Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Ffar2'

275405

Institutional Source

Beutler Lab

Gene Symbol

Ffar2

Ensembl Gene

ENSMUSG00000051314

Gene Name

free fatty acid receptor 2

Synonyms

Gpr43

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: I10N

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: I10N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: I10N

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: ENSMUST00000186059
AA Change: I10N

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140484
Gene: ENSMUSG00000051314
AA Change: I10N

Domain	Start	End	E-Value	Type
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

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

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

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

Meta Mutation Damage Score

0.2356

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	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
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	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
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
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'- TGTAGAAGCCGAAGCCTGTC -3'
(R):5'- CAGACAGCTTTGGACTGAGG -3'

Sequencing Primer
(F):5'- GCACACGATCTTTGGTAGGTACC -3'
(R):5'- CTGAGGACAGGAGAGAACCAG -3'

Posted On

2015-04-02