Mutagenetix > Incidental Mutation

Incidental Mutation 'R3737:Or8b4'

270173

Institutional Source

Beutler Lab

Gene Symbol

Or8b4

Ensembl Gene

ENSMUSG00000066747

Gene Name

olfactory receptor family 8 subfamily B member 4

Synonyms

MOR163-1, GA_x6K02T2PVTD-31600511-31601440, Olfr878

MMRRC Submission

040724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R3737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37829844-37830908 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 37829937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086061] [ENSMUST00000212878] [ENSMUST00000214263] [ENSMUST00000216723]

AlphaFold

Q9EQA9

Predicted Effect

probably benign
Transcript: ENSMUST00000086061

SMART Domains

Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	312	1.4e-46	PFAM
Pfam:7tm_1	46	294	5.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212878

Predicted Effect

probably benign
Transcript: ENSMUST00000214263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214813

Predicted Effect

probably benign
Transcript: ENSMUST00000216723

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Arap1	A	T	7: 101,049,484 (GRCm39)	Y982F	possibly damaging	Het
Bicral	A	T	17: 47,136,836 (GRCm39)	Y125N	probably damaging	Het
Brd2	A	G	17: 34,336,054 (GRCm39)	L53S	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Clca3a1	A	G	3: 144,436,482 (GRCm39)	V867A	probably benign	Het
Dchs1	T	A	7: 105,411,523 (GRCm39)	D1531V	possibly damaging	Het
Dnah9	G	A	11: 66,047,734 (GRCm39)	Q29*	probably null	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Fgfbp1	T	C	5: 44,136,938 (GRCm39)	Y118C	probably damaging	Het
Gal3st2c	A	G	1: 93,937,050 (GRCm39)	I332V	possibly damaging	Het
Gprc6a	A	C	10: 51,503,007 (GRCm39)	N285K	probably benign	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Il36rn	T	C	2: 24,171,215 (GRCm39)	F101S	probably damaging	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Kctd9	G	A	14: 67,971,737 (GRCm39)	D157N	possibly damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Mon2	A	G	10: 122,849,280 (GRCm39)	L1340P	probably damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	C	CAGT	19: 46,069,816 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGTAG	19: 46,069,792 (GRCm39)		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,069,809 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Pcm1	T	A	8: 41,714,080 (GRCm39)	Y215*	probably null	Het
Pde6c	T	A	19: 38,128,672 (GRCm39)	V212D	probably damaging	Het
Ppl	T	C	16: 4,924,721 (GRCm39)	T115A	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
R3hcc1	C	T	14: 69,935,042 (GRCm39)	R262Q	probably benign	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Ska3	A	T	14: 58,049,053 (GRCm39)	M306K	probably benign	Het
Spesp1	T	A	9: 62,180,318 (GRCm39)	I197L	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tprg1l	T	C	4: 154,244,585 (GRCm39)	I137V	probably benign	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ube2j1	A	T	4: 33,036,723 (GRCm39)	M16L	probably benign	Het
Ubr3	G	A	2: 69,801,578 (GRCm39)		probably null	Het
Usp42	C	T	5: 143,701,194 (GRCm39)	S943N	probably benign	Het
Usp49	G	A	17: 47,983,243 (GRCm39)	V83M	probably damaging	Het
Usp6nl	C	A	2: 6,445,728 (GRCm39)	N568K	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Vmn1r55	T	G	7: 5,150,195 (GRCm39)	D76A	probably damaging	Het
Xrcc6	T	C	15: 81,913,832 (GRCm39)	Y53H	probably damaging	Het
Zbtb7c	T	G	18: 76,270,011 (GRCm39)	L33R	probably damaging	Het

Other mutations in Or8b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Or8b4	APN	9	37,830,346 (GRCm39)	missense	probably damaging	1.00
IGL01354:Or8b4	APN	9	37,830,840 (GRCm39)	missense	possibly damaging	0.74
R0399:Or8b4	UTSW	9	37,830,849 (GRCm39)	missense	possibly damaging	0.85
R1537:Or8b4	UTSW	9	37,830,570 (GRCm39)	missense	probably benign	0.24
R4035:Or8b4	UTSW	9	37,829,937 (GRCm39)	splice site	probably benign
R4675:Or8b4	UTSW	9	37,830,882 (GRCm39)	makesense	probably null
R4700:Or8b4	UTSW	9	37,830,217 (GRCm39)	missense	possibly damaging	0.77
R5719:Or8b4	UTSW	9	37,830,647 (GRCm39)	missense	probably damaging	1.00
R5824:Or8b4	UTSW	9	37,830,861 (GRCm39)	missense	probably benign	0.00
R5940:Or8b4	UTSW	9	37,830,733 (GRCm39)	missense	probably damaging	1.00
R6116:Or8b4	UTSW	9	37,829,955 (GRCm39)	start codon destroyed	probably null	0.94
R6705:Or8b4	UTSW	9	37,830,080 (GRCm39)	missense	probably damaging	1.00
R7075:Or8b4	UTSW	9	37,830,370 (GRCm39)	missense	probably benign	0.09
R7470:Or8b4	UTSW	9	37,830,592 (GRCm39)	missense	probably damaging	1.00
R8057:Or8b4	UTSW	9	37,830,460 (GRCm39)	missense	probably benign	0.00
R9102:Or8b4	UTSW	9	37,829,992 (GRCm39)	missense	probably damaging	1.00
R9204:Or8b4	UTSW	9	37,830,670 (GRCm39)	missense	probably damaging	1.00
R9254:Or8b4	UTSW	9	37,830,447 (GRCm39)	missense	probably damaging	1.00
R9379:Or8b4	UTSW	9	37,830,447 (GRCm39)	missense	probably damaging	1.00
R9504:Or8b4	UTSW	9	37,830,163 (GRCm39)	missense	probably damaging	1.00
R9711:Or8b4	UTSW	9	37,830,066 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGAACAGAATCCTTGTTATCC -3'
(R):5'- ACCCAATTAAGGTGATCAGTCC -3'

Sequencing Primer
(F):5'- GTCCATGGGAAATGAGCTATGCTC -3'
(R):5'- GGTGATCAGTCCCAAATTGC -3'

Posted On

2015-03-18