Mutagenetix > Incidental Mutation

Incidental Mutation 'R6987:Ffar2'

543026

Institutional Source

Beutler Lab

Gene Symbol

Ffar2

Ensembl Gene

ENSMUSG00000051314

Gene Name

free fatty acid receptor 2

Synonyms

Gpr43

MMRRC Submission

045094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30517778-30523200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30519108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

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: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: V144A

Domain	Start	End	E-Value	Type
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: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: V144A

Domain	Start	End	E-Value	Type
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: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: V144A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	133	1.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186339
AA Change: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140493
Gene: ENSMUSG00000051314
AA Change: V144A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	142	1.5e-22	PFAM

Meta Mutation Damage Score

0.8376

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.9%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,629,978 (GRCm39)	I137V	probably benign	Het
Agtr1b	A	C	3: 20,370,585 (GRCm39)	I7S	probably benign	Het
Akt2	G	T	7: 27,332,666 (GRCm39)	V215L	probably damaging	Het
Ccdc148	C	A	2: 58,872,926 (GRCm39)	L294F	probably damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Cldnd1	A	G	16: 58,551,734 (GRCm39)	D121G	probably benign	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2c40	A	G	19: 39,801,211 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,881,065 (GRCm39)	I601V	possibly damaging	Het
Dnhd1	C	A	7: 105,353,792 (GRCm39)	H2982N	probably damaging	Het
Elavl4	A	T	4: 110,108,602 (GRCm39)	D55E	possibly damaging	Het
Enc1	T	C	13: 97,382,144 (GRCm39)	I218T	probably benign	Het
Fbln2	T	A	6: 91,211,211 (GRCm39)	V385D	probably benign	Het
Fsip2	C	T	2: 82,778,630 (GRCm39)	Q159*	probably null	Het
Golga4	A	G	9: 118,387,600 (GRCm39)	H1574R	probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Lama4	A	G	10: 38,950,275 (GRCm39)	N985D	probably benign	Het
Lrp1	T	C	10: 127,410,874 (GRCm39)	N1438S	probably damaging	Het
Masp1	C	A	16: 23,332,665 (GRCm39)	V57F	probably damaging	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Nos1	C	T	5: 118,033,850 (GRCm39)	T324M	probably benign	Het
Npas3	A	G	12: 54,115,036 (GRCm39)	K635E	possibly damaging	Het
Or5p4	C	A	7: 107,680,338 (GRCm39)	C112*	probably null	Het
Or8b12i	A	T	9: 20,082,130 (GRCm39)	S246T	probably benign	Het
Osbp2	T	C	11: 3,667,958 (GRCm39)	E13G	probably damaging	Het
Pira12	A	G	7: 3,900,660 (GRCm39)	I30T	probably damaging	Het
Pkd1l1	A	G	11: 8,852,575 (GRCm39)	M636T	probably benign	Het
Pla2g4e	C	T	2: 120,016,861 (GRCm39)	A227T	probably benign	Het
Prex2	C	A	1: 11,240,976 (GRCm39)	A1028E	probably damaging	Het
Prr14	A	G	7: 127,072,977 (GRCm39)	D49G	possibly damaging	Het
Slc9a9	A	G	9: 94,552,043 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,660,021 (GRCm39)	C960R	probably benign	Het
Taf15	C	A	11: 83,375,521 (GRCm39)	T31K	possibly damaging	Het
Tdrd9	C	A	12: 111,992,027 (GRCm39)	Q601K	possibly damaging	Het
Tes	C	A	6: 17,086,154 (GRCm39)	Q16K	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem168	T	A	6: 13,591,476 (GRCm39)	M63L	possibly damaging	Het
Trav14-1	C	T	14: 53,791,916 (GRCm39)	R89*	probably null	Het
Trp53bp2	A	T	1: 182,274,200 (GRCm39)	Y615F	probably damaging	Het
Ttc27	T	C	17: 75,084,736 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,874,068 (GRCm39)	V548E	probably damaging	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vmn1r69	A	G	7: 10,314,491 (GRCm39)	M1T	probably null	Het
Zfp729a	T	A	13: 67,768,058 (GRCm39)	K724*	probably null	Het
Zfp850	A	T	7: 27,689,426 (GRCm39)	C261S	probably damaging	Het
Zfp882	T	A	8: 72,668,517 (GRCm39)	V448E	probably benign	Het
Zzef1	A	G	11: 72,746,340 (GRCm39)	M881V	possibly damaging	Het

Other mutations in Ffar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGAGCATGATCCACACGAAG -3'
(R):5'- CAACTTCCGCTGGTACCTAC -3'

Sequencing Primer
(F):5'- GCGCCAATAACAGAAGATGGTGAC -3'
(R):5'- GGTACCTACCAAAGATCGTGTGC -3'

Posted On

2018-11-28