Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Or4f57'

105471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4f57

Ensembl Gene

ENSMUSG00000074952

Gene Name

olfactory receptor family 4 subfamily F member 57

Synonyms

MOR245-22, Olfr1308, GA_x6K02T2Q125-73008844-73007882

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

111790454-111791416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111790980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 146 (V146A)

Ref Sequence

ENSEMBL: ENSMUSP00000146688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]

AlphaFold

Q7TQX0

Predicted Effect

probably benign
Transcript: ENSMUST00000099605
AA Change: V146A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: V146A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	2.2e-39	PFAM
Pfam:7tm_1	41	287	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207560
AA Change: V146A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,762,711 (GRCm39)		probably benign	Het
Abca13	T	C	11: 9,199,749 (GRCm39)		probably benign	Het
Abcc6	G	A	7: 45,652,034 (GRCm39)	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,241,385 (GRCm39)	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472 (GRCm39)	F337L	possibly damaging	Het
Alg1	C	T	16: 5,062,383 (GRCm39)	R422C	probably benign	Het
Ankrd23	A	G	1: 36,573,147 (GRCm39)	L75S	probably damaging	Het
Arid5b	T	C	10: 67,933,439 (GRCm39)	H578R	probably damaging	Het
Atp10a	G	T	7: 58,447,310 (GRCm39)	W684L	probably benign	Het
Bzw2	T	C	12: 36,157,647 (GRCm39)		probably null	Het
C2cd2	A	T	16: 97,671,372 (GRCm39)	I509K	probably damaging	Het
Card11	T	C	5: 140,868,057 (GRCm39)	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,993,948 (GRCm39)	S278P	possibly damaging	Het
Chd8	T	C	14: 52,450,111 (GRCm39)	I208V	probably benign	Het
Cstf2t	T	C	19: 31,061,738 (GRCm39)	S425P	probably benign	Het
Cxcl1	A	G	5: 91,039,436 (GRCm39)	T60A	probably benign	Het
Diaph1	G	T	18: 37,986,762 (GRCm39)		probably benign	Het
Dnai4	T	C	4: 102,919,632 (GRCm39)	I139V	probably benign	Het
Exoc3l	T	G	8: 106,019,587 (GRCm39)	K394T	probably benign	Het
Fabp4	T	C	3: 10,270,293 (GRCm39)		probably benign	Het
Fam234b	T	A	6: 135,188,903 (GRCm39)	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,849,593 (GRCm39)	D204Y	possibly damaging	Het
Hephl1	A	T	9: 14,981,066 (GRCm39)	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,053,252 (GRCm39)	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,619,462 (GRCm39)	D226E	probably benign	Het
Lipo4	T	A	19: 33,490,013 (GRCm39)	Q163L	probably damaging	Het
Med13l	T	C	5: 118,880,472 (GRCm39)	I1188T	probably benign	Het
Mki67	T	C	7: 135,298,278 (GRCm39)	E2252G	probably benign	Het
Nepn	G	T	10: 52,276,660 (GRCm39)	R132L	probably benign	Het
Nlrp9b	T	A	7: 19,757,342 (GRCm39)	L193*	probably null	Het
Ntn1	A	G	11: 68,276,244 (GRCm39)	S235P	probably damaging	Het
Nup210l	G	T	3: 90,061,873 (GRCm39)	R684L	probably damaging	Het
Obi1	T	C	14: 104,716,738 (GRCm39)	D545G	probably damaging	Het
Obp2b	A	G	2: 25,629,293 (GRCm39)	S154G	possibly damaging	Het
Or10ag59	A	G	2: 87,406,282 (GRCm39)	T285A	probably benign	Het
Or51b6b	T	A	7: 103,310,053 (GRCm39)	T135S	probably benign	Het
Or5p1	A	T	7: 107,916,682 (GRCm39)	I194F	probably benign	Het
Polr3b	A	T	10: 84,467,704 (GRCm39)	R95*	probably null	Het
Prelid2	C	T	18: 42,070,714 (GRCm39)	V40M	probably benign	Het
Ptprb	T	G	10: 116,208,781 (GRCm39)	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,551,240 (GRCm39)	V79A	probably benign	Het
Stam2	A	G	2: 52,598,162 (GRCm39)	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,704,189 (GRCm39)	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,259,721 (GRCm39)	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,757 (GRCm39)	*852K	probably null	Het
Zfp7	C	T	15: 76,772,505 (GRCm39)	Q69*	probably null	Het
Zfp865	G	T	7: 5,032,875 (GRCm39)	A287S	probably benign	Het
Zmpste24	T	A	4: 120,955,081 (GRCm39)	Q39L	probably benign	Het

Other mutations in Or4f57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Or4f57	APN	2	111,790,620 (GRCm39)	missense	possibly damaging	0.84
IGL01359:Or4f57	APN	2	111,791,406 (GRCm39)	missense	probably benign
IGL01788:Or4f57	APN	2	111,791,352 (GRCm39)	missense	probably benign
IGL02385:Or4f57	APN	2	111,790,603 (GRCm39)	missense	probably benign	0.00
IGL02969:Or4f57	APN	2	111,790,912 (GRCm39)	missense	probably damaging	1.00
R0102:Or4f57	UTSW	2	111,790,942 (GRCm39)	missense	probably damaging	1.00
R0102:Or4f57	UTSW	2	111,790,942 (GRCm39)	missense	probably damaging	1.00
R0244:Or4f57	UTSW	2	111,791,361 (GRCm39)	missense	probably benign	0.13
R0265:Or4f57	UTSW	2	111,790,839 (GRCm39)	missense	probably damaging	0.99
R1268:Or4f57	UTSW	2	111,791,222 (GRCm39)	missense	possibly damaging	0.78
R1406:Or4f57	UTSW	2	111,790,926 (GRCm39)	missense	probably benign	0.07
R1406:Or4f57	UTSW	2	111,790,926 (GRCm39)	missense	probably benign	0.07
R1568:Or4f57	UTSW	2	111,790,585 (GRCm39)	missense	probably benign	0.02
R2401:Or4f57	UTSW	2	111,790,494 (GRCm39)	missense	probably benign	0.01
R4396:Or4f57	UTSW	2	111,790,560 (GRCm39)	missense	probably damaging	1.00
R4528:Or4f57	UTSW	2	111,791,293 (GRCm39)	missense	probably damaging	1.00
R5916:Or4f57	UTSW	2	111,791,175 (GRCm39)	missense	probably damaging	1.00
R6332:Or4f57	UTSW	2	111,791,091 (GRCm39)	missense	probably damaging	0.98
R6595:Or4f57	UTSW	2	111,790,515 (GRCm39)	missense	possibly damaging	0.95
R7339:Or4f57	UTSW	2	111,790,956 (GRCm39)	missense	probably benign	0.12
R7917:Or4f57	UTSW	2	111,791,310 (GRCm39)	missense	probably damaging	0.98
R8017:Or4f57	UTSW	2	111,790,918 (GRCm39)	missense	probably damaging	0.99
R8092:Or4f57	UTSW	2	111,790,652 (GRCm39)	missense	probably benign	0.00
R8246:Or4f57	UTSW	2	111,790,483 (GRCm39)	missense	probably benign	0.05
R9389:Or4f57	UTSW	2	111,790,872 (GRCm39)	missense	probably damaging	1.00
R9515:Or4f57	UTSW	2	111,790,584 (GRCm39)	missense	possibly damaging	0.54
R9631:Or4f57	UTSW	2	111,791,377 (GRCm39)	missense	probably benign	0.13

Posted On

2014-01-21