Incidental Mutation 'R1496:Fgfr3'
ID 168852
Institutional Source Beutler Lab
Gene Symbol Fgfr3
Ensembl Gene ENSMUSG00000054252
Gene Name fibroblast growth factor receptor 3
Synonyms sam3, Fgfr-3, HBGFR
MMRRC Submission 039547-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R1496 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 33879068-33894412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33887094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000144379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067150] [ENSMUST00000087820] [ENSMUST00000114411] [ENSMUST00000171509] [ENSMUST00000201437] [ENSMUST00000202138] [ENSMUST00000155002] [ENSMUST00000164207] [ENSMUST00000169212] [ENSMUST00000201295]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067150
AA Change: V166A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000087820
AA Change: V148A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: V148A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114411
AA Change: V166A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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: ENSMUST00000171509
AA Change: V166A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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: ENSMUST00000201437
AA Change: V166A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144379
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000202138
AA Change: V148A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: V148A

DomainStartEndE-ValueType
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: ENSMUST00000155002
AA Change: V14A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000164207
AA Change: V166A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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: V166A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: V166A

DomainStartEndE-ValueType
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: ENSMUST00000181298
AA Change: V4A
Predicted Effect unknown
Transcript: ENSMUST00000202182
AA Change: V154A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152661
Predicted Effect probably benign
Transcript: ENSMUST00000202791
Predicted Effect probably benign
Transcript: ENSMUST00000201295
SMART Domains Protein: ENSMUSP00000144104
Gene: ENSMUSG00000054252

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.5447 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 98% (94/96)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,221,552 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,041,489 (GRCm39) Y207H probably damaging Het
Abcc1 T A 16: 14,266,298 (GRCm39) L832Q probably damaging Het
Acan T A 7: 78,750,552 (GRCm39) H1774Q probably benign Het
Adss2 T C 1: 177,599,760 (GRCm39) T275A probably benign Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Araf G T X: 20,725,943 (GRCm39) R522L probably damaging Het
Arhgef28 C T 13: 98,102,054 (GRCm39) V807I possibly damaging Het
Bin1 T C 18: 32,545,757 (GRCm39) I103T probably damaging Het
C4b C T 17: 34,958,995 (GRCm39) R478Q probably benign Het
Cacna1b G A 2: 24,568,047 (GRCm39) P1015S probably benign Het
Capn1 A G 19: 6,057,528 (GRCm39) probably null Het
Cep290 A G 10: 100,374,828 (GRCm39) Q1358R probably damaging Het
Cfap126 T C 1: 170,953,386 (GRCm39) probably benign Het
Chn1 T C 2: 73,509,951 (GRCm39) probably benign Het
Cldn8 T C 16: 88,359,289 (GRCm39) E212G probably benign Het
Cpb1 T C 3: 20,317,696 (GRCm39) N249S probably damaging Het
Cxcr6 A T 9: 123,639,412 (GRCm39) I138F probably benign Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dcaf8 T C 1: 172,021,422 (GRCm39) M538T probably benign Het
Dhrs4 T G 14: 55,725,107 (GRCm39) L201V probably damaging Het
Dnah12 C T 14: 26,431,403 (GRCm39) A407V probably benign Het
Elavl3 T A 9: 21,937,461 (GRCm39) probably benign Het
Elp4 T C 2: 105,662,506 (GRCm39) H88R probably benign Het
Ercc3 T C 18: 32,394,350 (GRCm39) probably benign Het
Eri1 A G 8: 35,936,335 (GRCm39) S329P possibly damaging Het
Erich2 A T 2: 70,343,117 (GRCm39) probably benign Het
Esyt1 A G 10: 128,348,297 (GRCm39) S864P possibly damaging Het
Fam170b A G 14: 32,557,588 (GRCm39) E141G probably damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbn1 T C 2: 125,151,415 (GRCm39) T2531A probably benign Het
Glt8d2 T C 10: 82,495,372 (GRCm39) D194G probably damaging Het
Gpr89 A G 3: 96,812,526 (GRCm39) I5T probably benign Het
Gpx6 A T 13: 21,503,090 (GRCm39) H168L probably benign Het
Gusb T C 5: 130,027,385 (GRCm39) T307A probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Ifngr1 A G 10: 19,477,193 (GRCm39) D118G probably benign Het
Ipcef1 A T 10: 6,885,173 (GRCm39) probably null Het
Kbtbd3 A T 9: 4,330,276 (GRCm39) T217S probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Lrp1 T C 10: 127,374,880 (GRCm39) D4526G probably damaging Het
Lrp1b A T 2: 42,213,674 (GRCm39) V46D probably damaging Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Map1lc3b C T 8: 122,323,339 (GRCm39) R70C possibly damaging Het
Meiob T A 17: 25,032,026 (GRCm39) S14T possibly damaging Het
Mkx G T 18: 6,992,330 (GRCm39) Y183* probably null Het
Mrs2 T C 13: 25,189,017 (GRCm39) Y99C probably benign Het
Mycbpap T C 11: 94,396,387 (GRCm39) K151R probably benign Het
Neb T G 2: 52,218,746 (GRCm39) Q88P probably damaging Het
Noc4l T A 5: 110,797,944 (GRCm39) H319L probably damaging Het
Nt5c2 G A 19: 46,893,417 (GRCm39) T122I probably damaging Het
Nuggc A T 14: 65,861,582 (GRCm39) N476I probably damaging Het
Obscn T A 11: 58,921,862 (GRCm39) H5978L probably benign Het
Oc90 G T 15: 65,748,370 (GRCm39) A412D probably damaging Het
Or2l13b T A 16: 19,349,133 (GRCm39) D179V possibly damaging Het
Or3a4 A G 11: 73,944,650 (GRCm39) *312Q probably null Het
Or4a76 A G 2: 89,460,358 (GRCm39) S295P possibly damaging Het
Or5w18 T G 2: 87,633,212 (GRCm39) S160A probably benign Het
Or7a42 T A 10: 78,791,682 (GRCm39) S214R probably benign Het
Or8k33 A T 2: 86,384,096 (GRCm39) V124E probably damaging Het
Pdzrn3 A T 6: 101,127,930 (GRCm39) V912E probably benign Het
Phactr1 T A 13: 43,248,466 (GRCm39) Y387N probably damaging Het
Picalm T A 7: 89,779,859 (GRCm39) C27S probably benign Het
Pkd1l1 T A 11: 8,891,077 (GRCm39) I314F possibly damaging Het
Pold2 T C 11: 5,824,175 (GRCm39) E210G possibly damaging Het
Ptprz1 C T 6: 23,049,523 (GRCm39) probably benign Het
Rac1 G T 5: 143,493,093 (GRCm39) A165E probably damaging Het
Rpap3 G T 15: 97,584,364 (GRCm39) T360K possibly damaging Het
Scn9a G A 2: 66,357,232 (GRCm39) T1012I probably benign Het
Sdad1 A G 5: 92,457,682 (GRCm39) I20T possibly damaging Het
Setbp1 T G 18: 78,903,127 (GRCm39) K180T probably damaging Het
Sgpl1 T C 10: 60,938,368 (GRCm39) N475S probably damaging Het
Shroom3 T C 5: 93,090,693 (GRCm39) S1148P possibly damaging Het
Sin3a T A 9: 57,026,442 (GRCm39) H1119Q possibly damaging Het
Slc26a7 T A 4: 14,506,489 (GRCm39) Y620F probably benign Het
Slc4a1 T C 11: 102,251,997 (GRCm39) I36V probably benign Het
Smarca2 C G 19: 26,608,501 (GRCm39) P263A possibly damaging Het
Sp100 T C 1: 85,591,242 (GRCm39) probably benign Het
Spag6l A G 16: 16,598,478 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,071,498 (GRCm39) N1491S probably damaging Het
Tbl1xr1 T G 3: 22,245,115 (GRCm39) V155G possibly damaging Het
Tmc1 A G 19: 20,845,719 (GRCm39) I168T probably damaging Het
Tmem87b G A 2: 128,668,313 (GRCm39) probably null Het
Tnfrsf9 T A 4: 151,017,561 (GRCm39) probably null Het
Tnni3k T C 3: 154,645,295 (GRCm39) D530G probably damaging Het
Vmn1r209 G A 13: 22,989,934 (GRCm39) S252F probably damaging Het
Zbtb3 A T 19: 8,780,714 (GRCm39) N109I probably damaging Het
Zdhhc17 T G 10: 110,782,071 (GRCm39) H541P probably damaging Het
Zfp84 A G 7: 29,476,039 (GRCm39) I244V possibly damaging Het
Zyx A G 6: 42,333,246 (GRCm39) Y393C probably damaging Het
Other mutations in Fgfr3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCCAGGCTCAGGCAAAGCAAAG -3'
(R):5'- TTCCATGACCAAGCTCCACTGCTG -3'

Sequencing Primer
(F):5'- AGCAAAGGACTCTGAATCCAG -3'
(R):5'- CAGGTAGTTAGTCTGTGAGTAGATGC -3'
Posted On 2014-04-13