknown |
Het |
Grin2d |
A |
T |
7: 45,507,452 (GRCm39) |
Y416* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,598,265 (GRCm39) |
V1679E |
probably benign |
Het |
Igkv18-36 |
T |
C |
6: 69,969,479 (GRCm39) |
Y105C |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,527,134 (GRCm39) |
D491G |
probably damaging |
Het |
Map3k1 |
A |
C |
13: 111,885,581 (GRCm39) |
I1445M |
probably damaging |
Het |
Med30 |
A |
T |
15: 52,575,964 (GRCm39) |
Q20L |
probably damaging |
Het |
Mgat5b |
A |
G |
11: 116,822,554 (GRCm39) |
E96G |
probably benign |
Het |
Mmp16 |
T |
A |
4: 17,853,854 (GRCm39) |
|
probably null |
Het |
Mogat1 |
A |
G |
1: 78,504,255 (GRCm39) |
D176G |
possibly damaging |
Het |
Mre11a |
T |
A |
9: 14,708,362 (GRCm39) |
D142E |
probably null |
Het |
Mybpc2 |
C |
A |
7: 44,159,254 (GRCm39) |
V599L |
probably benign |
Het |
Myot |
A |
T |
18: 44,487,197 (GRCm39) |
R345* |
probably null |
Het |
Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
Or10z1 |
T |
G |
1: 174,078,130 (GRCm39) |
D121A |
possibly damaging |
Het |
Or8g53 |
C |
T |
9: 39,683,200 (GRCm39) |
V299I |
probably benign |
Het |
Pglyrp2 |
T |
C |
17: 32,635,003 (GRCm39) |
Y453C |
possibly damaging |
Het |
Phrf1 |
A |
G |
7: 140,836,493 (GRCm39) |
Y255C |
unknown |
Het |
Plppr4 |
A |
G |
3: 117,125,327 (GRCm39) |
S171P |
probably damaging |
Het |
Ppip5k1 |
A |
T |
2: 121,172,095 (GRCm39) |
|
probably null |
Het |
Pramel57 |
T |
C |
5: 95,667,753 (GRCm39) |
V111A |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,658,621 (GRCm39) |
H170Q |
probably benign |
Het |
Rnf10 |
ACCTCATCTCGTC |
AC |
5: 115,398,176 (GRCm39) |
|
probably null |
Het |
Rpe65 |
A |
G |
3: 159,330,336 (GRCm39) |
Y501C |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,072,196 (GRCm39) |
I346T |
probably damaging |
Het |
Sema3g |
A |
G |
14: 30,942,542 (GRCm39) |
I48V |
probably benign |
Het |
Slc4a10 |
A |
C |
2: 62,073,792 (GRCm39) |
S285R |
possibly damaging |
Het |
Slc6a11 |
G |
A |
6: 114,222,567 (GRCm39) |
G521S |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,554,903 (GRCm39) |
N912D |
probably benign |
Het |
Traf3ip1 |
T |
C |
1: 91,428,523 (GRCm39) |
V128A |
unknown |
Het |
Trpc7 |
T |
A |
13: 57,035,693 (GRCm39) |
N80I |
probably damaging |
Het |
Ttc21b |
G |
A |
2: 66,031,824 (GRCm39) |
H1031Y |
probably benign |
Het |
Tubg2 |
A |
T |
11: 101,051,082 (GRCm39) |
I235F |
probably benign |
Het |
Ube2q2l |
A |
G |
6: 136,378,240 (GRCm39) |
S197P |
probably damaging |
Het |
Vmn2r118 |
A |
T |
17: 55,915,484 (GRCm39) |
Y489N |
probably benign |
Het |
Vmn2r54 |
G |
T |
7: 12,366,018 (GRCm39) |
C305* |
probably null |
Het |
Vmn2r86 |
G |
A |
10: 130,288,953 (GRCm39) |
H183Y |
probably benign |
Het |
Xrcc5 |
T |
C |
1: 72,396,016 (GRCm39) |
V603A |
probably damaging |
Het |
Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
Zfp112 |
C |
T |
7: 23,825,063 (GRCm39) |
P348S |
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 |
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 |
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'- AAAGTGAAGTGCTGGGTCTCC -3'
(R):5'- AGTGTCCTGATCTCCTTGGC -3'
Sequencing Primer
(F):5'- CAGCATGCTTCTCTGGAGAC -3'
(R):5'- AGCTGTTTCACACACGTTGCAG -3'
|
Posted On |
2020-07-13 |