Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Or52n3'

672988

Institutional Source

Beutler Lab

Gene Symbol

Or52n3

Ensembl Gene

ENSMUSG00000073917

Gene Name

olfactory receptor family 52 subfamily N member 3

Synonyms

MOR34-7, Olfr665, GA_x6K02T2PBJ9-7509539-7510489

MMRRC Submission

068653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104529916-104530866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104530862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 316 (V316D)

Ref Sequence

ENSEMBL: ENSMUSP00000150603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098165] [ENSMUST00000215761] [ENSMUST00000216257] [ENSMUST00000216971]

AlphaFold

Q8VG79

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098165
AA Change: V316D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095768
Gene: ENSMUSG00000073917
AA Change: V316D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	6.4e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1e-5	PFAM
Pfam:7tm_1	43	295	1.4e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215761
AA Change: V316D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216257
AA Change: V316D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216971
AA Change: V316D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Abcb1a	A	T	5: 8,773,204 (GRCm39)	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Cdyl	T	C	13: 36,042,174 (GRCm39)	I404T	probably damaging	Het
Cemip2	G	A	19: 21,784,818 (GRCm39)	V434M	probably damaging	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Fbxw17	A	T	13: 50,587,351 (GRCm39)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247 (GRCm39)	V110M	unknown	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Il36b	C	T	2: 24,049,892 (GRCm39)	Q168*	probably null	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or1j10	T	C	2: 36,267,006 (GRCm39)	S73P	probably damaging	Het
Or1n1b	C	A	2: 36,780,622 (GRCm39)	M79I	probably benign	Het
Or6e1	C	T	14: 54,520,070 (GRCm39)	G94D	probably benign	Het
Orc2	T	C	1: 58,515,639 (GRCm39)	N290D	probably benign	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,606,971 (GRCm39)	S68T	probably benign	Het
Pcnx1	T	A	12: 82,020,022 (GRCm39)	H715Q		Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Proz	T	A	8: 13,113,253 (GRCm39)	F25I	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Smyd2	T	A	1: 189,632,018 (GRCm39)	K115N	probably benign	Het
Tenm3	T	G	8: 48,763,759 (GRCm39)	D765A	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,967,531 (GRCm39)	R176*	probably null	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	Het

Other mutations in Or52n3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Or52n3	APN	7	104,530,724 (GRCm39)	missense	probably benign	0.01
IGL01408:Or52n3	APN	7	104,530,037 (GRCm39)	missense	probably benign	0.02
IGL02022:Or52n3	APN	7	104,530,141 (GRCm39)	missense	probably damaging	1.00
R0349:Or52n3	UTSW	7	104,530,199 (GRCm39)	missense	possibly damaging	0.48
R0585:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R1518:Or52n3	UTSW	7	104,530,515 (GRCm39)	nonsense	probably null
R1659:Or52n3	UTSW	7	104,530,387 (GRCm39)	missense	probably benign	0.00
R1727:Or52n3	UTSW	7	104,530,721 (GRCm39)	missense	probably benign	0.11
R1762:Or52n3	UTSW	7	104,530,447 (GRCm39)	missense	probably damaging	0.99
R4052:Or52n3	UTSW	7	104,530,810 (GRCm39)	missense	probably damaging	0.99
R4208:Or52n3	UTSW	7	104,530,810 (GRCm39)	missense	probably damaging	0.99
R5486:Or52n3	UTSW	7	104,530,168 (GRCm39)	missense	probably benign	0.02
R5513:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R6148:Or52n3	UTSW	7	104,530,289 (GRCm39)	missense	possibly damaging	0.84
R6593:Or52n3	UTSW	7	104,530,640 (GRCm39)	missense	probably damaging	1.00
R7143:Or52n3	UTSW	7	104,530,393 (GRCm39)	missense	probably damaging	1.00
R7189:Or52n3	UTSW	7	104,530,348 (GRCm39)	nonsense	probably null
R7413:Or52n3	UTSW	7	104,530,057 (GRCm39)	missense	probably benign	0.07
R8690:Or52n3	UTSW	7	104,530,762 (GRCm39)	missense	probably damaging	1.00
R8819:Or52n3	UTSW	7	104,530,862 (GRCm39)	missense	possibly damaging	0.90
R9430:Or52n3	UTSW	7	104,530,204 (GRCm39)	missense	possibly damaging	0.92
R9464:Or52n3	UTSW	7	104,530,050 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCCTTCAGTACCTGTACATCAC -3'
(R):5'- TCCATGAGCTCCAAGACAGC -3'

Sequencing Primer
(F):5'- GTACCTGTACATCACACATATGTGC -3'
(R):5'- CAAGACAGCTATATTAGACTCATGC -3'

Posted On

2021-04-30