Incidental Mutation 'R2152:Fgfr4'
ID 234428
Institutional Source Beutler Lab
Gene Symbol Fgfr4
Ensembl Gene ENSMUSG00000005320
Gene Name fibroblast growth factor receptor 4
Synonyms Fgfr-4
MMRRC Submission 040155-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2152 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55152640-55168759 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55166964 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 640 (Y640F)
Ref Sequence ENSEMBL: ENSMUSP00000005452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005452]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000005452
AA Change: Y640F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: Y640F

signal peptide 1 16 N/A INTRINSIC
IGc2 45 105 1.39e-11 SMART
IGc2 160 228 3.1e-18 SMART
IGc2 259 337 1.59e-6 SMART
low complexity region 369 387 N/A INTRINSIC
low complexity region 416 446 N/A INTRINSIC
TyrKc 464 740 1.67e-148 SMART
low complexity region 764 795 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 would consist 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. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfismand defective respiratory alveogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 A T 1: 90,213,843 (GRCm38) Y8F probably benign Het
Acy1 T C 9: 106,435,617 (GRCm38) E175G probably damaging Het
Add2 T C 6: 86,098,598 (GRCm38) L243P probably damaging Het
Adsl A G 15: 80,967,662 (GRCm38) D407G probably damaging Het
Afg3l1 T G 8: 123,494,836 (GRCm38) I478S probably damaging Het
Aoc1l1 T A 6: 48,976,539 (GRCm38) I466N probably damaging Het
Arfrp1 T C 2: 181,359,694 (GRCm38) T108A probably benign Het
Art5 A G 7: 102,098,200 (GRCm38) L124P possibly damaging Het
Asap2 A T 12: 21,112,083 (GRCm38) T14S probably damaging Het
Atp2c2 A G 8: 119,756,102 (GRCm38) N901S probably benign Het
Bbs12 G T 3: 37,321,160 (GRCm38) E586* probably null Het
Bicd2 G T 13: 49,379,576 (GRCm38) C546F probably damaging Het
Bid A T 6: 120,900,254 (GRCm38) L42Q probably damaging Het
Bpifb9a A G 2: 154,260,135 (GRCm38) K51E probably benign Het
Calcr G T 6: 3,687,615 (GRCm38) T424K probably benign Het
Cd46 A G 1: 195,062,413 (GRCm38) I339T probably benign Het
Chek1 C A 9: 36,723,983 (GRCm38) V35F probably damaging Het
Cntn3 A G 6: 102,206,537 (GRCm38) I719T probably damaging Het
Cyb5r1 T C 1: 134,409,625 (GRCm38) I163T possibly damaging Het
Cyp2d26 A T 15: 82,792,706 (GRCm38) probably null Het
Dclk1 A G 3: 55,247,212 (GRCm38) Y21C probably damaging Het
Dgcr2 G A 16: 17,891,487 (GRCm38) probably null Het
Dhx38 T C 8: 109,560,674 (GRCm38) S221G probably benign Het
Dis3l T A 9: 64,307,263 (GRCm38) N981I probably benign Het
Dnah3 C T 7: 119,952,013 (GRCm38) V3028I probably benign Het
Dnah6 T C 6: 73,049,166 (GRCm38) Y3448C probably benign Het
Dok5 G A 2: 170,800,896 (GRCm38) G38D probably damaging Het
Epb41l1 A G 2: 156,514,128 (GRCm38) D528G probably damaging Het
Fat4 A T 3: 38,983,395 (GRCm38) Y3732F probably damaging Het
Fcsk T A 8: 110,889,072 (GRCm38) T542S probably benign Het
Foxo6 T A 4: 120,268,614 (GRCm38) D328V probably benign Het
Foxp1 A G 6: 99,016,541 (GRCm38) L134P probably damaging Het
Frem2 G A 3: 53,517,029 (GRCm38) R2996* probably null Het
Garem2 T C 5: 30,108,299 (GRCm38) S54P probably damaging Het
Gcn1 T A 5: 115,609,829 (GRCm38) I1765N probably benign Het
Gm4787 T A 12: 81,377,219 (GRCm38) I722F probably benign Het
Gpc6 G T 14: 116,926,092 (GRCm38) A53S probably benign Het
Gtpbp8 A G 16: 44,740,027 (GRCm38) probably null Het
H2-Q2 T C 17: 35,345,276 (GRCm38) probably null Het
Hapln2 C A 3: 88,023,613 (GRCm38) R157L probably benign Het
Hemgn C A 4: 46,396,607 (GRCm38) E210* probably null Het
Hpse T A 5: 100,691,403 (GRCm38) K360* probably null Het
Iqcj A T 3: 68,055,310 (GRCm38) E68V probably damaging Het
Kat2a T C 11: 100,712,346 (GRCm38) probably benign Het
Kat6b A T 14: 21,668,667 (GRCm38) H1138L probably benign Het
Kcnab1 A T 3: 65,371,440 (GRCm38) I371F probably damaging Het
Klhl30 C A 1: 91,357,824 (GRCm38) A356D probably benign Het
Klra3 G C 6: 130,333,144 (GRCm38) R138G probably benign Het
Micu1 G T 10: 59,863,288 (GRCm38) M468I probably benign Het
Mrc1 A G 2: 14,327,864 (GRCm38) T1292A probably damaging Het
Myh8 G A 11: 67,294,469 (GRCm38) E849K probably damaging Het
Myom3 G T 4: 135,803,233 (GRCm38) R1152L probably benign Het
Nedd4l T A 18: 65,210,330 (GRCm38) H820Q probably damaging Het
Nlrp4g T A 9: 124,353,339 (GRCm38) noncoding transcript Het
Oga A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Or13p5 C T 4: 118,735,249 (GRCm38) A240V possibly damaging Het
Or1m1 T C 9: 18,755,095 (GRCm38) D180G probably damaging Het
Or2a51 A G 6: 43,202,069 (GRCm38) I142V probably benign Het
Or51a39 G T 7: 102,713,581 (GRCm38) H277Q probably benign Het
Or52j3 A T 7: 103,186,640 (GRCm38) D13V probably benign Het
Or8b49 G T 9: 38,594,411 (GRCm38) L63F probably damaging Het
Or8g54 A T 9: 39,795,647 (GRCm38) I91F probably benign Het
Or9s23 T C 1: 92,573,908 (GRCm38) S246P probably damaging Het
Otop1 T A 5: 38,302,851 (GRCm38) M587K probably damaging Het
Pgm5 T A 19: 24,834,815 (GRCm38) I118F probably damaging Het
Phc2 A G 4: 128,745,066 (GRCm38) *41W probably null Het
Phf8-ps T A 17: 33,066,934 (GRCm38) D298V probably damaging Het
Piezo2 A T 18: 63,114,041 (GRCm38) M532K probably damaging Het
Pjvk A T 2: 76,658,369 (GRCm38) I295F probably benign Het
Popdc2 A G 16: 38,363,120 (GRCm38) N155S possibly damaging Het
Ppp4r3a G T 12: 101,042,567 (GRCm38) N684K probably damaging Het
Prpf4b T A 13: 34,900,419 (GRCm38) M930K probably benign Het
Ptpn12 C A 5: 21,002,468 (GRCm38) Q297H probably damaging Het
Ptprz1 C A 6: 23,030,671 (GRCm38) L1010I probably damaging Het
Rabepk A T 2: 34,784,550 (GRCm38) D232E possibly damaging Het
Rad51ap2 A G 12: 11,457,985 (GRCm38) H636R probably benign Het
Rb1 T C 14: 73,288,725 (GRCm38) T169A probably benign Het
Rcc2 T C 4: 140,717,117 (GRCm38) L373P probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rrbp1 A G 2: 143,954,198 (GRCm38) L1200P possibly damaging Het
Sdk1 A G 5: 141,792,944 (GRCm38) N226D probably damaging Het
Selenbp1 G A 3: 94,944,130 (GRCm38) R398H probably damaging Het
Selenoo A G 15: 89,099,282 (GRCm38) M509V probably benign Het
Sidt2 T C 9: 45,945,340 (GRCm38) D477G probably damaging Het
Slc2a5 T G 4: 150,125,638 (GRCm38) S27A probably damaging Het
Slc30a5 A T 13: 100,803,949 (GRCm38) H619Q probably damaging Het
Slc5a9 A G 4: 111,893,223 (GRCm38) I146T possibly damaging Het
Slc6a1 G T 6: 114,307,770 (GRCm38) G263V probably damaging Het
Slmap A G 14: 26,418,247 (GRCm38) Y771H probably damaging Het
Snx29 A G 16: 11,400,843 (GRCm38) D181G possibly damaging Het
Spata31d1c G A 13: 65,033,965 (GRCm38) probably null Het
Stat5a C A 11: 100,874,090 (GRCm38) T213N probably benign Het
Stt3a A T 9: 36,747,996 (GRCm38) V349D probably damaging Het
Tcf20 A T 15: 82,855,602 (GRCm38) D549E probably damaging Het
Thbs2 T A 17: 14,673,209 (GRCm38) D903V probably damaging Het
Tln2 T C 9: 67,302,560 (GRCm38) T432A probably damaging Het
Tmc1 A T 19: 20,856,675 (GRCm38) N241K probably benign Het
Tmem260 G T 14: 48,477,609 (GRCm38) R240L possibly damaging Het
Tnfaip6 A T 2: 52,043,730 (GRCm38) E32D probably damaging Het
Trpa1 A T 1: 14,899,401 (GRCm38) H381Q probably damaging Het
Tsen2 T C 6: 115,547,975 (GRCm38) I45T possibly damaging Het
Ttc6 G A 12: 57,705,552 (GRCm38) V1415I probably damaging Het
Ttll7 G T 3: 146,930,189 (GRCm38) R426L probably damaging Het
Ttn A C 2: 76,740,138 (GRCm38) S26804A probably damaging Het
Ubqlnl A T 7: 104,148,683 (GRCm38) C536S probably benign Het
Vmn2r73 A G 7: 85,857,728 (GRCm38) V792A probably benign Het
Zfp345 T C 2: 150,472,658 (GRCm38) T320A probably benign Het
Zfp407 T C 18: 84,209,649 (GRCm38) D1945G possibly damaging Het
Other mutations in Fgfr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Fgfr4 APN 13 55,159,170 (GRCm38) missense probably damaging 0.99
IGL02140:Fgfr4 APN 13 55,161,179 (GRCm38) missense probably benign
IGL02817:Fgfr4 APN 13 55,156,668 (GRCm38) critical splice donor site probably null
interference UTSW 13 55,165,964 (GRCm38) missense probably damaging 1.00
Modest UTSW 13 55,166,251 (GRCm38) missense probably damaging 1.00
offense UTSW 13 55,161,515 (GRCm38) missense possibly damaging 0.81
R0153:Fgfr4 UTSW 13 55,161,385 (GRCm38) splice site probably benign
R0727:Fgfr4 UTSW 13 55,156,228 (GRCm38) splice site probably null
R1646:Fgfr4 UTSW 13 55,165,964 (GRCm38) missense probably damaging 1.00
R1749:Fgfr4 UTSW 13 55,167,792 (GRCm38) splice site probably null
R1993:Fgfr4 UTSW 13 55,165,902 (GRCm38) missense probably damaging 1.00
R2037:Fgfr4 UTSW 13 55,167,889 (GRCm38) missense possibly damaging 0.51
R2386:Fgfr4 UTSW 13 55,167,901 (GRCm38) missense probably benign 0.36
R3086:Fgfr4 UTSW 13 55,167,392 (GRCm38) splice site probably benign
R3939:Fgfr4 UTSW 13 55,156,494 (GRCm38) missense probably null 0.96
R4255:Fgfr4 UTSW 13 55,166,251 (GRCm38) missense probably damaging 1.00
R4463:Fgfr4 UTSW 13 55,156,467 (GRCm38) missense probably benign 0.02
R4510:Fgfr4 UTSW 13 55,161,515 (GRCm38) missense possibly damaging 0.81
R4511:Fgfr4 UTSW 13 55,161,515 (GRCm38) missense possibly damaging 0.81
R4852:Fgfr4 UTSW 13 55,161,156 (GRCm38) missense possibly damaging 0.68
R4932:Fgfr4 UTSW 13 55,168,170 (GRCm38) missense unknown
R5133:Fgfr4 UTSW 13 55,160,015 (GRCm38) missense probably damaging 1.00
R5146:Fgfr4 UTSW 13 55,165,912 (GRCm38) missense probably damaging 1.00
R5380:Fgfr4 UTSW 13 55,167,417 (GRCm38) missense probably damaging 1.00
R5431:Fgfr4 UTSW 13 55,156,651 (GRCm38) missense probably benign
R5927:Fgfr4 UTSW 13 55,166,887 (GRCm38) missense probably damaging 1.00
R6318:Fgfr4 UTSW 13 55,166,108 (GRCm38) missense probably damaging 1.00
R6792:Fgfr4 UTSW 13 55,156,898 (GRCm38) missense possibly damaging 0.65
R7018:Fgfr4 UTSW 13 55,166,200 (GRCm38) missense probably damaging 0.98
R7290:Fgfr4 UTSW 13 55,161,449 (GRCm38) missense probably benign 0.00
R7343:Fgfr4 UTSW 13 55,159,155 (GRCm38) missense probably damaging 1.00
R7808:Fgfr4 UTSW 13 55,161,156 (GRCm38) missense possibly damaging 0.68
R7891:Fgfr4 UTSW 13 55,159,151 (GRCm38) missense probably benign 0.22
R9028:Fgfr4 UTSW 13 55,159,154 (GRCm38) missense probably damaging 1.00
R9144:Fgfr4 UTSW 13 55,168,024 (GRCm38) critical splice acceptor site probably null
R9257:Fgfr4 UTSW 13 55,168,161 (GRCm38) missense unknown
R9399:Fgfr4 UTSW 13 55,156,480 (GRCm38) missense probably damaging 1.00
R9457:Fgfr4 UTSW 13 55,161,127 (GRCm38) missense probably benign
R9553:Fgfr4 UTSW 13 55,161,415 (GRCm38) missense probably damaging 0.99
R9620:Fgfr4 UTSW 13 55,161,181 (GRCm38) missense possibly damaging 0.68
Z1177:Fgfr4 UTSW 13 55,165,929 (GRCm38) missense probably damaging 1.00
Z1177:Fgfr4 UTSW 13 55,161,707 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-01