Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Or52h9'

263976

Institutional Source

Beutler Lab

Gene Symbol

Or52h9

Ensembl Gene

ENSMUSG00000073928

Gene Name

olfactory receptor family 52 subfamily H member 9

Synonyms

GA_x6K02T2PBJ9-7179540-7180481, Olfr651, MOR31-11

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

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

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104202091-104203159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104202295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 56 (H56Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150776 (fasta)

Gene Model

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

AlphaFold

Q8VG78

Predicted Effect

probably benign
Transcript: ENSMUST00000098176
AA Change: H56Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: H56Q

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 benign
Transcript: ENSMUST00000216904
AA Change: H56Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

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
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	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
IGL02625:Or52h9	APN	7	104,202,780 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGCTCAAGAACCAGCAG -3'
(R):5'- CATAGCGATCAAAAGCCATGGC -3'

Sequencing Primer
(F):5'- GCAGATACCACAGAGGCCATG -3'
(R):5'- GCCATGGCTAACAGGATAGC -3'

Posted On

2015-02-05