Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Or8a1b'

688575

Institutional Source

Beutler Lab

Gene Symbol

Or8a1b

Ensembl Gene

ENSMUSG00000061165

Gene Name

olfactory receptor family 8 subfamily A member 1B

Synonyms

MOR171-3, M72, GA_x6K02T2PVTD-31389446-31388517, MOR171-3, Olfr160

MMRRC Submission

068880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37622644-37623576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37623204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 124 (V124M)

Ref Sequence

ENSEMBL: ENSMUSP00000148600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104875] [ENSMUST00000211952] [ENSMUST00000215727]

AlphaFold

Q8VGE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000104875
AA Change: V124M

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

SMART Domains

Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: V124M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.5e-48	PFAM
Pfam:7tm_1	41	290	6.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211952
AA Change: V124M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215727
AA Change: V124M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

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]
PHENOTYPE: Mice homozygous for a reporter allele respond heterogeneously to odorants and display abnormal innervation of glomeruli by olfactory sensory axons in the olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,395,594 (GRCm39)	D641E	probably benign	Het
Anln	A	G	9: 22,272,116 (GRCm39)		probably null	Het
Areg	A	T	5: 91,292,217 (GRCm39)	E172D	probably damaging	Het
Ccdc51	A	T	9: 108,918,482 (GRCm39)	T24S	probably benign	Het
Cckar	A	T	5: 53,860,424 (GRCm39)	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,313,821 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,235,551 (GRCm39)	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,664,562 (GRCm39)	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,919,249 (GRCm39)	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,853,253 (GRCm39)	I406F	probably benign	Het
Eml4	T	A	17: 83,734,640 (GRCm39)		probably benign	Het
Fkrp	G	T	7: 16,544,569 (GRCm39)	T431K	probably damaging	Het
Fsip2	A	T	2: 82,806,180 (GRCm39)	Y833F	possibly damaging	Het
Galnt2	T	C	8: 125,058,837 (GRCm39)		probably null	Het
Gm8180	T	A	14: 44,019,806 (GRCm39)		probably null	Het
Hcn1	T	C	13: 118,108,171 (GRCm39)	S552P	unknown	Het
Ifit1	A	C	19: 34,625,887 (GRCm39)	E341A	possibly damaging	Het
Iyd	A	G	10: 3,490,250 (GRCm39)		probably benign	Het
Krt72	A	T	15: 101,694,836 (GRCm39)	S20T	probably damaging	Het
Lemd2	G	T	17: 27,423,069 (GRCm39)	D108E	probably benign	Het
Lipn	A	T	19: 34,054,376 (GRCm39)	I205F	possibly damaging	Het
Nat1	G	T	8: 67,943,723 (GRCm39)	R36L	probably benign	Het
Nebl	A	T	2: 17,415,907 (GRCm39)	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,214,351 (GRCm39)	N502I	probably damaging	Het
Nrp1	G	A	8: 129,214,389 (GRCm39)	V626I	probably benign	Het
Oprm1	G	A	10: 6,773,914 (GRCm39)		probably benign	Het
Or52w1	A	G	7: 105,017,680 (GRCm39)	Y49C	probably damaging	Het
Pde2a	A	G	7: 101,156,927 (GRCm39)	Y637C	probably damaging	Het
Pde4d	T	C	13: 110,071,924 (GRCm39)	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,269,498 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,947,017 (GRCm39)	D810V	probably damaging	Het
Pkd1l3	A	T	8: 110,392,304 (GRCm39)	H1966L	probably benign	Het
Pmfbp1	C	T	8: 110,247,661 (GRCm39)	T319I	possibly damaging	Het
Pramel28	T	C	4: 143,692,314 (GRCm39)	Q229R	probably benign	Het
Prb1c	G	C	6: 132,338,856 (GRCm39)	Q121E	unknown	Het
Psg18	T	A	7: 18,087,450 (GRCm39)	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638 (GRCm38)	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,290,984 (GRCm39)	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,293,542 (GRCm39)	T105A	probably benign	Het
Rbm12	A	T	2: 155,937,481 (GRCm39)	D930E	unknown	Het
Rlf	A	C	4: 121,007,784 (GRCm39)	S509A	possibly damaging	Het
Slc39a3	C	A	10: 80,869,499 (GRCm39)	G53C	probably damaging	Het
Smchd1	G	A	17: 71,670,017 (GRCm39)	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,247,715 (GRCm39)	E52A	unknown	Het
Stat1	A	G	1: 52,182,086 (GRCm39)	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,592,923 (GRCm39)	E64G	probably benign	Het
Ttll11	A	T	2: 35,869,392 (GRCm39)	V82D	probably benign	Het
Ttn	T	A	2: 76,570,977 (GRCm39)	T26639S	probably damaging	Het
Usp53	A	T	3: 122,727,725 (GRCm39)	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,567,724 (GRCm39)	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,537 (GRCm39)	D166N	probably damaging	Het
Zfp954	C	A	7: 7,119,097 (GRCm39)	C149F	probably benign	Het

Other mutations in Or8a1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Or8a1b	APN	9	37,623,132 (GRCm39)	missense	probably damaging	0.98
IGL02195:Or8a1b	APN	9	37,623,417 (GRCm39)	missense	probably benign
R0099:Or8a1b	UTSW	9	37,622,750 (GRCm39)	missense	probably damaging	0.99
R0124:Or8a1b	UTSW	9	37,622,759 (GRCm39)	missense	possibly damaging	0.79
R0129:Or8a1b	UTSW	9	37,623,236 (GRCm39)	missense	probably damaging	1.00
R0882:Or8a1b	UTSW	9	37,623,168 (GRCm39)	missense	probably benign	0.02
R1855:Or8a1b	UTSW	9	37,623,266 (GRCm39)	missense	possibly damaging	0.92
R1988:Or8a1b	UTSW	9	37,622,993 (GRCm39)	missense	possibly damaging	0.50
R2346:Or8a1b	UTSW	9	37,622,661 (GRCm39)	missense	possibly damaging	0.50
R4164:Or8a1b	UTSW	9	37,622,994 (GRCm39)	missense	probably benign	0.03
R4274:Or8a1b	UTSW	9	37,623,364 (GRCm39)	missense	probably damaging	1.00
R4504:Or8a1b	UTSW	9	37,622,760 (GRCm39)	missense	probably benign	0.03
R4505:Or8a1b	UTSW	9	37,622,760 (GRCm39)	missense	probably benign	0.03
R4506:Or8a1b	UTSW	9	37,622,760 (GRCm39)	missense	probably benign	0.03
R5017:Or8a1b	UTSW	9	37,622,821 (GRCm39)	nonsense	probably null
R5268:Or8a1b	UTSW	9	37,623,300 (GRCm39)	missense	probably damaging	1.00
R5316:Or8a1b	UTSW	9	37,622,981 (GRCm39)	missense	possibly damaging	0.90
R5372:Or8a1b	UTSW	9	37,623,234 (GRCm39)	missense	possibly damaging	0.49
R5385:Or8a1b	UTSW	9	37,623,317 (GRCm39)	missense	probably damaging	1.00
R5822:Or8a1b	UTSW	9	37,623,087 (GRCm39)	missense	probably benign	0.01
R5906:Or8a1b	UTSW	9	37,623,101 (GRCm39)	missense	probably benign	0.23
R5990:Or8a1b	UTSW	9	37,623,406 (GRCm39)	missense	probably damaging	0.99
R6842:Or8a1b	UTSW	9	37,622,885 (GRCm39)	missense	probably benign
R7712:Or8a1b	UTSW	9	37,623,429 (GRCm39)	missense	probably damaging	1.00
R8132:Or8a1b	UTSW	9	37,623,369 (GRCm39)	missense	probably benign	0.41
R8435:Or8a1b	UTSW	9	37,622,846 (GRCm39)	missense	probably damaging	1.00
R9378:Or8a1b	UTSW	9	37,623,473 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8a1b	UTSW	9	37,622,860 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GATGTCACAGAAGTAGTGGCTG -3'
(R):5'- GGCATGATCACCTTGATTGGAC -3'

Sequencing Primer
(F):5'- TGGCTGATGAGGTCCTCACAATAG -3'
(R):5'- GCATGATCACCTTGATTGGACTCAAC -3'

Posted On

2021-11-19