Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Or52h9'

401701

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

042858-MU

Accession Numbers

Essential gene?

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

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104202091-104203159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104203026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 300 (Q300L)

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: Q300L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: Q300L

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: Q300L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	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
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
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'- CAAAAGGCCTTGAGCACATG -3'
(R):5'- GTTCAACAAAAGAAGCCGTGATTTC -3'

Sequencing Primer
(F):5'- GAGCACATGTGGTTCCCATATCTG -3'
(R):5'- AGAAGCCGTGATTTCCCCAGAG -3'

Posted On

2016-07-06