Mutagenetix > Incidental Mutation

Incidental Mutation 'R4423:Or52h9'

327204

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

041143-MU

Accession Numbers

Essential gene?

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

Stock #

R4423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104202091-104203159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104202552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 142 (V142A)

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: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: V142A

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: V142A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	A	10: 100,441,495 (GRCm39)	P100Q	probably damaging	Het
A630010A05Rik	A	G	16: 14,436,577 (GRCm39)	Y210C	probably benign	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
Asgr2	G	A	11: 69,996,211 (GRCm39)	V218I	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfap144	A	T	11: 58,687,357 (GRCm39)		probably null	Het
Cnot10	T	A	9: 114,446,988 (GRCm39)	I363F	probably damaging	Het
Coch	T	A	12: 51,644,932 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,006,718 (GRCm39)	G2199D	probably benign	Het
Dock9	A	G	14: 121,799,465 (GRCm39)		probably null	Het
Dst	T	C	1: 34,227,474 (GRCm39)	I1689T	possibly damaging	Het
Eif2ak4	T	C	2: 118,269,547 (GRCm39)	F762S	probably benign	Het
Eif2b5	A	G	16: 20,320,469 (GRCm39)	D195G	probably benign	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Far1	T	A	7: 113,139,805 (GRCm39)	S84R	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Galnt15	A	T	14: 31,780,226 (GRCm39)	I508F	possibly damaging	Het
Grik1	T	C	16: 87,720,088 (GRCm39)	T745A	probably benign	Het
Hira	A	G	16: 18,774,952 (GRCm39)	D959G	possibly damaging	Het
Hsf5	T	C	11: 87,522,460 (GRCm39)	L351P	probably damaging	Het
Icosl	C	T	10: 77,907,707 (GRCm39)	T89I	possibly damaging	Het
Iws1	T	A	18: 32,216,503 (GRCm39)	N414K	probably damaging	Het
Kif1b	A	G	4: 149,298,562 (GRCm39)	S1035P	probably damaging	Het
Lcp2	G	T	11: 34,028,226 (GRCm39)		probably benign	Het
Map4	C	T	9: 109,896,662 (GRCm39)	T631I	probably damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Nin	T	A	12: 70,089,752 (GRCm39)	K1221M	probably damaging	Het
Nup155	A	G	15: 8,150,948 (GRCm39)	T333A	probably damaging	Het
Or10d4c	A	G	9: 39,558,412 (GRCm39)	Y130C	probably damaging	Het
Or8b43	A	G	9: 38,360,662 (GRCm39)	T165A	probably benign	Het
Plod2	T	C	9: 92,484,042 (GRCm39)	L502S	probably benign	Het
Pnpt1	A	G	11: 29,103,375 (GRCm39)		probably null	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkcq	T	C	2: 11,260,980 (GRCm39)	I344T	possibly damaging	Het
Rbl1	A	G	2: 157,010,875 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sec62	T	C	3: 30,868,431 (GRCm39)	M220T	unknown	Het
Shprh	T	G	10: 11,062,262 (GRCm39)	V1219G	possibly damaging	Het
Slc25a46	T	C	18: 31,742,651 (GRCm39)	T72A	probably benign	Het
Slc4a2	G	A	5: 24,644,846 (GRCm39)	W1040*	probably null	Het
Slc5a1	T	C	5: 33,312,018 (GRCm39)	V470A	possibly damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Trpm2	T	C	10: 77,770,902 (GRCm39)	D678G	probably benign	Het
Tut7	T	C	13: 59,969,863 (GRCm39)	K11E	probably damaging	Het
Ube3a	T	C	7: 58,925,861 (GRCm39)	I234T	probably benign	Het
Vmn2r57	T	C	7: 41,076,064 (GRCm39)	K483E	probably damaging	Het
Wnk1	T	A	6: 119,903,387 (GRCm39)	S2111C	probably damaging	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
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'- AGTAACCTTTGGTTTGGGTCCC -3'
(R):5'- CTGCAATCAGGATGACATCTGAG -3'

Sequencing Primer
(F):5'- GGTTTGGGTCCCAAGAAATAACCTTC -3'
(R):5'- CATCTGAGATTACAGTCATGAGCG -3'

Posted On

2015-07-07