Incidental Mutation 'R4932:Fgfr4'
ID 380670
Institutional Source Beutler Lab
Gene Symbol Fgfr4
Ensembl Gene ENSMUSG00000005320
Gene Name fibroblast growth factor receptor 4
Synonyms Fgfr-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4932 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55300631-55316572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55315983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 799 (T799A)
Ref Sequence ENSEMBL: ENSMUSP00000005452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005452]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000005452
AA Change: T799A
SMART Domains Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: T799A

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,270,342 (GRCm39) V616E possibly damaging Het
Adam21 A G 12: 81,605,692 (GRCm39) V690A probably benign Het
Afg3l1 A T 8: 124,228,119 (GRCm39) T635S probably damaging Het
Ahcyl2 T A 6: 29,890,700 (GRCm39) M390K probably benign Het
Ank3 T A 10: 69,734,053 (GRCm39) probably null Het
Antkmt T G 17: 26,010,652 (GRCm39) probably null Het
Arhgef3 A T 14: 27,106,170 (GRCm39) K151N probably damaging Het
Ccr3 T G 9: 123,829,043 (GRCm39) F126C probably damaging Het
Ccser1 A G 6: 61,695,175 (GRCm39) D170G possibly damaging Het
Celsr2 T A 3: 108,310,074 (GRCm39) D1552V probably damaging Het
Cfap69 G A 5: 5,675,820 (GRCm39) L265F probably damaging Het
Chrna9 C T 5: 66,126,533 (GRCm39) R92* probably null Het
Cog3 A T 14: 75,970,394 (GRCm39) V341D probably damaging Het
Csmd1 C A 8: 16,073,779 (GRCm39) R2072L probably damaging Het
Dbf4 G T 5: 8,448,039 (GRCm39) H390Q probably benign Het
Dcaf4 T A 12: 83,579,078 (GRCm39) C166S possibly damaging Het
Dclk3 T A 9: 111,297,110 (GRCm39) L218Q possibly damaging Het
Dip2b T A 15: 100,069,603 (GRCm39) W643R probably damaging Het
Dip2c A G 13: 9,674,008 (GRCm39) K1091E probably damaging Het
Dis3 T A 14: 99,326,340 (GRCm39) H415L probably damaging Het
Dnah7a T A 1: 53,542,737 (GRCm39) I2478F possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Doc2a T C 7: 126,447,752 (GRCm39) probably benign Het
Dph5 A T 3: 115,693,456 (GRCm39) M125L probably benign Het
Dst A T 1: 34,267,764 (GRCm39) T5247S possibly damaging Het
Eno4 T G 19: 58,952,889 (GRCm39) V477G possibly damaging Het
Exosc8 T C 3: 54,636,711 (GRCm39) I207V possibly damaging Het
Fat4 T A 3: 39,061,352 (GRCm39) S4312T probably benign Het
Fgfr2 T C 7: 129,843,007 (GRCm39) D126G probably damaging Het
Gcn1 A T 5: 115,730,203 (GRCm39) D839V probably benign Het
Gprin3 A G 6: 59,331,158 (GRCm39) V383A probably benign Het
Gpt T C 15: 76,583,040 (GRCm39) V361A probably benign Het
Hepacam G A 9: 37,293,060 (GRCm39) C217Y probably damaging Het
Hsp90aa1 A T 12: 110,660,151 (GRCm39) Y382N probably damaging Het
Htr2a T A 14: 74,879,462 (GRCm39) N30K probably benign Het
Jhy A T 9: 40,872,299 (GRCm39) M70K possibly damaging Het
Lrrc19 T C 4: 94,529,174 (GRCm39) Y36C probably damaging Het
Madcam1 C T 10: 79,501,447 (GRCm39) Q171* probably null Het
Mcm8 G A 2: 132,680,629 (GRCm39) M544I probably benign Het
Mdga1 C T 17: 30,076,580 (GRCm39) G64E probably damaging Het
Mmp3 A G 9: 7,446,994 (GRCm39) D58G probably benign Het
Ms4a10 T C 19: 10,942,132 (GRCm39) Y123C probably damaging Het
Ms4a4d T A 19: 11,535,296 (GRCm39) I198K probably benign Het
Mthfd1l A T 10: 3,930,241 (GRCm39) D112V probably benign Het
N4bp2l2 A C 5: 150,566,606 (GRCm39) S567R probably benign Het
Ndufaf2 A G 13: 108,295,010 (GRCm39) Y32H probably damaging Het
Nup153 T A 13: 46,866,213 (GRCm39) K182* probably null Het
Or4c100 A G 2: 88,356,079 (GRCm39) T51A probably benign Het
Or52p2 A G 7: 102,237,623 (GRCm39) F109S probably damaging Het
Or5p4 T A 7: 107,680,781 (GRCm39) V260E probably damaging Het
Otoa T C 7: 120,754,358 (GRCm39) S928P probably damaging Het
Oxct2a T C 4: 123,216,496 (GRCm39) D295G probably benign Het
P4ha2 C A 11: 54,015,846 (GRCm39) T411K probably benign Het
Plcg2 A T 8: 118,333,822 (GRCm39) Q865L probably benign Het
Prepl G T 17: 85,385,932 (GRCm39) T244K possibly damaging Het
Ptpro A T 6: 137,388,103 (GRCm39) K776* probably null Het
Rc3h2 T C 2: 37,279,844 (GRCm39) K462E possibly damaging Het
Scn10a A G 9: 119,516,940 (GRCm39) probably null Het
Serpinb1c A G 13: 33,066,147 (GRCm39) V266A probably damaging Het
Slc6a20b T A 9: 123,433,861 (GRCm39) N326Y probably damaging Het
Spcs2 C T 7: 99,508,038 (GRCm39) G16D possibly damaging Het
Spns3 T C 11: 72,390,321 (GRCm39) D441G possibly damaging Het
Srsf4 A G 4: 131,618,556 (GRCm39) D49G probably damaging Het
Tec A T 5: 72,917,736 (GRCm39) C494* probably null Het
Tecpr1 A T 5: 144,141,476 (GRCm39) Y798N probably damaging Het
Tex56 A T 13: 35,116,613 (GRCm39) T121S possibly damaging Het
Tmt1a T A 15: 100,202,987 (GRCm39) F87Y probably benign Het
Trim56 C T 5: 137,143,343 (GRCm39) E58K probably damaging Het
Ttn A T 2: 76,626,478 (GRCm39) D13146E probably damaging Het
Ube2q1 A T 3: 89,686,790 (GRCm39) K46* probably null Het
Ucn G T 5: 31,295,842 (GRCm39) T8K probably benign Het
Usp25 T C 16: 76,830,870 (GRCm39) probably null Het
Usp48 A T 4: 137,343,144 (GRCm39) Q430L probably benign Het
Usp48 A T 4: 137,343,145 (GRCm39) probably null Het
Vill A T 9: 118,890,579 (GRCm39) D164V probably damaging Het
Vmn2r91 T A 17: 18,356,751 (GRCm39) M806K possibly damaging Het
Wdfy4 T A 14: 32,750,970 (GRCm39) Y2256F probably damaging Het
Wsb1 A G 11: 79,141,826 (GRCm39) S64P probably damaging Het
Zc3h11a C A 1: 133,552,350 (GRCm39) V586F probably benign Het
Zc3h12d A G 10: 7,729,014 (GRCm39) D126G probably damaging Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp442 T A 2: 150,251,635 (GRCm39) H89L possibly damaging Het
Zfp82 T A 7: 29,756,312 (GRCm39) probably null Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging Het
Other mutations in Fgfr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Fgfr4 APN 13 55,306,983 (GRCm39) missense probably damaging 0.99
IGL02140:Fgfr4 APN 13 55,308,992 (GRCm39) missense probably benign
IGL02817:Fgfr4 APN 13 55,304,481 (GRCm39) critical splice donor site probably null
interference UTSW 13 55,313,777 (GRCm39) missense probably damaging 1.00
Modest UTSW 13 55,314,064 (GRCm39) missense probably damaging 1.00
offense UTSW 13 55,309,328 (GRCm39) missense possibly damaging 0.81
R0153:Fgfr4 UTSW 13 55,309,198 (GRCm39) splice site probably benign
R0727:Fgfr4 UTSW 13 55,304,041 (GRCm39) splice site probably null
R1646:Fgfr4 UTSW 13 55,313,777 (GRCm39) missense probably damaging 1.00
R1749:Fgfr4 UTSW 13 55,315,605 (GRCm39) splice site probably null
R1993:Fgfr4 UTSW 13 55,313,715 (GRCm39) missense probably damaging 1.00
R2037:Fgfr4 UTSW 13 55,315,702 (GRCm39) missense possibly damaging 0.51
R2152:Fgfr4 UTSW 13 55,314,777 (GRCm39) missense probably damaging 1.00
R2386:Fgfr4 UTSW 13 55,315,714 (GRCm39) missense probably benign 0.36
R3086:Fgfr4 UTSW 13 55,315,205 (GRCm39) splice site probably benign
R3939:Fgfr4 UTSW 13 55,304,307 (GRCm39) missense probably null 0.96
R4255:Fgfr4 UTSW 13 55,314,064 (GRCm39) missense probably damaging 1.00
R4463:Fgfr4 UTSW 13 55,304,280 (GRCm39) missense probably benign 0.02
R4510:Fgfr4 UTSW 13 55,309,328 (GRCm39) missense possibly damaging 0.81
R4511:Fgfr4 UTSW 13 55,309,328 (GRCm39) missense possibly damaging 0.81
R4852:Fgfr4 UTSW 13 55,308,969 (GRCm39) missense possibly damaging 0.68
R5133:Fgfr4 UTSW 13 55,307,828 (GRCm39) missense probably damaging 1.00
R5146:Fgfr4 UTSW 13 55,313,725 (GRCm39) missense probably damaging 1.00
R5380:Fgfr4 UTSW 13 55,315,230 (GRCm39) missense probably damaging 1.00
R5431:Fgfr4 UTSW 13 55,304,464 (GRCm39) missense probably benign
R5927:Fgfr4 UTSW 13 55,314,700 (GRCm39) missense probably damaging 1.00
R6318:Fgfr4 UTSW 13 55,313,921 (GRCm39) missense probably damaging 1.00
R6792:Fgfr4 UTSW 13 55,304,711 (GRCm39) missense possibly damaging 0.65
R7018:Fgfr4 UTSW 13 55,314,013 (GRCm39) missense probably damaging 0.98
R7290:Fgfr4 UTSW 13 55,309,262 (GRCm39) missense probably benign 0.00
R7343:Fgfr4 UTSW 13 55,306,968 (GRCm39) missense probably damaging 1.00
R7808:Fgfr4 UTSW 13 55,308,969 (GRCm39) missense possibly damaging 0.68
R7891:Fgfr4 UTSW 13 55,306,964 (GRCm39) missense probably benign 0.22
R9028:Fgfr4 UTSW 13 55,306,967 (GRCm39) missense probably damaging 1.00
R9144:Fgfr4 UTSW 13 55,315,837 (GRCm39) critical splice acceptor site probably null
R9257:Fgfr4 UTSW 13 55,315,974 (GRCm39) missense unknown
R9399:Fgfr4 UTSW 13 55,304,293 (GRCm39) missense probably damaging 1.00
R9457:Fgfr4 UTSW 13 55,308,940 (GRCm39) missense probably benign
R9553:Fgfr4 UTSW 13 55,309,228 (GRCm39) missense probably damaging 0.99
R9620:Fgfr4 UTSW 13 55,308,994 (GRCm39) missense possibly damaging 0.68
Z1177:Fgfr4 UTSW 13 55,313,742 (GRCm39) missense probably damaging 1.00
Z1177:Fgfr4 UTSW 13 55,309,520 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACACGAAGCATCCTGTCC -3'
(R):5'- GCCTCAACTATGAACCTTAGGAC -3'

Sequencing Primer
(F):5'- GAAGCATCCTGTCCCCAAGG -3'
(R):5'- ACTATGAACCTTAGGACCAAGAATG -3'
Posted On 2016-04-15