Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Or51v8'

373716

Institutional Source

Beutler Lab

Gene Symbol

Or51v8

Ensembl Gene

ENSMUSG00000045780

Gene Name

olfactory receptor family 51 subfamily V member 8

Synonyms

Olfr624, MOR4-2P, GA_x6K02T2PBJ9-6394126-6393197

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103319310-103320236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103320010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 76 (T76K)

Ref Sequence

ENSEMBL: ENSMUSP00000049938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062144]

AlphaFold

F8VQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062144
AA Change: T76K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049938
Gene: ENSMUSG00000045780
AA Change: T76K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	27	306	3.3e-138	PFAM
Pfam:7tm_1	37	288	1.8e-19	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	Het

Other mutations in Or51v8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:Or51v8	APN	7	103,319,682 (GRCm39)	nonsense	probably null
IGL02536:Or51v8	APN	7	103,320,164 (GRCm39)	missense	possibly damaging	0.78
IGL02684:Or51v8	APN	7	103,319,591 (GRCm39)	missense	probably benign	0.06
FR4548:Or51v8	UTSW	7	103,320,174 (GRCm39)	nonsense	probably null
FR4548:Or51v8	UTSW	7	103,320,167 (GRCm39)	small insertion	probably benign
FR4976:Or51v8	UTSW	7	103,320,173 (GRCm39)	small insertion	probably benign
R0295:Or51v8	UTSW	7	103,319,518 (GRCm39)	missense	probably damaging	1.00
R0518:Or51v8	UTSW	7	103,319,696 (GRCm39)	missense	possibly damaging	0.56
R0521:Or51v8	UTSW	7	103,319,696 (GRCm39)	missense	possibly damaging	0.56
R1352:Or51v8	UTSW	7	103,319,518 (GRCm39)	missense	probably damaging	1.00
R1779:Or51v8	UTSW	7	103,319,845 (GRCm39)	missense	probably benign	0.15
R1878:Or51v8	UTSW	7	103,319,389 (GRCm39)	missense	probably damaging	1.00
R1965:Or51v8	UTSW	7	103,320,103 (GRCm39)	missense	probably damaging	1.00
R2162:Or51v8	UTSW	7	103,320,079 (GRCm39)	missense	possibly damaging	0.95
R2316:Or51v8	UTSW	7	103,319,674 (GRCm39)	missense	probably damaging	0.97
R3792:Or51v8	UTSW	7	103,319,353 (GRCm39)	missense	probably damaging	1.00
R3848:Or51v8	UTSW	7	103,319,908 (GRCm39)	missense	probably damaging	0.99
R4120:Or51v8	UTSW	7	103,320,221 (GRCm39)	missense	probably benign
R4183:Or51v8	UTSW	7	103,320,178 (GRCm39)	missense	possibly damaging	0.87
R6351:Or51v8	UTSW	7	103,320,163 (GRCm39)	missense	possibly damaging	0.50
R7717:Or51v8	UTSW	7	103,320,152 (GRCm39)	missense	probably benign
R9091:Or51v8	UTSW	7	103,320,124 (GRCm39)	missense	probably damaging	1.00
R9270:Or51v8	UTSW	7	103,320,124 (GRCm39)	missense	probably damaging	1.00
R9273:Or51v8	UTSW	7	103,319,633 (GRCm39)	missense	probably benign	0.03
R9378:Or51v8	UTSW	7	103,319,389 (GRCm39)	missense	probably damaging	1.00
X0026:Or51v8	UTSW	7	103,319,602 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGCCACTCCGATTTTCAG -3'
(R):5'- TTACTGGATTTCCTGGCCTG -3'

Sequencing Primer
(F):5'- GGCCACTCCGATTTTCAGGATTC -3'
(R):5'- GATTTCCTGGCCTGGAAGTCTAC -3'

Posted On

2016-03-01