Incidental Mutation 'R8129:Fgfr3'
ID |
631898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgfr3
|
Ensembl Gene |
ENSMUSG00000054252 |
Gene Name |
fibroblast growth factor receptor 3 |
Synonyms |
sam3, Fgfr-3, HBGFR |
MMRRC Submission |
067558-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
R8129 (G1)
|
Quality Score |
168.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
33879068-33894412 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33891250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 523
(M523L)
|
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 damaging
Transcript: ENSMUST00000067150
AA Change: M523L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070998 Gene: ENSMUSG00000054252 AA Change: M523L
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: M505L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085122 Gene: ENSMUSG00000054252 AA Change: M505L
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: M525L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110053 Gene: ENSMUSG00000054252 AA Change: M525L
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 damaging
Transcript: ENSMUST00000164207
AA Change: M524L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133064 Gene: ENSMUSG00000054252 AA Change: M524L
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: M523L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130856 Gene: ENSMUSG00000054252 AA Change: M523L
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: ENSMUST00000171509
AA Change: M525L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131845 Gene: ENSMUSG00000054252 AA Change: M525L
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
|
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 damaging
Transcript: ENSMUST00000202138
AA Change: M505L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143945 Gene: ENSMUSG00000054252 AA Change: M505L
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: ENSMUST00000202182
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202791
AA Change: M108L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 85.2%
|
Validation Efficiency |
98% (99/101) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
C |
2: 35,266,187 (GRCm39) |
D161G |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,140,559 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
T |
19: 8,977,464 (GRCm39) |
M1L |
not run |
Het |
Appl1 |
A |
G |
14: 26,671,466 (GRCm39) |
S329P |
possibly damaging |
Het |
Bach1 |
C |
T |
16: 87,519,314 (GRCm39) |
R535W |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,915,033 (GRCm39) |
D77G |
probably benign |
Het |
Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
Cdhr2 |
G |
T |
13: 54,864,208 (GRCm39) |
|
probably null |
Het |
Col25a1 |
T |
C |
3: 130,290,050 (GRCm39) |
S247P |
probably damaging |
Het |
Commd8 |
T |
C |
5: 72,320,164 (GRCm39) |
M126V |
unknown |
Het |
Dpysl4 |
C |
T |
7: 138,666,076 (GRCm39) |
T13M |
probably benign |
Het |
Epc1 |
A |
G |
18: 6,439,634 (GRCm39) |
V776A |
possibly damaging |
Het |
Fancg |
G |
T |
4: 43,005,036 (GRCm39) |
|
probably null |
Het |
Fdx1 |
T |
C |
9: 51,859,926 (GRCm39) |
T135A |
probably benign |
Het |
Fgf7 |
T |
C |
2: 125,877,765 (GRCm39) |
V44A |
probably benign |
Het |
Focad |
A |
T |
4: 88,151,000 (GRCm39) |
H548L |
unknown |
Het |
Ftsj3 |
C |
A |
11: 106,144,657 (GRCm39) |
V111F |
probably benign |
Het |
Gm28168 |
T |
A |
1: 117,857,483 (GRCm39) |
D12E |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,844 (GRCm39) |
T488A |
probably benign |
Het |
Hormad2 |
C |
A |
11: 4,296,648 (GRCm39) |
V279L |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,108,105 (GRCm39) |
K123E |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,754,320 (GRCm39) |
S589P |
probably benign |
Het |
Il1r1 |
T |
A |
1: 40,341,447 (GRCm39) |
H286Q |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,490,987 (GRCm39) |
C423S |
probably damaging |
Het |
L1td1 |
A |
T |
4: 98,621,563 (GRCm39) |
M42L |
probably benign |
Het |
Large1 |
T |
C |
8: 73,542,585 (GRCm39) |
D713G |
probably damaging |
Het |
Llgl2 |
C |
A |
11: 115,741,737 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,260,624 (GRCm39) |
V4536M |
possibly damaging |
Het |
Map3k19 |
A |
C |
1: 127,750,420 (GRCm39) |
L977R |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,399,026 (GRCm39) |
D1617V |
|
Het |
Nek3 |
A |
G |
8: 22,639,908 (GRCm39) |
I189T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,355,068 (GRCm39) |
|
probably null |
Het |
Omd |
A |
C |
13: 49,745,565 (GRCm39) |
D325A |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,939,210 (GRCm39) |
R92K |
probably benign |
Het |
Or4a76 |
C |
A |
2: 89,460,792 (GRCm39) |
G150V |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,584 (GRCm39) |
Y52C |
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,508 (GRCm39) |
Y16F |
probably damaging |
Het |
Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,094,832 (GRCm39) |
D447G |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,262,944 (GRCm39) |
W1032R |
probably damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,995,263 (GRCm39) |
Y524C |
probably benign |
Het |
Ppp4r3b |
T |
C |
11: 29,159,364 (GRCm39) |
Y573H |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,096,200 (GRCm39) |
I568T |
probably benign |
Het |
Ptpn22 |
G |
A |
3: 103,797,600 (GRCm39) |
|
probably null |
Het |
Rbm12b1 |
A |
G |
4: 12,145,549 (GRCm39) |
D507G |
probably damaging |
Het |
Rdh7 |
A |
G |
10: 127,723,370 (GRCm39) |
S162P |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,775 (GRCm39) |
A378V |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,317,350 (GRCm39) |
F738S |
probably damaging |
Het |
Sdk1 |
C |
A |
5: 142,177,648 (GRCm39) |
N2031K |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,118,056 (GRCm39) |
L94Q |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,381,834 (GRCm39) |
S333G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,822,658 (GRCm39) |
V88A |
possibly damaging |
Het |
Smarcad1 |
G |
T |
6: 65,044,078 (GRCm39) |
D217Y |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,765,390 (GRCm39) |
F244S |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,443,959 (GRCm39) |
D2156N |
possibly damaging |
Het |
Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
Tap2 |
C |
T |
17: 34,424,672 (GRCm39) |
T135I |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,161,254 (GRCm39) |
V20F |
probably damaging |
Het |
Tes |
A |
T |
6: 17,065,242 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
Trim44 |
A |
G |
2: 102,230,848 (GRCm39) |
V61A |
unknown |
Het |
Ttll5 |
T |
C |
12: 85,937,858 (GRCm39) |
|
probably null |
Het |
Tubgcp4 |
C |
T |
2: 121,004,109 (GRCm39) |
T50I |
possibly damaging |
Het |
Txndc17 |
G |
A |
11: 72,098,588 (GRCm39) |
V47M |
probably damaging |
Het |
Ubp1 |
A |
G |
9: 113,804,417 (GRCm39) |
E494G |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,628,487 (GRCm39) |
S936T |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,603,154 (GRCm39) |
D585G |
probably damaging |
Het |
Wdtc1 |
A |
T |
4: 133,031,460 (GRCm39) |
|
probably null |
Het |
Zfp292 |
A |
G |
4: 34,807,386 (GRCm39) |
M1891T |
probably damaging |
Het |
Zfp84 |
A |
C |
7: 29,475,862 (GRCm39) |
I185L |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,808,956 (GRCm39) |
F364L |
possibly 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 |
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 |
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'- ACAAGGACCGTACTGCCAAG -3'
(R):5'- TCAAAGGAGTAGTCCATGCCTG -3'
Sequencing Primer
(F):5'- GTACTGCCAAGCCTGTCAC -3'
(R):5'- AAGGAACTCCCGGAGATTGCC -3'
|
Posted On |
2020-06-30 |