Incidental Mutation 'R6985:Fgfr3'
ID 542895
Institutional Source Beutler Lab
Gene Symbol Fgfr3
Ensembl Gene ENSMUSG00000054252
Gene Name fibroblast growth factor receptor 3
Synonyms sam3, Fgfr-3, HBGFR
MMRRC Submission 045092-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R6985 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 33879068-33894412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 33892785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 744 (E744Q)
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 null
Transcript: ENSMUST00000067150
AA Change: E762Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: E762Q

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 null
Transcript: ENSMUST00000087820
AA Change: E744Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: E744Q

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 null
Transcript: ENSMUST00000114411
AA Change: E764Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: E764Q

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 null
Transcript: ENSMUST00000164207
AA Change: E763Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: E763Q

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 null
Transcript: ENSMUST00000169212
AA Change: E762Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: E762Q

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 null
Transcript: ENSMUST00000171509
AA Change: E764Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: E764Q

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 null
Transcript: ENSMUST00000202138
AA Change: E744Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: E744Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
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
Akirin1 A G 4: 123,630,649 (GRCm39) *192R probably null Het
Ankar A C 1: 72,697,641 (GRCm39) L836R probably damaging Het
Anxa7 G T 14: 20,521,636 (GRCm39) A20E unknown Het
Arhgap1 T A 2: 91,498,543 (GRCm39) Y147N probably damaging Het
Arid2 T C 15: 96,268,029 (GRCm39) V714A probably benign Het
Arrdc3 T C 13: 81,031,776 (GRCm39) L3P probably damaging Het
Bhmt2 T C 13: 93,799,830 (GRCm39) D202G possibly damaging Het
Bub1b A G 2: 118,437,095 (GRCm39) R98G probably damaging Het
Capn10 T C 1: 92,871,146 (GRCm39) Y319H probably damaging Het
Cep95 T C 11: 106,709,529 (GRCm39) F115S probably damaging Het
Chsy3 A T 18: 59,309,560 (GRCm39) probably null Het
Cnot1 T C 8: 96,460,757 (GRCm39) N1755S probably benign Het
Cntn4 A G 6: 106,656,378 (GRCm39) N893S probably benign Het
Ctsh G A 9: 89,936,657 (GRCm39) A19T possibly damaging Het
Cttn C A 7: 144,006,324 (GRCm39) E214* probably null Het
Des A G 1: 75,343,431 (GRCm39) E438G possibly damaging Het
Dnaja4 T C 9: 54,615,679 (GRCm39) V109A probably benign Het
Dock1 A G 7: 134,765,132 (GRCm39) E1708G possibly damaging Het
Dst T C 1: 34,229,934 (GRCm39) I2184T probably benign Het
Enc1 C T 13: 97,381,628 (GRCm39) T46I possibly damaging Het
Etaa1 A G 11: 17,896,108 (GRCm39) S670P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fbn2 A T 18: 58,201,460 (GRCm39) V1319E probably damaging Het
Fcrl1 T A 3: 87,296,957 (GRCm39) V302E probably benign Het
Gmps T A 3: 63,922,960 (GRCm39) I641N probably damaging Het
Gpc2 T A 5: 138,276,670 (GRCm39) Y152F probably damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Herc2 A G 7: 55,782,228 (GRCm39) D1305G probably damaging Het
Ighv1-37 T C 12: 114,860,252 (GRCm39) T14A probably benign Het
Insr T A 8: 3,211,372 (GRCm39) M1156L possibly damaging Het
Kirrel2 C A 7: 30,154,731 (GRCm39) G127C probably damaging Het
Krt10 T C 11: 99,276,456 (GRCm39) N65S possibly damaging Het
Lrig3 A G 10: 125,850,738 (GRCm39) I1101M possibly damaging Het
Lrrc55 T G 2: 85,022,274 (GRCm39) N306H probably benign Het
Map4k3 A G 17: 80,944,161 (GRCm39) S329P probably damaging Het
Mapkap1 T G 2: 34,322,122 (GRCm39) H13Q probably damaging Het
Mki67 A G 7: 135,315,594 (GRCm39) L60S probably damaging Het
Muc4 A T 16: 32,570,817 (GRCm39) M626L probably benign Het
Mycbp2 C T 14: 103,444,117 (GRCm39) V1914I possibly damaging Het
Myo5b T C 18: 74,786,432 (GRCm39) F442L possibly damaging Het
Naa35 T A 13: 59,775,757 (GRCm39) M545K probably benign Het
Nrxn2 T A 19: 6,531,275 (GRCm39) V645E probably damaging Het
Or52z14 A G 7: 103,252,875 (GRCm39) T5A probably benign Het
Or5af2 T C 11: 58,707,939 (GRCm39) F35S probably damaging Het
Otx1 A T 11: 21,946,615 (GRCm39) Y231* probably null Het
Pcdhb19 A G 18: 37,630,211 (GRCm39) E2G probably benign Het
Pik3c2a G A 7: 116,017,223 (GRCm39) T178I probably damaging Het
Plxna4 A G 6: 32,214,643 (GRCm39) S613P probably damaging Het
Pon1 T G 6: 5,168,345 (GRCm39) D354A probably benign Het
Prtg T G 9: 72,758,783 (GRCm39) I379S probably damaging Het
Rbm17 T G 2: 11,595,504 (GRCm39) M234L probably benign Het
Rex1bd T C 8: 70,958,555 (GRCm39) S71G probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Shank1 A G 7: 43,994,337 (GRCm39) I833V unknown Het
Slc35f1 C A 10: 52,898,007 (GRCm39) D139E probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Spata31d1d T A 13: 59,879,429 (GRCm39) I36F probably benign Het
Sstr4 T A 2: 148,238,169 (GRCm39) M260K probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trat1 A G 16: 48,574,634 (GRCm39) Y55H probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Vcan T C 13: 89,828,075 (GRCm39) T3124A probably damaging Het
Wdfy4 A T 14: 32,821,074 (GRCm39) F1385Y possibly damaging Het
Xrcc3 T C 12: 111,778,530 (GRCm39) D7G 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
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'- TAGACCGCATCCTCACTGTG -3'
(R):5'- TCCGCGTAAACATTGCCTGG -3'

Sequencing Primer
(F):5'- TCCTCACTGTGACATCAACCG -3'
(R):5'- GCCTGGGGCTTGGTCTG -3'
Posted On 2018-11-28