Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Or52h9'

301021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52h9

Ensembl Gene

ENSMUSG00000073928

Gene Name

olfactory receptor family 52 subfamily H member 9

Synonyms

GA_x6K02T2PBJ9-7179540-7180481, Olfr651, MOR31-11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

104202091-104203159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104202780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 218 (Y218C)

Ref Sequence

ENSEMBL: ENSMUSP00000150776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098176] [ENSMUST00000216904]

AlphaFold

Q8VG78

Predicted Effect

probably damaging
Transcript: ENSMUST00000098176
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: Y218C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	4.1e-104	PFAM
Pfam:7TM_GPCR_Srsx	35	303	1e-10	PFAM
Pfam:7tm_1	41	292	4.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216246

Predicted Effect

probably damaging
Transcript: ENSMUST00000216904
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
Alg6	T	A	4: 99,634,584 (GRCm39)	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,471,039 (GRCm39)	E53D	probably benign	Het
Ccr4	A	C	9: 114,321,401 (GRCm39)	C221W	probably damaging	Het
Ces2a	G	A	8: 105,466,910 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,796,709 (GRCm39)	E552*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dock2	A	G	11: 34,451,168 (GRCm39)		probably null	Het
Esr1	A	T	10: 4,951,346 (GRCm39)	T575S	probably benign	Het
Fancc	A	G	13: 63,545,965 (GRCm39)	C93R	probably damaging	Het
Foxj3	A	T	4: 119,482,114 (GRCm39)	R523W	unknown	Het
Fryl	C	T	5: 73,227,220 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,779,836 (GRCm39)	H194P	probably benign	Het
Gaa	G	A	11: 119,165,559 (GRCm39)	V350I	probably damaging	Het
Gpn3	T	A	5: 122,519,257 (GRCm39)	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,678,417 (GRCm39)	H136L	probably benign	Het
H4c16	C	T	6: 136,781,335 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,239,953 (GRCm39)	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422 (GRCm39)	E728G	probably benign	Het
Kat14	G	A	2: 144,244,365 (GRCm39)	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,413,900 (GRCm39)	D863E	probably damaging	Het
Lrp1	A	G	10: 127,410,355 (GRCm39)	Y1464H	probably damaging	Het
Map4	T	C	9: 109,893,485 (GRCm39)	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,347,085 (GRCm39)	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,503,413 (GRCm39)	I506M	probably benign	Het
Nudt17	G	A	3: 96,613,780 (GRCm39)	R266W	probably damaging	Het
Or4a47	A	G	2: 89,665,740 (GRCm39)	L183P	probably damaging	Het
Or4a69	A	G	2: 89,313,018 (GRCm39)	S154P	probably damaging	Het
Plcb4	A	G	2: 135,803,714 (GRCm39)	E529G	probably benign	Het
Prss32	A	T	17: 24,075,210 (GRCm39)	I187F	possibly damaging	Het
Prss55	A	T	14: 64,316,818 (GRCm39)	I108K	probably damaging	Het
Rcl1	A	G	19: 29,095,741 (GRCm39)	M109V	probably benign	Het
Rho	A	T	6: 115,912,158 (GRCm39)	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,012,611 (GRCm39)	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,309,330 (GRCm39)		probably null	Het
Stx11	T	A	10: 12,817,661 (GRCm39)	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807 (GRCm39)	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,974,972 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,830,039 (GRCm39)	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,206,407 (GRCm39)	M296T	probably damaging	Het
Trim13	T	A	14: 61,842,999 (GRCm39)	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,023,239 (GRCm39)	K133E	possibly damaging	Het
Usp40	A	G	1: 87,877,739 (GRCm39)	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,288,781 (GRCm39)	N240T	probably damaging	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr6	T	C	9: 108,452,704 (GRCm39)	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,183,609 (GRCm39)		probably benign	Het

Other mutations in Or52h9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Or52h9	APN	7	104,202,299 (GRCm39)	missense	probably benign	0.18
IGL01120:Or52h9	APN	7	104,202,552 (GRCm39)	missense	probably benign
IGL01325:Or52h9	APN	7	104,202,896 (GRCm39)	missense	probably damaging	1.00
IGL01590:Or52h9	APN	7	104,202,782 (GRCm39)	missense	probably benign	0.00
IGL02685:Or52h9	APN	7	104,202,357 (GRCm39)	missense	probably benign	0.35
P0157:Or52h9	UTSW	7	104,202,714 (GRCm39)	missense	probably damaging	1.00
R0087:Or52h9	UTSW	7	104,202,869 (GRCm39)	missense	possibly damaging	0.73
R0399:Or52h9	UTSW	7	104,202,576 (GRCm39)	missense	probably benign	0.05
R0547:Or52h9	UTSW	7	104,202,563 (GRCm39)	missense	probably benign	0.01
R0630:Or52h9	UTSW	7	104,202,998 (GRCm39)	missense	probably benign	0.27
R1014:Or52h9	UTSW	7	104,202,383 (GRCm39)	missense	probably damaging	1.00
R1127:Or52h9	UTSW	7	104,202,293 (GRCm39)	missense	possibly damaging	0.94
R1724:Or52h9	UTSW	7	104,202,435 (GRCm39)	missense	probably damaging	1.00
R2473:Or52h9	UTSW	7	104,202,146 (GRCm39)	missense	possibly damaging	0.93
R3115:Or52h9	UTSW	7	104,202,295 (GRCm39)	missense	probably benign	0.13
R3116:Or52h9	UTSW	7	104,202,295 (GRCm39)	missense	probably benign	0.13
R3834:Or52h9	UTSW	7	104,202,552 (GRCm39)	missense	probably benign	0.43
R4027:Or52h9	UTSW	7	104,202,530 (GRCm39)	missense	possibly damaging	0.90
R4423:Or52h9	UTSW	7	104,202,552 (GRCm39)	missense	probably benign
R4907:Or52h9	UTSW	7	104,202,518 (GRCm39)	missense	probably damaging	0.97
R4984:Or52h9	UTSW	7	104,202,228 (GRCm39)	missense	probably benign	0.38
R5266:Or52h9	UTSW	7	104,203,026 (GRCm39)	missense	probably benign	0.00
R5592:Or52h9	UTSW	7	104,202,938 (GRCm39)	missense	probably benign	0.28
R6441:Or52h9	UTSW	7	104,202,542 (GRCm39)	nonsense	probably null
R7463:Or52h9	UTSW	7	104,202,689 (GRCm39)	missense	possibly damaging	0.88
R7647:Or52h9	UTSW	7	104,202,893 (GRCm39)	missense	probably benign	0.00
R8276:Or52h9	UTSW	7	104,202,522 (GRCm39)	missense	probably damaging	1.00
R9752:Or52h9	UTSW	7	104,202,530 (GRCm39)	missense	possibly damaging	0.90
X0067:Or52h9	UTSW	7	104,202,594 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16