Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02486:Ffar4'

295419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ffar4

Ensembl Gene

ENSMUSG00000054200

Gene Name

free fatty acid receptor 4

Synonyms

Gpr120, Pgr4, Gpr129, Ffa4, O3far1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02486

Quality Score

Status

Chromosome

Chromosomal Location

38085527-38102711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38102208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 281 (I281T)

Ref Sequence

ENSEMBL: ENSMUSP00000063660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000067098] [ENSMUST00000112335]

AlphaFold

Q7TMA4

Predicted Effect

probably benign
Transcript: ENSMUST00000025951

SMART Domains

Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990

Domain	Start	End	E-Value	Type
low complexity region	47	60	N/A	INTRINSIC
Pfam:Lipocalin_2	77	229	8.2e-9	PFAM
Pfam:Lipocalin	83	229	8.3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067098
AA Change: I281T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063660
Gene: ENSMUSG00000054200
AA Change: I281T

Domain	Start	End	E-Value	Type
Pfam:7tm_1	57	321	1.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112335

SMART Domains

Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin_2	33	186	3.6e-9	PFAM
Pfam:Lipocalin	39	185	6.5e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for a null allele show altered taste responses to fatty acids. Homozygotes for another null allele develop obesity, liver steatosis, and impaired glucose metabolism, adipogenesis and lipogenesis on a high-fat diet. Homozygotes for a third allele show altered islet somatostatin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	T	A	X: 111,424,955 (GRCm39)	N147K	probably benign	Het
Abtb3	C	A	10: 85,476,419 (GRCm39)	P900H	probably damaging	Het
Bcas1	T	C	2: 170,248,318 (GRCm39)	D201G	probably damaging	Het
Bmp1	T	A	14: 70,742,216 (GRCm39)	D333V	possibly damaging	Het
Capn6	T	C	X: 142,587,673 (GRCm39)	E535G	probably benign	Het
Cdin1	T	C	2: 115,607,487 (GRCm39)	V280A	possibly damaging	Het
Chac2	T	C	11: 30,927,625 (GRCm39)	D86G	probably damaging	Het
Col14a1	T	A	15: 55,252,092 (GRCm39)		probably benign	Het
Daam1	T	C	12: 71,993,919 (GRCm39)		probably benign	Het
Elapor2	T	A	5: 9,472,323 (GRCm39)	V340E	probably benign	Het
Eno4	A	G	19: 58,934,097 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,478,109 (GRCm39)	V2385A	probably benign	Het
Flcn	C	T	11: 59,691,869 (GRCm39)	W260*	probably null	Het
Fry	T	G	5: 150,414,642 (GRCm39)	S496A	probably damaging	Het
Gk	T	A	X: 84,759,274 (GRCm39)	I373F	possibly damaging	Het
Gpr108	T	C	17: 57,542,977 (GRCm39)	N528S	probably damaging	Het
Hey1	T	A	3: 8,731,579 (GRCm39)	R50W	probably damaging	Het
Hgf	A	G	5: 16,807,287 (GRCm39)	Y393C	probably damaging	Het
Hmcn2	A	T	2: 31,310,107 (GRCm39)	E3260D	probably damaging	Het
Ift172	A	G	5: 31,414,927 (GRCm39)	I1365T	probably damaging	Het
Letmd1	A	G	15: 100,372,992 (GRCm39)	R31G	probably damaging	Het
Mak16	T	C	8: 31,650,614 (GRCm39)		probably benign	Het
Mapkapk3	C	T	9: 107,166,467 (GRCm39)	G26D	probably damaging	Het
Mphosph8	T	C	14: 56,925,844 (GRCm39)	V603A	possibly damaging	Het
Myom1	G	T	17: 71,406,939 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,172,615 (GRCm39)	N1564I	possibly damaging	Het
Nox1	C	T	X: 132,993,560 (GRCm39)	G433D	probably damaging	Het
Or11h6	T	C	14: 50,880,089 (GRCm39)	F111S	probably damaging	Het
Or2n1b	T	A	17: 38,460,112 (GRCm39)	L211Q	probably damaging	Het
Or51i2	T	C	7: 103,689,617 (GRCm39)	S205P	probably damaging	Het
Or52m1	A	T	7: 102,289,627 (GRCm39)	H58L	probably damaging	Het
Rcc2	T	C	4: 140,437,673 (GRCm39)	W135R	probably damaging	Het
Rgl2	A	G	17: 34,154,954 (GRCm39)	I205V	probably damaging	Het
Robo4	G	A	9: 37,319,670 (GRCm39)	G640E	probably damaging	Het
Slc26a5	A	G	5: 22,051,323 (GRCm39)	F64L	probably damaging	Het
Slc27a2	A	G	2: 126,395,270 (GRCm39)	T66A	probably benign	Het
St18	T	C	1: 6,890,307 (GRCm39)	S580P	probably damaging	Het
Syt15	G	A	14: 33,944,933 (GRCm39)	R160K	probably damaging	Het
Tmem63b	A	G	17: 45,984,909 (GRCm39)	S200P	probably damaging	Het
Tnks	T	A	8: 35,318,352 (GRCm39)	N841I	probably damaging	Het
Tnr	G	A	1: 159,679,664 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,960,632 (GRCm39)		probably benign	Het
Usp4	T	C	9: 108,228,228 (GRCm39)	L74P	probably damaging	Het

Other mutations in Ffar4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ffar4	APN	19	38,095,837 (GRCm39)	missense	probably benign
IGL01734:Ffar4	APN	19	38,102,295 (GRCm39)	missense	probably damaging	1.00
IGL01932:Ffar4	APN	19	38,085,978 (GRCm39)	missense	probably damaging	1.00
IGL02160:Ffar4	APN	19	38,085,903 (GRCm39)	missense	possibly damaging	0.91
R0047:Ffar4	UTSW	19	38,102,452 (GRCm39)	unclassified	probably benign
R0492:Ffar4	UTSW	19	38,085,630 (GRCm39)	missense	probably benign
R4956:Ffar4	UTSW	19	38,086,028 (GRCm39)	missense	probably benign	0.01
R5091:Ffar4	UTSW	19	38,085,627 (GRCm39)	missense	probably benign
R5634:Ffar4	UTSW	19	38,102,373 (GRCm39)	unclassified	probably benign
R5756:Ffar4	UTSW	19	38,102,406 (GRCm39)	missense	probably damaging	0.99
R6778:Ffar4	UTSW	19	38,102,112 (GRCm39)	missense	possibly damaging	0.56
R8030:Ffar4	UTSW	19	38,095,839 (GRCm39)	missense	possibly damaging	0.80
R9047:Ffar4	UTSW	19	38,102,232 (GRCm39)	missense	possibly damaging	0.91
R9494:Ffar4	UTSW	19	38,086,083 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16