Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02412:Or51f1d'

294367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51f1d

Ensembl Gene

ENSMUSG00000073960

Gene Name

olfactory receptor family 51 subfamily F member 1D

Synonyms

Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL02412

Quality Score

Status

Chromosome

Chromosomal Location

102700507-102701466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102701359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 285 (M285L)

Ref Sequence

ENSEMBL: ENSMUSP00000095812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098211]

AlphaFold

Q8VG25

Predicted Effect

probably benign
Transcript: ENSMUST00000098211
AA Change: M285L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: M285L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	9.1e-107	PFAM
Pfam:7TM_GPCR_Srsx	45	316	1.4e-5	PFAM
Pfam:7tm_1	50	301	9.6e-20	PFAM

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
Alms1	T	A	6: 85,605,854 (GRCm39)	F2032L	possibly damaging	Het
Caps2	T	C	10: 112,039,941 (GRCm39)		probably null	Het
Ccdc88b	A	T	19: 6,824,012 (GRCm39)	F1414I	probably damaging	Het
Cr1l	T	G	1: 194,797,080 (GRCm39)	Y319S	probably damaging	Het
Cr1l	C	T	1: 194,797,074 (GRCm39)	G283E	probably damaging	Het
Csmd2	G	A	4: 128,407,165 (GRCm39)		probably benign	Het
Dhx37	T	A	5: 125,508,692 (GRCm39)	K81M	probably damaging	Het
Dzip3	T	A	16: 48,778,820 (GRCm39)	M326L	probably benign	Het
Exosc10	A	G	4: 148,652,849 (GRCm39)	D488G	probably benign	Het
Gm2058	G	A	7: 39,238,457 (GRCm39)		noncoding transcript	Het
Gm43638	T	A	5: 87,633,995 (GRCm39)	Q204L	possibly damaging	Het
Gm4847	T	C	1: 166,469,307 (GRCm39)	D119G	probably damaging	Het
Gnb3	A	C	6: 124,814,425 (GRCm39)	M120R	probably benign	Het
Il16	A	C	7: 83,301,899 (GRCm39)	D74E	probably benign	Het
Kpna1	T	C	16: 35,851,561 (GRCm39)	F382L	probably benign	Het
Krt33a	G	T	11: 99,902,805 (GRCm39)	Q340K	probably benign	Het
Lrrc17	T	A	5: 21,765,877 (GRCm39)	S120T	possibly damaging	Het
Mapk3	C	A	7: 126,362,210 (GRCm39)	Y56*	probably null	Het
Mfhas1	C	T	8: 36,055,969 (GRCm39)	A148V	probably benign	Het
Npr2	A	G	4: 43,647,005 (GRCm39)	I713V	probably damaging	Het
Obp1a	T	A	X: 77,131,980 (GRCm39)	Y108F	probably damaging	Het
Or5ac21	T	A	16: 59,123,555 (GRCm39)	L13H	probably damaging	Het
Or6n1	T	C	1: 173,916,809 (GRCm39)	F68L	probably benign	Het
Or7e178	T	A	9: 20,225,935 (GRCm39)	S86C	probably benign	Het
Pias1	A	T	9: 62,800,421 (GRCm39)	N430K	probably benign	Het
Ralgapa2	G	T	2: 146,254,052 (GRCm39)	A836D	probably damaging	Het
Rftn2	T	C	1: 55,245,497 (GRCm39)	E238G	probably benign	Het
Samt4	T	G	X: 153,267,118 (GRCm39)	S86A	probably damaging	Het
Setd2	T	C	9: 110,379,842 (GRCm39)	M1219T	probably benign	Het
Sh3pxd2b	T	A	11: 32,337,992 (GRCm39)	D99E	probably damaging	Het
Sh3rf1	A	T	8: 61,825,723 (GRCm39)	T573S	probably benign	Het
Sugct	A	G	13: 17,837,386 (GRCm39)	W82R	probably damaging	Het
Syt4	T	G	18: 31,576,896 (GRCm39)	K153Q	probably benign	Het
Tbrg1	T	C	9: 37,563,908 (GRCm39)		probably null	Het
Tex36	C	T	7: 133,189,137 (GRCm39)	R145K	probably benign	Het
Tfap2b	A	T	1: 19,289,427 (GRCm39)	D166V	probably damaging	Het
Trhde	T	C	10: 114,322,830 (GRCm39)	Y694C	probably damaging	Het
Trpc1	G	A	9: 95,618,914 (GRCm39)	L146F	probably damaging	Het
Ttc29	G	A	8: 79,003,569 (GRCm39)	E262K	possibly damaging	Het
Ttn	A	T	2: 76,547,293 (GRCm39)	I32251N	probably damaging	Het
Ttn	G	T	2: 76,612,691 (GRCm39)	D17129E	probably benign	Het
Ucma	T	A	2: 4,981,636 (GRCm39)	I47N	probably damaging	Het
Vmn1r13	A	T	6: 57,187,474 (GRCm39)	K211M	possibly damaging	Het
Vmn2r95	A	C	17: 18,660,218 (GRCm39)	H210P	probably damaging	Het
Xpc	T	C	6: 91,476,767 (GRCm39)	E444G	probably benign	Het
Yy1	T	C	12: 108,760,023 (GRCm39)		probably benign	Het
Zfp217	A	G	2: 169,954,422 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,720,043 (GRCm39)	Y1080*	probably null	Het

Other mutations in Or51f1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Or51f1d	APN	7	102,700,582 (GRCm39)	missense	probably benign	0.02
IGL02200:Or51f1d	APN	7	102,701,000 (GRCm39)	missense	probably benign
IGL02452:Or51f1d	APN	7	102,701,138 (GRCm39)	missense	probably benign	0.00
IGL02859:Or51f1d	APN	7	102,701,345 (GRCm39)	missense	probably benign	0.00
IGL03078:Or51f1d	APN	7	102,701,036 (GRCm39)	missense	probably damaging	1.00
R0675:Or51f1d	UTSW	7	102,700,909 (GRCm39)	missense	probably benign	0.22
R1474:Or51f1d	UTSW	7	102,701,288 (GRCm39)	missense	probably damaging	1.00
R1531:Or51f1d	UTSW	7	102,700,795 (GRCm39)	missense	probably benign	0.00
R1535:Or51f1d	UTSW	7	102,700,576 (GRCm39)	missense	probably benign	0.14
R1777:Or51f1d	UTSW	7	102,700,583 (GRCm39)	missense	probably benign	0.41
R1883:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R1884:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R2265:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2267:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2269:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2299:Or51f1d	UTSW	7	102,700,789 (GRCm39)	missense	probably damaging	0.99
R3802:Or51f1d	UTSW	7	102,701,372 (GRCm39)	missense	probably benign	0.05
R4239:Or51f1d	UTSW	7	102,701,003 (GRCm39)	missense	probably benign	0.17
R4426:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00
R5335:Or51f1d	UTSW	7	102,700,742 (GRCm39)	missense	probably damaging	1.00
R6048:Or51f1d	UTSW	7	102,700,526 (GRCm39)	missense	probably benign	0.00
R6270:Or51f1d	UTSW	7	102,700,538 (GRCm39)	missense	probably benign	0.27
R6837:Or51f1d	UTSW	7	102,700,929 (GRCm39)	nonsense	probably null
R7257:Or51f1d	UTSW	7	102,700,837 (GRCm39)	missense	probably benign	0.39
R8506:Or51f1d	UTSW	7	102,700,709 (GRCm39)	missense	probably damaging	1.00
R8947:Or51f1d	UTSW	7	102,701,315 (GRCm39)	missense	probably damaging	0.99
R9638:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16