Mutagenetix > Incidental Mutation

Incidental Mutation 'R9053:Or4a76'

688494

Institutional Source

Beutler Lab

Gene Symbol

Or4a76

Ensembl Gene

ENSMUSG00000075079

Gene Name

olfactory receptor family 4 subfamily A member 76

Synonyms

Olfr1249, GA_x6K02T2Q125-51072323-51071367, MOR231-16P, Olfr1541-ps1, MOR231-17P, MOR231-25_p, MOR231-16P

MMRRC Submission

068879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R9053 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89460284-89461240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89461161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000149072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099769] [ENSMUST00000216124]

AlphaFold

L7MU51

Predicted Effect

probably benign
Transcript: ENSMUST00000099769
AA Change: V27A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.9e-47	PFAM
Pfam:7tm_1	39	285	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216124
AA Change: V27A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (50/52)

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
Acat3	A	G	17: 13,147,402 (GRCm39)	V205A	probably damaging	Het
Acp7	A	G	7: 28,316,616 (GRCm39)	F120L	possibly damaging	Het
Adh4	T	C	3: 138,128,045 (GRCm39)	V157A	probably damaging	Het
Ahsa2	T	C	11: 23,443,314 (GRCm39)	E146G	probably benign	Het
Ank3	T	C	10: 69,822,389 (GRCm39)	S353P		Het
Apob	T	C	12: 8,058,954 (GRCm39)	S2479P	possibly damaging	Het
Arhgef37	A	G	18: 61,641,760 (GRCm39)	L203P	probably damaging	Het
Arpp21	T	A	9: 111,984,583 (GRCm39)	N265I	possibly damaging	Het
Cfap20dc	T	C	14: 8,518,768 (GRCm38)		probably null	Het
Dagla	G	A	19: 10,246,615 (GRCm39)	R162C	probably damaging	Het
Ddx18	T	C	1: 121,489,135 (GRCm39)	D304G	probably damaging	Het
Dnah3	A	T	7: 119,618,987 (GRCm39)	L1638Q	possibly damaging	Het
Dnah6	T	A	6: 73,061,640 (GRCm39)	N2815I	possibly damaging	Het
Dnajc16	T	C	4: 141,510,371 (GRCm39)	D94G	probably benign	Het
Epor	G	T	9: 21,870,655 (GRCm39)	D408E	probably benign	Het
Erbb4	T	C	1: 68,289,779 (GRCm39)	N754S	possibly damaging	Het
Etaa1	A	G	11: 17,895,798 (GRCm39)	I773T	probably benign	Het
Fat4	T	A	3: 38,941,324 (GRCm39)	Y72*	probably null	Het
Fbxw18	T	G	9: 109,517,491 (GRCm39)	D404A	probably benign	Het
Flot1	T	A	17: 36,140,859 (GRCm39)	V283E	probably damaging	Het
Gm5145	G	T	17: 20,791,194 (GRCm39)	G191W	probably damaging	Het
Gpr161	G	A	1: 165,134,166 (GRCm39)		probably benign	Het
Helz	C	A	11: 107,563,761 (GRCm39)	Q1734K	unknown	Het
Hycc1	A	G	5: 24,184,579 (GRCm39)	C300R	possibly damaging	Het
Ints1	A	G	5: 139,747,822 (GRCm39)	V1195A	possibly damaging	Het
Khdc4	T	A	3: 88,596,582 (GRCm39)	L121Q	probably damaging	Het
Kmt2a	T	A	9: 44,732,716 (GRCm39)	T2534S	unknown	Het
Lingo3	T	C	10: 80,670,821 (GRCm39)	N370D	probably benign	Het
Lrp1b	A	G	2: 40,748,501 (GRCm39)	V3113A		Het
Mthfs	C	T	9: 89,097,454 (GRCm39)	L104F	probably damaging	Het
Nlgn1	A	T	3: 25,488,607 (GRCm39)	V576D	probably damaging	Het
Nlrc5	A	G	8: 95,217,013 (GRCm39)	R1001G	probably benign	Het
Obscn	C	T	11: 58,972,636 (GRCm39)	A2137T	probably benign	Het
Ociad1	T	A	5: 73,460,951 (GRCm39)	H70Q	probably damaging	Het
Opa1	T	A	16: 29,404,836 (GRCm39)	C11*	probably null	Het
Parp10	T	C	15: 76,125,964 (GRCm39)	E408G	possibly damaging	Het
Pcdhb19	G	A	18: 37,631,143 (GRCm39)	E313K	probably benign	Het
Pmel	G	T	10: 128,551,918 (GRCm39)	A251S	probably benign	Het
Polr3d	G	T	14: 70,678,153 (GRCm39)	P181T	probably damaging	Het
Prmt3	A	T	7: 49,430,104 (GRCm39)	H69L	probably damaging	Het
Rc3h2	A	T	2: 37,289,628 (GRCm39)	Y395N	possibly damaging	Het
Rubcnl	A	T	14: 75,269,717 (GRCm39)	N125I	possibly damaging	Het
Shprh	T	C	10: 11,030,446 (GRCm39)	F221S	probably benign	Het
Skint5	A	T	4: 113,403,684 (GRCm39)	S1179R	unknown	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc44a3	T	C	3: 121,320,839 (GRCm39)	Y54C	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Spag5	A	T	11: 78,212,575 (GRCm39)	I1137F	probably benign	Het
Tchp	A	T	5: 114,853,916 (GRCm39)	Y277F	probably benign	Het
Tdrd12	A	C	7: 35,204,468 (GRCm39)	L267W	probably damaging	Het
Tfcp2	A	T	15: 100,396,092 (GRCm39)	I107N		Het
Vmn1r9	T	C	6: 57,048,513 (GRCm39)	V196A	probably benign	Het
Vmn2r62	T	A	7: 42,413,920 (GRCm39)	D841V		Het
Zzef1	G	T	11: 72,813,302 (GRCm39)	R2901L	probably benign	Het

Other mutations in Or4a76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or4a76	APN	2	89,460,964 (GRCm39)	nonsense	probably null
IGL02127:Or4a76	APN	2	89,461,098 (GRCm39)	missense	probably damaging	0.97
IGL02555:Or4a76	APN	2	89,460,547 (GRCm39)	missense	probably damaging	0.99
IGL02645:Or4a76	APN	2	89,460,679 (GRCm39)	missense	probably benign	0.05
IGL03112:Or4a76	APN	2	89,460,678 (GRCm39)	missense	probably benign	0.11
BB008:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
BB018:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R1460:Or4a76	UTSW	2	89,460,282 (GRCm39)	splice site	probably null
R1496:Or4a76	UTSW	2	89,460,358 (GRCm39)	missense	possibly damaging	0.96
R4634:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4635:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4636:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R5668:Or4a76	UTSW	2	89,460,688 (GRCm39)	missense	probably damaging	1.00
R5787:Or4a76	UTSW	2	89,461,018 (GRCm39)	missense	probably benign	0.05
R5888:Or4a76	UTSW	2	89,461,143 (GRCm39)	missense	probably damaging	0.99
R6267:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R6296:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R7324:Or4a76	UTSW	2	89,460,447 (GRCm39)	missense	possibly damaging	0.78
R7421:Or4a76	UTSW	2	89,460,915 (GRCm39)	missense	probably damaging	0.98
R7459:Or4a76	UTSW	2	89,461,012 (GRCm39)	missense	probably damaging	1.00
R7931:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R8129:Or4a76	UTSW	2	89,460,792 (GRCm39)	missense	probably damaging	1.00
R8239:Or4a76	UTSW	2	89,460,907 (GRCm39)	missense	probably damaging	0.97
R9339:Or4a76	UTSW	2	89,460,555 (GRCm39)	missense	probably damaging	1.00
R9408:Or4a76	UTSW	2	89,460,388 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGCAGAATGACAATGTC -3'
(R):5'- GCTCAATGACAGAATGGACTCATG -3'

Sequencing Primer
(F):5'- GGTCTTTTTCTCACAGAGCAAG -3'
(R):5'- TGACAGAATGGACTCATGATCCTG -3'

Posted On

2021-11-19