Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02125:Or51k2'

280809

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51k2

Ensembl Gene

ENSMUSG00000073937

Gene Name

olfactory receptor family 51 subfamily K member 2

Synonyms

MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

103595775-103596713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103596279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 169 (C169S)

Ref Sequence

ENSEMBL: ENSMUSP00000149105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]

AlphaFold

Q8VF02

Predicted Effect

probably damaging
Transcript: ENSMUST00000098188
AA Change: C169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: C169S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1.3e-120	PFAM
Pfam:7TM_GPCR_Srsx	35	158	7e-10	PFAM
Pfam:7tm_1	41	292	2.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216006
AA Change: C169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,974 (GRCm39)	C493*	probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd12	A	G	17: 66,277,139 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,506,413 (GRCm39)	T213I	probably damaging	Het
Baz2b	A	G	2: 59,798,984 (GRCm39)	L380S	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,391,103 (GRCm39)	Q411*	probably null	Het
Cdh19	A	G	1: 110,857,614 (GRCm39)	V240A	possibly damaging	Het
Cltc	A	T	11: 86,595,636 (GRCm39)		probably benign	Het
Dclk3	T	A	9: 111,298,175 (GRCm39)	V573E	probably damaging	Het
Dhx29	T	C	13: 113,091,834 (GRCm39)		probably benign	Het
Dip2b	T	C	15: 100,084,131 (GRCm39)	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,747,959 (GRCm39)	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,402,391 (GRCm39)	S41P	possibly damaging	Het
Galc	A	T	12: 98,197,768 (GRCm39)	Y120N	probably damaging	Het
Gldc	T	C	19: 30,124,641 (GRCm39)	N219S	probably benign	Het
Gm11563	A	T	11: 99,549,631 (GRCm39)	V41E	unknown	Het
Gpatch11	T	A	17: 79,147,538 (GRCm39)	N106K	probably benign	Het
Gpx3	A	G	11: 54,798,068 (GRCm39)	N68S	probably damaging	Het
Ibtk	T	C	9: 85,617,123 (GRCm39)	N150D	probably damaging	Het
Iglc2	G	A	16: 19,017,462 (GRCm39)	P48S	probably benign	Het
Itih5	G	A	2: 10,245,798 (GRCm39)	R629H	probably benign	Het
Kank1	T	A	19: 25,388,067 (GRCm39)	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,759,983 (GRCm39)	H655L	probably damaging	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Mrtfb	A	G	16: 13,218,047 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,913,188 (GRCm39)	I6943T	probably damaging	Het
Obscn	G	T	11: 58,984,152 (GRCm39)	Q1768K	possibly damaging	Het
Or5ac25	T	C	16: 59,181,879 (GRCm39)	N234S	probably benign	Het
Otud3	A	T	4: 138,624,025 (GRCm39)		probably null	Het
Parp4	A	G	14: 56,827,959 (GRCm39)	K237E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pttg1ip2	T	C	5: 5,500,644 (GRCm39)	*151W	probably null	Het
Rbbp6	T	C	7: 122,570,352 (GRCm39)		probably null	Het
Rdh16	G	T	10: 127,647,188 (GRCm39)		probably benign	Het
Ropn1	A	G	16: 34,487,147 (GRCm39)	T28A	probably benign	Het
Sec24d	T	C	3: 123,152,607 (GRCm39)	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,082,474 (GRCm39)	L263F	probably damaging	Het
Shq1	T	C	6: 100,607,967 (GRCm39)	T315A	probably benign	Het
Slc13a4	T	C	6: 35,255,223 (GRCm39)	E355G	probably benign	Het
Slc26a9	T	C	1: 131,687,175 (GRCm39)	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,098,515 (GRCm39)	M550L	probably benign	Het
Spata31e5	T	C	1: 28,815,419 (GRCm39)	N871S	possibly damaging	Het
Syt17	T	C	7: 118,009,197 (GRCm39)	D341G	probably benign	Het
Tmem62	A	G	2: 120,826,993 (GRCm39)	Y430C	probably benign	Het
Upp1	A	G	11: 9,075,650 (GRCm39)		probably benign	Het
Vmn1r91	T	G	7: 19,835,429 (GRCm39)	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,809,963 (GRCm39)	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,616,601 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,399,919 (GRCm39)	V377I	probably benign	Het
Zfp592	G	T	7: 80,687,932 (GRCm39)	A953S	probably benign	Het

Other mutations in Or51k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or51k2	APN	7	103,596,204 (GRCm39)	missense	probably benign	0.03
IGL01728:Or51k2	APN	7	103,595,959 (GRCm39)	missense	probably damaging	1.00
IGL02332:Or51k2	APN	7	103,596,127 (GRCm39)	missense	probably damaging	0.98
IGL03336:Or51k2	APN	7	103,596,616 (GRCm39)	missense	probably damaging	1.00
R0611:Or51k2	UTSW	7	103,596,400 (GRCm39)	missense	probably damaging	1.00
R1341:Or51k2	UTSW	7	103,596,589 (GRCm39)	missense	possibly damaging	0.95
R1971:Or51k2	UTSW	7	103,596,150 (GRCm39)	missense	probably damaging	1.00
R2171:Or51k2	UTSW	7	103,595,992 (GRCm39)	missense	probably damaging	1.00
R4958:Or51k2	UTSW	7	103,595,808 (GRCm39)	missense	probably damaging	1.00
R6700:Or51k2	UTSW	7	103,596,531 (GRCm39)	missense	probably damaging	1.00
R7585:Or51k2	UTSW	7	103,596,607 (GRCm39)	missense	probably benign	0.01
R7640:Or51k2	UTSW	7	103,596,150 (GRCm39)	missense	probably damaging	1.00
R8330:Or51k2	UTSW	7	103,596,610 (GRCm39)	missense	possibly damaging	0.56
R8463:Or51k2	UTSW	7	103,595,834 (GRCm39)	splice site	probably null
R8489:Or51k2	UTSW	7	103,596,328 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16