Incidental Mutation 'IGL02630:Fgfr2'
ID 301279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfr2
Ensembl Gene ENSMUSG00000030849
Gene Name fibroblast growth factor receptor 2
Synonyms KGFRTr, svs, Bek, Fgfr-2, Fgfr2b, Fgfr-7, Fgfr7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02630
Quality Score
Status
Chromosome 7
Chromosomal Location 129764181-129868538 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 129830525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117073] [ENSMUST00000117089] [ENSMUST00000117357] [ENSMUST00000117691] [ENSMUST00000117754] [ENSMUST00000117858] [ENSMUST00000117872] [ENSMUST00000119260] [ENSMUST00000120141] [ENSMUST00000120187] [ENSMUST00000118296] [ENSMUST00000121080] [ENSMUST00000122448] [ENSMUST00000120715] [ENSMUST00000122054] [ENSMUST00000124096] [ENSMUST00000121064] [ENSMUST00000153166]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000117073
SMART Domains Protein: ENSMUSP00000112672
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 55 123 4.66e-13 SMART
IGc2 154 234 7.41e-7 SMART
transmembrane domain 260 282 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
TyrKc 364 640 4.38e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117089
SMART Domains Protein: ENSMUSP00000112992
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 40 N/A INTRINSIC
IGc2 53 114 6.59e-13 SMART
low complexity region 129 146 N/A INTRINSIC
IGc2 170 238 4.66e-13 SMART
IGc2 269 347 1.9e-4 SMART
transmembrane domain 376 398 N/A INTRINSIC
low complexity region 430 439 N/A INTRINSIC
TyrKc 480 756 4.38e-152 SMART
low complexity region 784 798 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117357
SMART Domains Protein: ENSMUSP00000112580
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 55 123 4.66e-13 SMART
IGc2 154 232 1.9e-4 SMART
transmembrane domain 261 283 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
TyrKc 365 641 4.38e-152 SMART
low complexity region 669 683 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117691
SMART Domains Protein: ENSMUSP00000113180
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 40 N/A INTRINSIC
IGc2 53 114 6.59e-13 SMART
low complexity region 129 146 N/A INTRINSIC
IGc2 170 238 4.66e-13 SMART
IGc2 269 347 1.9e-4 SMART
transmembrane domain 376 398 N/A INTRINSIC
low complexity region 432 441 N/A INTRINSIC
TyrKc 482 758 4.38e-152 SMART
low complexity region 786 800 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117754
SMART Domains Protein: ENSMUSP00000113187
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 56 136 7.41e-7 SMART
transmembrane domain 162 184 N/A INTRINSIC
low complexity region 218 227 N/A INTRINSIC
TyrKc 268 544 4.38e-152 SMART
low complexity region 572 586 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117858
SMART Domains Protein: ENSMUSP00000112623
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 40 N/A INTRINSIC
IGc2 53 114 6.59e-13 SMART
low complexity region 129 146 N/A INTRINSIC
IGc2 170 238 4.66e-13 SMART
IGc2 269 347 1.9e-4 SMART
transmembrane domain 376 398 N/A INTRINSIC
low complexity region 432 441 N/A INTRINSIC
TyrKc 482 758 4.38e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117872
SMART Domains Protein: ENSMUSP00000113994
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
IGc2 74 142 4.66e-13 SMART
IGc2 173 253 7.41e-7 SMART
transmembrane domain 279 301 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
TyrKc 383 659 4.38e-152 SMART
low complexity region 687 701 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119260
SMART Domains Protein: ENSMUSP00000113010
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 40 N/A INTRINSIC
IGc2 53 114 6.59e-13 SMART
low complexity region 129 146 N/A INTRINSIC
IGc2 170 238 4.66e-13 SMART
IGc2 269 349 7.41e-7 SMART
transmembrane domain 375 397 N/A INTRINSIC
low complexity region 429 438 N/A INTRINSIC
TyrKc 479 755 4.38e-152 SMART
low complexity region 783 797 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120141
SMART Domains Protein: ENSMUSP00000113415
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 36 57 N/A INTRINSIC
IGc2 81 149 4.66e-13 SMART
IGc2 180 258 1.9e-4 SMART
transmembrane domain 287 309 N/A INTRINSIC
low complexity region 341 350 N/A INTRINSIC
TyrKc 391 667 4.38e-152 SMART
low complexity region 695 709 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120187
SMART Domains Protein: ENSMUSP00000113248
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
IGc2 74 142 4.66e-13 SMART
IGc2 173 251 1.9e-4 SMART
transmembrane domain 280 302 N/A INTRINSIC
low complexity region 336 345 N/A INTRINSIC
TyrKc 386 662 4.38e-152 SMART
low complexity region 690 704 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118296
SMART Domains Protein: ENSMUSP00000112471
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 36 57 N/A INTRINSIC
IGc2 81 149 4.66e-13 SMART
IGc2 180 258 1.9e-4 SMART
transmembrane domain 287 309 N/A INTRINSIC
low complexity region 343 352 N/A INTRINSIC
TyrKc 393 669 4.38e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121080
SMART Domains Protein: ENSMUSP00000112585
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 55 123 4.66e-13 SMART
IGc2 154 232 1.9e-4 SMART
transmembrane domain 261 283 N/A INTRINSIC
low complexity region 317 326 N/A INTRINSIC
TyrKc 367 643 4.38e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122448
SMART Domains Protein: ENSMUSP00000113993
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 55 123 4.66e-13 SMART
IGc2 154 232 1.9e-4 SMART
transmembrane domain 261 283 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
TyrKc 365 641 4.38e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120715
SMART Domains Protein: ENSMUSP00000113474
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 40 N/A INTRINSIC
IGc2 53 114 6.59e-13 SMART
low complexity region 129 146 N/A INTRINSIC
IGc2 170 238 4.66e-13 SMART
transmembrane domain 263 285 N/A INTRINSIC
low complexity region 319 328 N/A INTRINSIC
TyrKc 369 645 4.38e-152 SMART
low complexity region 673 687 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000122054
SMART Domains Protein: ENSMUSP00000112430
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 50 59 N/A INTRINSIC
IGc2 72 133 6.59e-13 SMART
low complexity region 148 165 N/A INTRINSIC
IGc2 189 257 4.66e-13 SMART
IGc2 288 368 7.41e-7 SMART
transmembrane domain 394 416 N/A INTRINSIC
low complexity region 450 459 N/A INTRINSIC
TyrKc 500 776 4.38e-152 SMART
low complexity region 804 818 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121064
SMART Domains Protein: ENSMUSP00000113452
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 56 134 1.9e-4 SMART
transmembrane domain 163 185 N/A INTRINSIC
low complexity region 219 228 N/A INTRINSIC
TyrKc 269 545 4.38e-152 SMART
low complexity region 573 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127091
SMART Domains Protein: ENSMUSP00000122856
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:I-set 3 56 1.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153166
SMART Domains Protein: ENSMUSP00000120100
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
low complexity region 50 59 N/A INTRINSIC
IGc2 72 133 6.59e-13 SMART
low complexity region 148 165 N/A INTRINSIC
IGc2 189 257 4.66e-13 SMART
SCOP:d1ev2e1 269 311 1e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length 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 particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Fgfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Fgfr2 APN 7 129,769,441 (GRCm39) missense probably benign 0.45
IGL00594:Fgfr2 APN 7 129,830,453 (GRCm39) missense probably damaging 1.00
IGL00963:Fgfr2 APN 7 129,830,491 (GRCm39) missense probably damaging 0.99
IGL01968:Fgfr2 APN 7 129,786,978 (GRCm39) missense probably damaging 1.00
IGL02003:Fgfr2 APN 7 129,820,802 (GRCm39) missense probably damaging 1.00
IGL02063:Fgfr2 APN 7 129,769,485 (GRCm39) missense probably damaging 1.00
IGL02239:Fgfr2 APN 7 129,779,416 (GRCm39) missense probably damaging 1.00
IGL02349:Fgfr2 APN 7 129,844,336 (GRCm39) missense probably damaging 1.00
IGL02639:Fgfr2 APN 7 129,830,532 (GRCm39) splice site probably benign
IGL03058:Fgfr2 APN 7 129,784,422 (GRCm39) missense probably damaging 1.00
IGL03263:Fgfr2 APN 7 129,782,149 (GRCm39) missense probably benign 0.12
IGL03377:Fgfr2 APN 7 129,800,247 (GRCm39) missense probably damaging 0.98
R0048:Fgfr2 UTSW 7 129,782,218 (GRCm39) splice site probably benign
R0048:Fgfr2 UTSW 7 129,782,218 (GRCm39) splice site probably benign
R0078:Fgfr2 UTSW 7 129,802,805 (GRCm39) missense possibly damaging 0.95
R0085:Fgfr2 UTSW 7 129,797,993 (GRCm39) missense probably damaging 0.99
R0278:Fgfr2 UTSW 7 129,863,592 (GRCm39) splice site probably null
R0335:Fgfr2 UTSW 7 129,797,979 (GRCm39) missense probably benign 0.00
R0557:Fgfr2 UTSW 7 129,820,811 (GRCm39) missense probably damaging 1.00
R0631:Fgfr2 UTSW 7 129,828,969 (GRCm39) intron probably benign
R0637:Fgfr2 UTSW 7 129,773,354 (GRCm39) missense possibly damaging 0.89
R0841:Fgfr2 UTSW 7 130,373,737 (GRCm39) unclassified probably benign
R0841:Fgfr2 UTSW 7 129,863,635 (GRCm39) missense probably benign 0.03
R1646:Fgfr2 UTSW 7 129,844,374 (GRCm39) missense probably damaging 1.00
R1670:Fgfr2 UTSW 7 129,782,187 (GRCm39) missense probably damaging 1.00
R1678:Fgfr2 UTSW 7 129,830,350 (GRCm39) splice site probably null
R1950:Fgfr2 UTSW 7 129,800,211 (GRCm39) missense probably damaging 0.96
R2393:Fgfr2 UTSW 7 129,828,968 (GRCm39) splice site probably null
R3706:Fgfr2 UTSW 7 129,800,161 (GRCm39) missense probably benign 0.31
R3717:Fgfr2 UTSW 7 129,784,487 (GRCm39) missense probably damaging 1.00
R3808:Fgfr2 UTSW 7 129,801,578 (GRCm39) missense probably benign 0.01
R3945:Fgfr2 UTSW 7 129,779,485 (GRCm39) missense possibly damaging 0.71
R4438:Fgfr2 UTSW 7 129,774,660 (GRCm39) nonsense probably null
R4718:Fgfr2 UTSW 7 129,863,518 (GRCm39) missense probably damaging 1.00
R4779:Fgfr2 UTSW 7 129,786,923 (GRCm39) intron probably benign
R4925:Fgfr2 UTSW 7 129,787,002 (GRCm39) missense probably damaging 1.00
R4932:Fgfr2 UTSW 7 129,843,007 (GRCm39) missense probably damaging 1.00
R4941:Fgfr2 UTSW 7 129,800,175 (GRCm39) missense probably benign 0.21
R4980:Fgfr2 UTSW 7 129,802,810 (GRCm39) missense probably damaging 1.00
R5304:Fgfr2 UTSW 7 129,769,504 (GRCm39) missense probably damaging 1.00
R5313:Fgfr2 UTSW 7 129,842,970 (GRCm39) missense probably benign 0.01
R5375:Fgfr2 UTSW 7 129,842,945 (GRCm39) missense possibly damaging 0.65
R5652:Fgfr2 UTSW 7 129,863,593 (GRCm39) missense probably damaging 1.00
R6120:Fgfr2 UTSW 7 129,830,420 (GRCm39) missense probably benign 0.24
R6347:Fgfr2 UTSW 7 129,863,487 (GRCm39) missense probably damaging 1.00
R6375:Fgfr2 UTSW 7 129,769,475 (GRCm39) missense probably damaging 1.00
R6475:Fgfr2 UTSW 7 129,802,850 (GRCm39) missense probably benign 0.03
R6481:Fgfr2 UTSW 7 129,787,008 (GRCm39) missense possibly damaging 0.85
R6494:Fgfr2 UTSW 7 129,800,280 (GRCm39) missense probably damaging 1.00
R6542:Fgfr2 UTSW 7 129,802,853 (GRCm39) missense probably benign 0.02
R7246:Fgfr2 UTSW 7 129,844,136 (GRCm39)
R7937:Fgfr2 UTSW 7 129,820,823 (GRCm39) missense probably damaging 1.00
R7976:Fgfr2 UTSW 7 129,787,074 (GRCm39) missense probably damaging 0.99
R8007:Fgfr2 UTSW 7 129,765,719 (GRCm39) nonsense probably null
R8189:Fgfr2 UTSW 7 129,774,629 (GRCm39) missense probably damaging 1.00
R8430:Fgfr2 UTSW 7 129,765,708 (GRCm39) missense probably damaging 1.00
R8486:Fgfr2 UTSW 7 129,765,745 (GRCm39) missense possibly damaging 0.93
R8489:Fgfr2 UTSW 7 129,769,534 (GRCm39) missense probably benign 0.01
R8776:Fgfr2 UTSW 7 129,798,002 (GRCm39) missense possibly damaging 0.64
R8776-TAIL:Fgfr2 UTSW 7 129,798,002 (GRCm39) missense possibly damaging 0.64
R9338:Fgfr2 UTSW 7 129,863,561 (GRCm39) nonsense probably null
R9340:Fgfr2 UTSW 7 129,782,136 (GRCm39) missense probably damaging 1.00
R9497:Fgfr2 UTSW 7 129,765,763 (GRCm39) missense probably damaging 1.00
RF016:Fgfr2 UTSW 7 129,779,410 (GRCm39) missense probably benign 0.03
X0024:Fgfr2 UTSW 7 129,787,059 (GRCm39) missense probably damaging 0.99
Z1088:Fgfr2 UTSW 7 129,771,529 (GRCm39) missense probably damaging 1.00
Z1177:Fgfr2 UTSW 7 129,800,187 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16