Incidental Mutation 'R9537:Ffar1'
ID 719741
Institutional Source Beutler Lab
Gene Symbol Ffar1
Ensembl Gene ENSMUSG00000044453
Gene Name free fatty acid receptor 1
Synonyms Gpr40
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30857390-30861564 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30860600 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 291 (T291A)
Ref Sequence ENSEMBL: ENSMUSP00000055564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000052700] [ENSMUST00000094583] [ENSMUST00000185748]
AlphaFold Q76JU9
Predicted Effect probably benign
Transcript: ENSMUST00000019248
SMART Domains Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577

signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052700
AA Change: T291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055564
Gene: ENSMUSG00000044453
AA Change: T291A

Pfam:7tm_1 22 275 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094583
SMART Domains Protein: ENSMUSP00000092163
Gene: ENSMUSG00000019429

low complexity region 12 25 N/A INTRINSIC
Pfam:7tm_1 27 272 2.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185748
SMART Domains Protein: ENSMUSP00000140252
Gene: ENSMUSG00000019429

low complexity region 12 25 N/A INTRINSIC
Pfam:7tm_1 27 272 9.1e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]
PHENOTYPE: There are conflicting reports on the metabolic affects of disrupting this gene. Glucose metabolism lipid levels have been studied. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T C 1: 93,153,162 K341E possibly damaging Het
Adgra3 A G 5: 49,960,865 Y1114H possibly damaging Het
Atp5j A G 16: 84,828,470 Y82H probably damaging Het
Bcl2a1d T G 9: 88,731,473 I83L probably benign Het
Bean1 CT C 8: 104,182,032 probably null Het
Bglap3 T C 3: 88,368,832 D71G probably benign Het
Bnip3l G A 14: 67,008,765 P7L possibly damaging Het
Chmp2b T C 16: 65,551,046 K15E probably benign Het
Chrm3 A T 13: 9,877,426 W525R probably damaging Het
Col7a1 A T 9: 108,955,352 K143* probably null Het
D6Ertd527e G C 6: 87,111,857 S334T unknown Het
Dnaic1 A G 4: 41,629,790 probably null Het
Dnhd1 G A 7: 105,695,533 G2028D probably damaging Het
Esyt3 C T 9: 99,317,239 R773Q probably damaging Het
Gm5767 G T 16: 8,683,313 C11F Het
Golga2 G T 2: 32,288,301 probably benign Het
Hapln2 T A 3: 88,024,473 probably null Het
Ing1 T C 8: 11,561,889 L203P probably benign Het
Med1 T C 11: 98,171,760 T171A possibly damaging Het
Mib2 A T 4: 155,657,495 L387H probably damaging Het
Mier1 A G 4: 103,162,561 N494S probably benign Het
Myof A G 19: 37,907,606 L1847P probably damaging Het
Ndst3 A T 3: 123,671,513 V270D Het
Nup160 T C 2: 90,729,744 L1271S possibly damaging Het
Osgep A T 14: 50,924,662 probably null Het
Ptgfr G T 3: 151,835,808 T21N possibly damaging Het
Ptgs1 T C 2: 36,230,727 S23P unknown Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,914 probably benign Het
Smu1 A G 4: 40,755,671 S65P probably benign Het
Spef2 T C 15: 9,601,799 Y1459C unknown Het
Spen A G 4: 141,471,704 V3204A probably benign Het
Timm44 G A 8: 4,260,576 T392I possibly damaging Het
Tnc A T 4: 63,966,584 I1818N probably damaging Het
Trpm1 G T 7: 64,153,868 probably benign Het
Ttc14 A G 3: 33,803,198 Y231C probably damaging Het
Ube3b A G 5: 114,387,184 R23G probably damaging Het
Usp40 T C 1: 88,007,395 Y10C probably benign Het
Vmn2r107 C A 17: 20,374,887 S567R probably benign Het
Zfp112 T C 7: 24,127,087 Y831H probably damaging Het
Zfy2 T A Y: 2,108,596 T355S Het
Other mutations in Ffar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0410:Ffar1 UTSW 7 30860630 missense probably benign
R4369:Ffar1 UTSW 7 30860608 missense probably benign
R5425:Ffar1 UTSW 7 30860779 missense probably damaging 1.00
R7811:Ffar1 UTSW 7 30861377 missense possibly damaging 0.56
R8048:Ffar1 UTSW 7 30860578 missense probably benign 0.01
R8497:Ffar1 UTSW 7 30860909 missense probably benign
R9368:Ffar1 UTSW 7 30861032 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-07-18