Incidental Mutation 'R8935:Fgfr3'
ID 680564
Institutional Source Beutler Lab
Gene Symbol Fgfr3
Ensembl Gene ENSMUSG00000054252
Gene Name fibroblast growth factor receptor 3
Synonyms sam3, Fgfr-3, HBGFR
MMRRC Submission 068778-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R8935 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 33879068-33894412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 33892810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 752 (D752A)
Ref Sequence ENSEMBL: ENSMUSP00000143945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005431] [ENSMUST00000067150] [ENSMUST00000087820] [ENSMUST00000114411] [ENSMUST00000164207] [ENSMUST00000169212] [ENSMUST00000171509] [ENSMUST00000201295] [ENSMUST00000202138]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005431
SMART Domains Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
Pfam:LETM1 152 417 1.2e-111 PFAM
coiled coil region 445 493 N/A INTRINSIC
low complexity region 503 513 N/A INTRINSIC
coiled coil region 537 598 N/A INTRINSIC
SCOP:d1c7va_ 647 691 4e-3 SMART
coiled coil region 708 738 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000067150
AA Change: D770A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: D770A

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 damaging
Transcript: ENSMUST00000087820
AA Change: D752A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: D752A

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 damaging
Transcript: ENSMUST00000114411
AA Change: D772A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: D772A

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: ENSMUST00000164207
AA Change: D771A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: D771A

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 damaging
Transcript: ENSMUST00000169212
AA Change: D770A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: D770A

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 damaging
Transcript: ENSMUST00000171509
AA Change: D772A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: D772A

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 damaging
Transcript: ENSMUST00000202138
AA Change: D752A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: D752A

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: ENSMUST00000202791
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik G T 8: 117,698,181 (GRCm39) Q309K probably benign Het
Adam20 T C 8: 41,247,989 (GRCm39) V33A probably benign Het
Ank T C 15: 27,591,112 (GRCm39) V417A probably damaging Het
Arhgef17 C T 7: 100,527,324 (GRCm39) V779I probably benign Het
Atp6v0a1 T A 11: 100,929,519 (GRCm39) F440I possibly damaging Het
Brca2 T G 5: 150,492,446 (GRCm39) S3154A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Cep128 C T 12: 91,233,770 (GRCm39) E433K probably damaging Het
Cep192 C T 18: 67,995,543 (GRCm39) T970I probably damaging Het
Chd2 T C 7: 73,153,210 (GRCm39) T249A possibly damaging Het
Cpd C T 11: 76,731,295 (GRCm39) G304S probably damaging Het
Cpsf7 T A 19: 10,509,345 (GRCm39) Y85* probably null Het
Csf3r T A 4: 125,937,200 (GRCm39) S695T probably benign Het
Cyp20a1 A G 1: 60,410,473 (GRCm39) Q258R probably damaging Het
Ddi2 A T 4: 141,412,600 (GRCm39) L104Q probably damaging Het
Dpp8 T C 9: 64,983,066 (GRCm39) S733P possibly damaging Het
Efhd1 A G 1: 87,217,219 (GRCm39) D112G probably damaging Het
Elapor2 C T 5: 9,491,764 (GRCm39) T708M probably damaging Het
Fmod C A 1: 133,968,586 (GRCm39) H209N probably benign Het
Gde1 C T 7: 118,297,914 (GRCm39) E101K possibly damaging Het
Gldc C T 19: 30,109,093 (GRCm39) R615Q probably benign Het
Gli2 T C 1: 118,764,122 (GRCm39) E1343G probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm4847 A G 1: 166,469,789 (GRCm39) Y95H probably damaging Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gtpbp3 A G 8: 71,945,181 (GRCm39) probably null Het
Haspin A G 11: 73,026,890 (GRCm39) F733S probably damaging Het
Hgh1 C G 15: 76,254,592 (GRCm39) R323G probably damaging Het
Idh1 A T 1: 65,204,378 (GRCm39) I244N probably damaging Het
Idh2 T C 7: 79,764,946 (GRCm39) T27A probably benign Het
Igkv4-69 T C 6: 69,260,912 (GRCm39) T72A possibly damaging Het
Lmntd1 A G 6: 145,489,229 (GRCm39) Y11H probably benign Het
Myt1l T C 12: 29,877,243 (GRCm39) M298T unknown Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nfya A T 17: 48,700,294 (GRCm39) probably benign Het
Nsun2 A G 13: 69,767,586 (GRCm39) D180G probably damaging Het
Or10ag60 A G 2: 87,438,421 (GRCm39) T230A possibly damaging Het
Or4k50-ps1 A T 2: 111,522,244 (GRCm39) Q127L unknown Het
Osbpl6 T C 2: 76,379,800 (GRCm39) V130A possibly damaging Het
Prss44 T A 9: 110,645,527 (GRCm39) I94N probably damaging Het
Rbm6 C T 9: 107,677,945 (GRCm39) V15I probably benign Het
Rdh19 C T 10: 127,685,929 (GRCm39) L14F possibly damaging Het
Rtkn T C 6: 83,115,196 (GRCm39) L14P probably damaging Het
Ryr3 A T 2: 112,508,402 (GRCm39) N3405K probably benign Het
Scp2 T C 4: 107,950,072 (GRCm39) E179G probably damaging Het
Sema3e A T 5: 14,282,127 (GRCm39) K421I probably damaging Het
Sorcs2 C T 5: 36,193,202 (GRCm39) V755M possibly damaging Het
Spef2 T C 15: 9,607,436 (GRCm39) I1328V probably damaging Het
Speg A T 1: 75,399,250 (GRCm39) K2232N probably benign Het
St7l A G 3: 104,778,204 (GRCm39) I114V probably damaging Het
Stkld1 C T 2: 26,833,941 (GRCm39) Q143* probably null Het
Stox2 T C 8: 47,645,895 (GRCm39) T586A possibly damaging Het
Supt20 A G 3: 54,634,988 (GRCm39) probably null Het
Tectb G T 19: 55,183,132 (GRCm39) V338L probably benign Het
Tiam1 T C 16: 89,681,821 (GRCm39) N386D probably damaging Het
Trps1 G A 15: 50,752,344 (GRCm39) Q2* probably null Het
Usp36 C T 11: 118,167,657 (GRCm39) probably null Het
Vmn1r198 C T 13: 22,539,092 (GRCm39) Q104* probably null Het
Vmn1r38 T C 6: 66,753,979 (GRCm39) T46A probably benign Het
Vmn2r110 A G 17: 20,803,957 (GRCm39) V206A probably benign Het
Vmn2r62 T A 7: 42,437,791 (GRCm39) D231V probably benign Het
Zfp143 T C 7: 109,669,736 (GRCm39) L55P 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
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
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'- TAAGTGTCCCTCAGTCCTGC -3'
(R):5'- AAGTCTTGTCTACTGTTGGCC -3'

Sequencing Primer
(F):5'- CTGCCTTGCTTATTTTAAGTGTTGC -3'
(R):5'- TTGGCCCATTGCACTGG -3'
Posted On 2021-08-31