Incidental Mutation 'R9371:Ffar2'
ID 709314
Institutional Source Beutler Lab
Gene Symbol Ffar2
Ensembl Gene ENSMUSG00000051314
Gene Name free fatty acid receptor 2
Synonyms Gpr43
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9371 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30517778-30523200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30518929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 204 (W204R)
Ref Sequence ENSEMBL: ENSMUSP00000052600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053156] [ENSMUST00000163504] [ENSMUST00000168528] [ENSMUST00000186059] [ENSMUST00000186339] [ENSMUST00000186534]
AlphaFold Q8VCK6
Predicted Effect probably benign
Transcript: ENSMUST00000053156
AA Change: W204R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: W204R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.1e-8 PFAM
Pfam:7tm_1 24 273 1.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163504
AA Change: W204R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: W204R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.2e-8 PFAM
Pfam:7tm_1 24 277 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168528
AA Change: W204R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: W204R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.1e-8 PFAM
Pfam:7tm_1 24 273 1.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186059
SMART Domains Protein: ENSMUSP00000140484
Gene: ENSMUSG00000051314

DomainStartEndE-ValueType
Pfam:7tm_1 24 133 1.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186339
SMART Domains Protein: ENSMUSP00000140493
Gene: ENSMUSG00000051314

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 8 175 1.9e-4 PFAM
Pfam:7tm_1 24 179 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186534
SMART Domains Protein: ENSMUSP00000140215
Gene: ENSMUSG00000051314

DomainStartEndE-ValueType
Pfam:7tm_1 24 142 1.5e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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 short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a null allele show altered granulocyte and neutrophil physiology and increased inflammation in models of induced colitis, arthritis and asthma, whereas homozygotes for a different null allele show reduced neutrophil recruitment and decreased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,943,663 (GRCm39) I109T probably damaging Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Abca8b T G 11: 109,858,498 (GRCm39) Q568P probably damaging Het
Add3 A G 19: 53,221,499 (GRCm39) T204A probably damaging Het
Afg3l2 C A 18: 67,567,262 (GRCm39) R196L possibly damaging Het
Agps T A 2: 75,742,024 (GRCm39) probably null Het
Akap9 A G 5: 4,011,852 (GRCm39) S852G possibly damaging Het
Aoc1 A G 6: 48,883,102 (GRCm39) D326G probably benign Het
Cecr2 A G 6: 120,739,229 (GRCm39) T1319A probably benign Het
Cenpo C T 12: 4,266,686 (GRCm39) V141I probably benign Het
Clca4b A G 3: 144,631,845 (GRCm39) L220S possibly damaging Het
Dicer1 A G 12: 104,670,991 (GRCm39) L1017P probably damaging Het
Ero1b T G 13: 12,589,728 (GRCm39) C44G probably damaging Het
Fmo3 T A 1: 162,796,281 (GRCm39) E97V probably benign Het
Gcnt4 G T 13: 97,083,634 (GRCm39) R310L possibly damaging Het
Gm7298 A G 6: 121,744,541 (GRCm39) I520V probably benign Het
Gmpr T C 13: 45,699,471 (GRCm39) L327P probably damaging Het
Grid2 T A 6: 64,677,506 (GRCm39) H108Q unknown Het
Hmcn2 G T 2: 31,301,917 (GRCm39) L2935F probably damaging Het
Hnf1b T C 11: 83,779,986 (GRCm39) S440P probably benign Het
Hsph1 A T 5: 149,543,395 (GRCm39) Y644N probably damaging Het
Igf2r A G 17: 12,924,646 (GRCm39) I1057T possibly damaging Het
Igfn1 T C 1: 135,906,001 (GRCm39) E269G probably damaging Het
Igkv14-126 A G 6: 67,873,352 (GRCm39) T27A possibly damaging Het
Inhca A T 9: 103,158,252 (GRCm39) Y103N probably benign Het
Kcnj15 A G 16: 95,097,556 (GRCm39) R393G unknown Het
Lamb1 A G 12: 31,348,863 (GRCm39) T632A probably damaging Het
Lrrk2 T C 15: 91,607,407 (GRCm39) L590P probably damaging Het
Mrm3 A G 11: 76,138,286 (GRCm39) T225A possibly damaging Het
Mthfd1l A G 10: 4,053,335 (GRCm39) T895A possibly damaging Het
Myh1 G A 11: 67,110,631 (GRCm39) probably null Het
Naip2 T A 13: 100,298,354 (GRCm39) K561* probably null Het
Necab2 C T 8: 120,173,923 (GRCm39) P44S probably benign Het
Nrde2 T C 12: 100,092,477 (GRCm39) S1126G probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or14j6 A G 17: 38,214,962 (GRCm39) H175R probably benign Het
Or8c17 T A 9: 38,179,926 (GRCm39) V31E possibly damaging Het
Pecam1 T G 11: 106,581,947 (GRCm39) D333A probably benign Het
Prss27 T C 17: 24,257,141 (GRCm39) probably benign Het
Rapgef2 T C 3: 79,082,300 (GRCm39) E100G probably damaging Het
Rnft2 A G 5: 118,340,982 (GRCm39) F299L probably damaging Het
Rptor A G 11: 119,562,152 (GRCm39) N105S possibly damaging Het
S100a7l2 T C 3: 90,997,698 (GRCm39) T6A unknown Het
Scgb2b3 T A 7: 31,059,642 (GRCm39) H44L probably benign Het
Slc22a17 A T 14: 55,147,139 (GRCm39) V53D possibly damaging Het
Slc39a14 G A 14: 70,547,569 (GRCm39) T298M probably benign Het
Sorbs1 G A 19: 40,315,324 (GRCm39) T496M probably damaging Het
Spata31e1 G C 13: 49,939,052 (GRCm39) T886S unknown Het
Taar8a T C 10: 23,952,753 (GRCm39) V119A probably benign Het
Tas1r3 T C 4: 155,945,059 (GRCm39) T721A possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmie A T 9: 110,696,651 (GRCm39) C77S probably damaging Het
Tpp2 T A 1: 43,999,369 (GRCm39) I381K probably damaging Het
Ttn G C 2: 76,776,822 (GRCm39) A1526G unknown Het
Vmn2r12 T A 5: 109,234,452 (GRCm39) M587L probably benign Het
Zeb2 G T 2: 44,888,912 (GRCm39) H344Q probably damaging Het
Zfp292 A G 4: 34,810,800 (GRCm39) I753T probably damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfp677 C T 17: 21,618,053 (GRCm39) T370M probably damaging Het
Zfp947 G A 17: 22,364,384 (GRCm39) T430I possibly damaging Het
Other mutations in Ffar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Ffar2 APN 7 30,518,601 (GRCm39) missense probably benign 0.00
IGL01655:Ffar2 APN 7 30,519,012 (GRCm39) missense probably damaging 1.00
R1874:Ffar2 UTSW 7 30,518,839 (GRCm39) splice site probably null
R3826:Ffar2 UTSW 7 30,519,510 (GRCm39) missense possibly damaging 0.77
R3827:Ffar2 UTSW 7 30,519,510 (GRCm39) missense possibly damaging 0.77
R3828:Ffar2 UTSW 7 30,519,510 (GRCm39) missense possibly damaging 0.77
R4156:Ffar2 UTSW 7 30,519,093 (GRCm39) missense probably damaging 1.00
R6377:Ffar2 UTSW 7 30,518,971 (GRCm39) missense probably benign 0.00
R6987:Ffar2 UTSW 7 30,519,108 (GRCm39) missense possibly damaging 0.94
R7270:Ffar2 UTSW 7 30,518,929 (GRCm39) missense probably benign 0.00
R7374:Ffar2 UTSW 7 30,519,465 (GRCm39) missense probably damaging 1.00
R7616:Ffar2 UTSW 7 30,519,357 (GRCm39) missense probably damaging 1.00
R7784:Ffar2 UTSW 7 30,518,683 (GRCm39) missense probably benign 0.01
R8494:Ffar2 UTSW 7 30,519,164 (GRCm39) nonsense probably null
R9117:Ffar2 UTSW 7 30,518,616 (GRCm39) missense probably damaging 0.97
R9566:Ffar2 UTSW 7 30,518,847 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGCATTGAGGGAACTGAACAC -3'
(R):5'- GGATCATGTCCTTTGGCCAC -3'

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