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) question?
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

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 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

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: ENSMUST00000114411
AA Change: V71A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: V71A

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 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

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: V71A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: V71A

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 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

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 benign
Transcript: ENSMUST00000181298
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
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

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 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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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