Incidental Mutation 'IGL02486:Ffar4'
ID295419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ffar4
Ensembl Gene ENSMUSG00000054200
Gene Namefree fatty acid receptor 4
SynonymsGpr129, O3far1, Pgr4, Gpr120
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL02486
Quality Score
Status
Chromosome19
Chromosomal Location38097079-38114263 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38113760 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 281 (I281T)
Ref Sequence ENSEMBL: ENSMUSP00000063660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000067098] [ENSMUST00000112335]
Predicted Effect probably benign
Transcript: ENSMUST00000025951
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990

DomainStartEndE-ValueType
low complexity region 47 60 N/A INTRINSIC
Pfam:Lipocalin_2 77 229 8.2e-9 PFAM
Pfam:Lipocalin 83 229 8.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067098
AA Change: I281T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063660
Gene: ENSMUSG00000054200
AA Change: I281T

DomainStartEndE-ValueType
Pfam:7tm_1 57 321 1.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112335
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin_2 33 186 3.6e-9 PFAM
Pfam:Lipocalin 39 185 6.5e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for a null allele show altered taste responses to fatty acids. Homozygotes for another null allele develop obesity, liver steatosis, and impaired glucose metabolism, adipogenesis and lipogenesis on a high-fat diet. Homozygotes for a third allele show altered islet somatostatin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 112,515,258 N147K probably benign Het
9330182L06Rik T A 5: 9,422,323 V340E probably benign Het
BC052040 T C 2: 115,777,006 V280A possibly damaging Het
Bcas1 T C 2: 170,406,398 D201G probably damaging Het
Bmp1 T A 14: 70,504,776 D333V possibly damaging Het
Btbd11 C A 10: 85,640,555 P900H probably damaging Het
Capn6 T C X: 143,804,677 E535G probably benign Het
Chac2 T C 11: 30,977,625 D86G probably damaging Het
Col14a1 T A 15: 55,388,696 probably benign Het
Daam1 T C 12: 71,947,145 probably benign Het
Eno4 A G 19: 58,945,665 probably null Het
Fat1 T C 8: 45,025,072 V2385A probably benign Het
Flcn C T 11: 59,801,043 W260* probably null Het
Fry T G 5: 150,491,177 S496A probably damaging Het
Gk T A X: 85,715,668 I373F possibly damaging Het
Gpr108 T C 17: 57,235,977 N528S probably damaging Het
Hey1 T A 3: 8,666,519 R50W probably damaging Het
Hgf A G 5: 16,602,289 Y393C probably damaging Het
Hmcn2 A T 2: 31,420,095 E3260D probably damaging Het
Ift172 A G 5: 31,257,583 I1365T probably damaging Het
Letmd1 A G 15: 100,475,111 R31G probably damaging Het
Mak16 T C 8: 31,160,586 probably benign Het
Mapkapk3 C T 9: 107,289,268 G26D probably damaging Het
Mphosph8 T C 14: 56,688,387 V603A possibly damaging Het
Myom1 G T 17: 71,099,944 probably benign Het
Neb T A 2: 52,282,603 N1564I possibly damaging Het
Nox1 C T X: 134,092,811 G433D probably damaging Het
Olfr133 T A 17: 38,149,221 L211Q probably damaging Het
Olfr554 A T 7: 102,640,420 H58L probably damaging Het
Olfr641 T C 7: 104,040,410 S205P probably damaging Het
Olfr745 T C 14: 50,642,632 F111S probably damaging Het
Rcc2 T C 4: 140,710,362 W135R probably damaging Het
Rgl2 A G 17: 33,935,980 I205V probably damaging Het
Robo4 G A 9: 37,408,374 G640E probably damaging Het
Slc26a5 A G 5: 21,846,325 F64L probably damaging Het
Slc27a2 A G 2: 126,553,350 T66A probably benign Het
St18 T C 1: 6,820,083 S580P probably damaging Het
Syt15 G A 14: 34,222,976 R160K probably damaging Het
Tmem63b A G 17: 45,673,983 S200P probably damaging Het
Tnks T A 8: 34,851,198 N841I probably damaging Het
Tnr G A 1: 159,852,094 probably null Het
Unc13d A G 11: 116,069,806 probably benign Het
Usp4 T C 9: 108,351,029 L74P probably damaging Het
Other mutations in Ffar4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ffar4 APN 19 38107389 missense probably benign
IGL01734:Ffar4 APN 19 38113847 missense probably damaging 1.00
IGL01932:Ffar4 APN 19 38097530 missense probably damaging 1.00
IGL02160:Ffar4 APN 19 38097455 missense possibly damaging 0.91
R0047:Ffar4 UTSW 19 38114004 unclassified probably benign
R0492:Ffar4 UTSW 19 38097182 missense probably benign
R4956:Ffar4 UTSW 19 38097580 missense probably benign 0.01
R5091:Ffar4 UTSW 19 38097179 missense probably benign
R5634:Ffar4 UTSW 19 38113925 unclassified probably benign
R5756:Ffar4 UTSW 19 38113958 missense probably damaging 0.99
R6778:Ffar4 UTSW 19 38113664 missense possibly damaging 0.56
R8030:Ffar4 UTSW 19 38107391 missense possibly damaging 0.80
Posted On2015-04-16