Incidental Mutation 'R7784:Ffar2'
ID 599438
Institutional Source Beutler Lab
Gene Symbol Ffar2
Ensembl Gene ENSMUSG00000051314
Gene Name free fatty acid receptor 2
Synonyms Gpr43
MMRRC Submission 045840-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7784 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30517778-30523200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30518683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 286 (K286E)
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: K286E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: K286E

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: K286E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: K286E

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: K286E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: K286E

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: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,638 (GRCm39) probably null Het
3425401B19Rik A T 14: 32,381,797 (GRCm39) S1389R probably benign Het
Abca9 A T 11: 110,045,243 (GRCm39) C363* probably null Het
Actbl2 T A 13: 111,391,945 (GRCm39) N93K probably damaging Het
Adamtsl3 T C 7: 82,223,197 (GRCm39) Y993H probably damaging Het
Adgrg1 G A 8: 95,739,510 (GRCm39) W653* probably null Het
Akap13 T A 7: 75,260,076 (GRCm39) V97D probably benign Het
Cacna1d T A 14: 29,845,396 (GRCm39) D613V probably damaging Het
Col10a1 C A 10: 34,270,214 (GRCm39) P62H unknown Het
Cpb2 A T 14: 75,512,480 (GRCm39) N298Y probably damaging Het
Ddc A G 11: 11,789,396 (GRCm39) probably null Het
Ddx6 T C 9: 44,541,439 (GRCm39) probably null Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Eps8 T A 6: 137,476,585 (GRCm39) I605L probably benign Het
Eps8l1 T C 7: 4,475,121 (GRCm39) L304P probably damaging Het
Erbb4 T A 1: 68,114,658 (GRCm39) I929F probably damaging Het
Erc2 A T 14: 27,620,551 (GRCm39) N393I probably damaging Het
Fbxw25 C T 9: 109,479,187 (GRCm39) D355N Het
Gabrd A G 4: 155,473,389 (GRCm39) probably null Het
Ganc G A 2: 120,267,149 (GRCm39) W488* probably null Het
Ifi207 T A 1: 173,557,698 (GRCm39) M347L unknown Het
Kat6b A T 14: 21,710,909 (GRCm39) I619F probably damaging Het
Kif26a A G 12: 112,144,581 (GRCm39) R1612G possibly damaging Het
Kifc3 A G 8: 95,837,320 (GRCm39) probably null Het
Krt39 A T 11: 99,411,857 (GRCm39) C76* probably null Het
Lcmt1 G T 7: 123,000,718 (GRCm39) R84L probably benign Het
Lrit1 A G 14: 36,783,737 (GRCm39) Y355C probably benign Het
Mad2l1 C A 6: 66,512,397 (GRCm39) probably null Het
Med23 C T 10: 24,778,346 (GRCm39) T870M probably damaging Het
Mrpl2 A G 17: 46,959,517 (GRCm39) probably null Het
Mtmr6 A G 14: 60,537,894 (GRCm39) D593G probably benign Het
Myo15b G A 11: 115,752,166 (GRCm39) V683M Het
Neb T A 2: 52,125,500 (GRCm39) M506L Het
Or12d13 T C 17: 37,647,469 (GRCm39) Y218C probably benign Het
Or12d13 A G 17: 37,647,946 (GRCm39) F59S probably damaging Het
Or2a20 T A 6: 43,194,322 (GRCm39) H158Q possibly damaging Het
Or9m1 G A 2: 87,733,537 (GRCm39) T161I probably benign Het
Pdzd8 A G 19: 59,316,295 (GRCm39) F294L probably damaging Het
Rabgap1 G A 2: 37,377,544 (GRCm39) S347N possibly damaging Het
Rasgrf2 T C 13: 92,044,201 (GRCm39) T350A Het
Rbp3 A T 14: 33,676,115 (GRCm39) H21L probably benign Het
Rp1 C A 1: 4,212,881 (GRCm39) V1069F unknown Het
Rtn4 T A 11: 29,691,048 (GRCm39) L1113* probably null Het
Ryr3 A G 2: 112,606,040 (GRCm39) F2407L probably damaging Het
Septin2 T A 1: 93,425,166 (GRCm39) D107E probably damaging Het
Septin4 A G 11: 87,469,834 (GRCm39) T7A probably benign Het
Slc34a3 T A 2: 25,122,237 (GRCm39) I123F probably damaging Het
Slc9a4 T C 1: 40,639,936 (GRCm39) Y243H probably damaging Het
Slco1a1 T A 6: 141,889,114 (GRCm39) E66V probably damaging Het
Slco1a7 C T 6: 141,658,919 (GRCm39) probably null Het
Sp140l2 T A 1: 85,190,195 (GRCm39) probably null Het
Spata33 A G 8: 123,939,991 (GRCm39) R68G unknown Het
Spta1 G A 1: 174,030,017 (GRCm39) D928N probably damaging Het
St8sia5 A G 18: 77,342,246 (GRCm39) S319G probably benign Het
Tmem208 A G 8: 106,055,465 (GRCm39) D149G possibly damaging Het
Trank1 A T 9: 111,193,171 (GRCm39) I583F probably damaging Het
Trio C T 15: 27,764,080 (GRCm39) V2015M probably damaging Het
Tsc22d1 C T 14: 76,654,141 (GRCm39) Q207* probably null Het
Tshr A G 12: 91,472,079 (GRCm39) D143G probably benign Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Ush2a A T 1: 188,176,789 (GRCm39) T1318S possibly damaging Het
Utp14b A G 1: 78,642,660 (GRCm39) K186R probably damaging Het
Vars2 C T 17: 35,969,050 (GRCm39) A884T possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp775 A G 6: 48,596,183 (GRCm39) Q19R 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
R8494:Ffar2 UTSW 7 30,519,164 (GRCm39) nonsense probably null
R9117:Ffar2 UTSW 7 30,518,616 (GRCm39) missense probably damaging 0.97
R9371:Ffar2 UTSW 7 30,518,929 (GRCm39) missense probably benign 0.00
R9566:Ffar2 UTSW 7 30,518,847 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCCAAATGCTCGGGAAGATC -3'
(R):5'- TTCGTGTGGATCATGCTCAC -3'

Sequencing Primer
(F):5'- AAGATCCGGGGGACTCTCTACTC -3'
(R):5'- CACGTTGGGGCTCAGAG -3'
Posted On 2019-11-26