Mutagenetix > Incidental Mutation

Incidental Mutation 'R6752:Or10ag52'

530814

Institutional Source

Beutler Lab

Gene Symbol

Or10ag52

Ensembl Gene

ENSMUSG00000070857

Gene Name

olfactory receptor family 10 subfamily AG member 52

Synonyms

GA_x6K02T2Q125-48697747-48698727, MOR264-25, Olfr1113

MMRRC Submission

044869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87043238-87044218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87043388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 51 (M51V)

Ref Sequence

ENSEMBL: ENSMUSP00000150991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079966] [ENSMUST00000215611]

AlphaFold

Q7TR54

Predicted Effect

probably benign
Transcript: ENSMUST00000079966
AA Change: M51V

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

SMART Domains

Protein: ENSMUSP00000078883
Gene: ENSMUSG00000070857
AA Change: M51V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	46	323	6.7e-53	PFAM
Pfam:7tm_1	56	305	2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215611
AA Change: M51V

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,086,309 (GRCm39)	L45S	probably benign	Het
Agbl2	G	A	2: 90,633,418 (GRCm39)	C518Y	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aox1	T	C	1: 58,086,398 (GRCm39)	I101T	probably benign	Het
Arhgap23	T	C	11: 97,343,074 (GRCm39)	F241S	probably damaging	Het
Asmt	A	G	X: 169,110,096 (GRCm39)	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,779,452 (GRCm39)	E189G	probably damaging	Het
Birc2	G	A	9: 7,857,345 (GRCm39)	A376V	probably benign	Het
Ccbe1	C	T	18: 66,209,378 (GRCm39)		probably null	Het
Chst2	C	A	9: 95,286,802 (GRCm39)	E515*	probably null	Het
Col12a1	A	T	9: 79,540,706 (GRCm39)	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,655,706 (GRCm39)	N435S	probably damaging	Het
Dnah14	A	G	1: 181,421,017 (GRCm39)	K123E	probably benign	Het
Dock4	T	A	12: 40,870,616 (GRCm39)	L1452Q	probably damaging	Het
Galnt7	G	A	8: 58,105,985 (GRCm39)	R10C	probably damaging	Het
Gm16506	A	G	14: 43,964,876 (GRCm39)	I22T	unknown	Het
H2-Q6	A	G	17: 35,647,103 (GRCm39)	T292A	probably damaging	Het
Ifne	A	G	4: 88,798,319 (GRCm39)	M33T	probably benign	Het
Igf2r	G	A	17: 12,933,831 (GRCm39)	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,903,068 (GRCm39)	E169G	probably damaging	Het
Inppl1	G	A	7: 101,481,749 (GRCm39)	R198*	probably null	Het
Irgm1	T	C	11: 48,757,290 (GRCm39)	T174A	probably damaging	Het
Itih3	C	T	14: 30,645,446 (GRCm39)	G21S	possibly damaging	Het
Klra4	G	T	6: 130,038,991 (GRCm39)	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,503,936 (GRCm39)	Y309*	probably null	Het
Mrps10	A	G	17: 47,688,740 (GRCm39)	N162S	probably damaging	Het
Mtmr14	T	C	6: 113,217,358 (GRCm39)	F90S	probably damaging	Het
Myh15	A	G	16: 49,003,290 (GRCm39)	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,119,856 (GRCm39)	E972G	probably damaging	Het
Myt1	G	T	2: 181,442,875 (GRCm39)	V455F	probably damaging	Het
Nbea	A	T	3: 55,944,640 (GRCm39)	S575T	probably benign	Het
Nbea	T	A	3: 55,875,730 (GRCm39)	T1647S	probably benign	Het
Ntn4	A	G	10: 93,570,037 (GRCm39)	N466S	probably benign	Het
Or5b114-ps1	T	A	19: 13,352,890 (GRCm39)	L188H	unknown	Het
Or5h27	T	A	16: 59,006,694 (GRCm39)	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,853,704 (GRCm39)	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pom121l2	T	G	13: 22,165,939 (GRCm39)	F70C	probably damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Rab11fip2	T	C	19: 59,895,475 (GRCm39)	D471G	probably damaging	Het
Rnh1	A	G	7: 140,743,354 (GRCm39)	V207A	probably benign	Het
Sh3tc2	C	A	18: 62,094,108 (GRCm39)	T49N	probably benign	Het
Skint4	T	C	4: 111,977,060 (GRCm39)	M158T	possibly damaging	Het
Skint7	T	A	4: 111,837,463 (GRCm39)	H80Q	probably benign	Het
Smg1	A	G	7: 117,762,539 (GRCm39)		probably benign	Het
Sostdc1	T	C	12: 36,364,411 (GRCm39)	V40A	probably benign	Het
Sptlc1	C	A	13: 53,489,394 (GRCm39)	K437N	possibly damaging	Het
Stat2	T	C	10: 128,119,622 (GRCm39)	F503L	probably damaging	Het
Syt16	A	T	12: 74,275,987 (GRCm39)		probably null	Het
Tspyl1	T	C	10: 34,158,583 (GRCm39)	S103P	probably benign	Het
Ube4a	A	T	9: 44,837,246 (GRCm39)	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,482,959 (GRCm39)	N58S	probably damaging	Het
Zfp184	C	A	13: 22,143,578 (GRCm39)	A428E	probably damaging	Het
Zfp292	A	C	4: 34,808,593 (GRCm39)	F1484V	possibly damaging	Het
Zfp599	G	A	9: 22,160,840 (GRCm39)	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,558,500 (GRCm39)	T249I	probably benign	Het
Zkscan14	T	A	5: 145,132,316 (GRCm39)	H405L	probably damaging	Het

Other mutations in Or10ag52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Or10ag52	APN	2	87,043,850 (GRCm39)	missense	probably damaging	0.96
IGL02523:Or10ag52	APN	2	87,043,664 (GRCm39)	missense	probably benign	0.26
IGL03112:Or10ag52	APN	2	87,043,944 (GRCm39)	missense	probably damaging	1.00
IGL03137:Or10ag52	APN	2	87,043,500 (GRCm39)	missense	probably benign	0.42
R0393:Or10ag52	UTSW	2	87,044,037 (GRCm39)	missense	probably benign
R1758:Or10ag52	UTSW	2	87,043,758 (GRCm39)	missense	probably benign	0.13
R1920:Or10ag52	UTSW	2	87,043,721 (GRCm39)	missense	probably benign	0.09
R1992:Or10ag52	UTSW	2	87,043,588 (GRCm39)	nonsense	probably null
R3742:Or10ag52	UTSW	2	87,043,340 (GRCm39)	missense	probably benign	0.00
R5615:Or10ag52	UTSW	2	87,044,083 (GRCm39)	missense	probably benign	0.00
R5665:Or10ag52	UTSW	2	87,044,072 (GRCm39)	missense	probably benign	0.05
R5749:Or10ag52	UTSW	2	87,043,287 (GRCm39)	missense	probably benign
R7986:Or10ag52	UTSW	2	87,043,922 (GRCm39)	missense	probably benign	0.12
R8161:Or10ag52	UTSW	2	87,044,148 (GRCm39)	missense	probably damaging	0.96
R8283:Or10ag52	UTSW	2	87,043,683 (GRCm39)	missense	probably benign	0.04
R9185:Or10ag52	UTSW	2	87,044,174 (GRCm39)	missense	probably benign	0.01
Z1088:Or10ag52	UTSW	2	87,044,122 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AGACTGAAACACAATCCCAATTTGG -3'
(R):5'- GAGGAAGCATTCAGTAGCCC -3'

Sequencing Primer
(F):5'- CACAATCCCAATTTGGTTTAAGAAG -3'
(R):5'- CACATTTGTGTAGCACAGGC -3'

Posted On

2018-08-01