Incidental Mutation 'R9399:Fgfr4'
ID 711013
Institutional Source Beutler Lab
Gene Symbol Fgfr4
Ensembl Gene ENSMUSG00000005320
Gene Name fibroblast growth factor receptor 4
Synonyms Fgfr-4
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 55300631-55316572 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55304293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 111 (T111M)
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: T111M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: T111M

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,384,615 (GRCm39) L450R probably damaging Het
4933427I04Rik T A 4: 123,754,413 (GRCm39) L109* probably null Het
Amotl2 T C 9: 102,606,531 (GRCm39) L576P probably damaging Het
Ankrd11 T C 8: 123,618,179 (GRCm39) N1891S probably benign Het
Arap2 T A 5: 62,763,455 (GRCm39) H1563L possibly damaging Het
Astn2 T C 4: 65,664,588 (GRCm39) T732A possibly damaging Het
Atp2b2 A G 6: 113,780,713 (GRCm39) I312T probably benign Het
Bcl9 C T 3: 97,113,289 (GRCm39) M1055I probably benign Het
Carm1 A G 9: 21,486,791 (GRCm39) N180D possibly damaging Het
Cd180 A T 13: 102,842,021 (GRCm39) T356S probably benign Het
Cdh18 A C 15: 23,173,899 (GRCm39) T38P probably damaging Het
Cdk7 G T 13: 100,840,988 (GRCm39) P308Q probably damaging Het
Chd5 C T 4: 152,468,592 (GRCm39) A1715V probably benign Het
Clptm1 A T 7: 19,367,842 (GRCm39) V590D probably damaging Het
Col18a1 C T 10: 76,916,584 (GRCm39) G364R unknown Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Fndc8 A T 11: 82,788,739 (GRCm39) T190S probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Glra3 T A 8: 56,542,079 (GRCm39) I274N probably damaging Het
Gpsm2 G A 3: 108,590,090 (GRCm39) R499* probably null Het
Gzme T A 14: 56,355,796 (GRCm39) D172V probably damaging Het
Ift88 T A 14: 57,717,385 (GRCm39) D536E probably benign Het
Itih3 T C 14: 30,643,335 (GRCm39) T151A probably benign Het
Kctd7 T C 5: 130,177,033 (GRCm39) Y95H probably damaging Het
Lipe A T 7: 25,097,227 (GRCm39) C239S probably benign Het
Lpcat3 T C 6: 124,640,283 (GRCm39) S38P probably benign Het
Mical2 C T 7: 111,946,082 (GRCm39) R1015C probably damaging Het
Midn C T 10: 79,992,210 (GRCm39) R421* probably null Het
Mmp17 A T 5: 129,671,686 (GRCm39) K79* probably null Het
Or8b39 A G 9: 37,997,020 (GRCm39) H296R probably benign Het
Or8k16 G C 2: 85,520,395 (GRCm39) L207F probably damaging Het
Pla2r1 A G 2: 60,282,744 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,755,010 (GRCm39) V79A probably damaging Het
Prkd3 G T 17: 79,264,719 (GRCm39) P633H probably damaging Het
Prss40 T A 1: 34,591,794 (GRCm39) S294C probably damaging Het
Raph1 T A 1: 60,565,154 (GRCm39) Q111L probably benign Het
Rufy3 A T 5: 88,797,725 (GRCm39) N634I possibly damaging Het
Sel1l3 A C 5: 53,265,486 (GRCm39) V1102G probably benign Het
Sh2b1 AGCTCAGCC AGCTCAGCCCCGGGGACCCGCTCAGCC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 GG GGCACCAGCTCAGCCCCGCG 7: 126,066,762 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGACCAGCTCAGCCACG GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG 7: 126,066,744 (GRCm39) probably benign Het
Slc25a23 C A 17: 57,360,930 (GRCm39) G165C probably damaging Het
Spata31e1 T A 13: 49,940,175 (GRCm39) T512S possibly damaging Het
Sytl2 T A 7: 90,041,658 (GRCm39) D585E probably benign Het
Ttc14 A G 3: 33,858,856 (GRCm39) T372A possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r82 T A 10: 79,214,768 (GRCm39) Y250* probably null Het
Vmn2r92 T A 17: 18,389,137 (GRCm39) S484T probably benign 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
R4932:Fgfr4 UTSW 13 55,315,983 (GRCm39) missense unknown
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
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'- AATCCTGGAGCAGCAAGAGC -3'
(R):5'- AGACATGACCACTCGAGGAG -3'

Sequencing Primer
(F):5'- CAGCAAGAGCAGGTGTTGAC -3'
(R):5'- ACTCGAGGAGCTGCTGAGTG -3'
Posted On 2022-04-18