Incidental Mutation 'R3827:Ffar2'
ID 273803
Institutional Source Beutler Lab
Gene Symbol Ffar2
Ensembl Gene ENSMUSG00000051314
Gene Name free fatty acid receptor 2
Synonyms Gpr43
MMRRC Submission 040775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3827 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30517778-30523200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30519510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 10 (I10N)
Ref Sequence ENSEMBL: ENSMUSP00000140493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053156] [ENSMUST00000163504] [ENSMUST00000168528] [ENSMUST00000186059] [ENSMUST00000186339] [ENSMUST00000186534]
AlphaFold Q8VCK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000053156
AA Change: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.1e-8 PFAM
Pfam:7tm_1 24 273 1.7e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163504
AA Change: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.2e-8 PFAM
Pfam:7tm_1 24 277 1.2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168528
AA Change: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 10 284 3.1e-8 PFAM
Pfam:7tm_1 24 273 1.7e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186059
AA Change: I10N

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140484
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7tm_1 24 133 1.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186339
AA Change: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140493
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 8 175 1.9e-4 PFAM
Pfam:7tm_1 24 179 1.4e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186534
AA Change: I10N

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140215
Gene: ENSMUSG00000051314
AA Change: I10N

DomainStartEndE-ValueType
Pfam:7tm_1 24 142 1.5e-22 PFAM
Meta Mutation Damage Score 0.2356 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,110,467 (GRCm39) N878S probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Cntnap5a G A 1: 116,045,409 (GRCm39) D342N probably benign Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dpp10 G A 1: 123,339,519 (GRCm39) T336I possibly damaging Het
Ehmt2 T C 17: 35,125,741 (GRCm39) S625P possibly damaging Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Gab2 T A 7: 96,872,948 (GRCm39) I117N probably damaging Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gper1 T C 5: 139,412,755 (GRCm39) S367P probably benign Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
H2-Q6 A T 17: 35,644,655 (GRCm39) N148I probably damaging Het
Kif21b T C 1: 136,090,732 (GRCm39) probably null Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or52e19 T A 7: 102,959,009 (GRCm39) I27N probably benign Het
Paip1 T A 13: 119,566,768 (GRCm39) M1K probably null Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,788,697 (GRCm39) S241P possibly damaging Het
Skint6 G T 4: 112,794,634 (GRCm39) L712I probably benign Het
Slc35a4 C A 18: 36,816,041 (GRCm39) N290K probably damaging Het
Slco1a5 T A 6: 142,198,975 (GRCm39) D230V probably damaging Het
Sox21 C T 14: 118,472,870 (GRCm39) E60K possibly damaging Het
Steap3 G A 1: 120,155,460 (GRCm39) R500C probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Sulf1 G A 1: 12,887,656 (GRCm39) V277I probably benign Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Syne2 A G 12: 76,033,805 (GRCm39) R3685G probably benign Het
Tmem203 T A 2: 25,146,018 (GRCm39) W113R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Vmn2r102 T A 17: 19,914,787 (GRCm39) V784E probably damaging Het
Wrn T C 8: 33,814,548 (GRCm39) T56A probably benign Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably 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
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
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'- TTGGATGCTGCTTCCACGATC -3'
(R):5'- GGCTAAGTCAATAATTGCTCTGGG -3'

Sequencing Primer
(F):5'- CAGGGTCAGATTAAGCAGG -3'
(R):5'- CTCTGGGCAGTTCTGGCAG -3'
Posted On 2015-04-02