Mutagenetix > Incidental Mutation

Incidental Mutation 'R5822:Or8a1b'

449981

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

044052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37622644-37623576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37623087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 163 (M163V)

Ref Sequence

ENSEMBL: ENSMUSP00000151178 (fasta)

Gene Model

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

AlphaFold

Q8VGE3

Predicted Effect

probably benign
Transcript: ENSMUST00000104875
AA Change: M163V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: M163V

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 benign
Transcript: ENSMUST00000211952
AA Change: M163V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000215727
AA Change: M163V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.1737

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (54/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8a	C	T	11: 109,921,705 (GRCm39)	E1450K	probably damaging	Het
B4galnt2	T	C	11: 95,756,985 (GRCm39)	Y482C	probably damaging	Het
Bud23	A	G	5: 135,092,775 (GRCm39)	F9L	probably damaging	Het
Cacna1s	A	T	1: 136,039,816 (GRCm39)	E1214V	probably damaging	Het
Cdh20	T	C	1: 104,861,823 (GRCm39)	M1T	probably null	Het
Chkb	T	C	15: 89,313,715 (GRCm39)	E30G	probably benign	Het
Crp	A	C	1: 172,525,635 (GRCm39)		probably benign	Het
Cyp11b1	T	C	15: 74,708,670 (GRCm39)	R375G	probably null	Het
Ddx11	C	T	17: 66,436,976 (GRCm39)	S90L	probably benign	Het
Flnc	A	C	6: 29,459,429 (GRCm39)	I2510L	probably damaging	Het
Ftdc1	C	A	16: 58,436,075 (GRCm39)		probably null	Het
Fyb1	T	A	15: 6,692,707 (GRCm39)		probably benign	Het
Gbp3	C	T	3: 142,272,239 (GRCm39)	P247L	probably benign	Het
Ggn	C	T	7: 28,871,981 (GRCm39)	P454S	probably damaging	Het
Herc1	T	A	9: 66,352,894 (GRCm39)	S2127T	probably benign	Het
Ipo11	A	G	13: 106,984,926 (GRCm39)		probably benign	Het
Kcnh7	G	A	2: 62,546,582 (GRCm39)	R1000W	probably benign	Het
Kdm5b	A	T	1: 134,516,511 (GRCm39)		probably benign	Het
Klc3	C	T	7: 19,129,724 (GRCm39)		probably null	Het
Lst1	A	T	17: 35,407,359 (GRCm39)	M3K	unknown	Het
Madd	C	T	2: 90,982,878 (GRCm39)	R1355Q	probably damaging	Het
Map3k10	A	G	7: 27,356,159 (GRCm39)	L920P	probably damaging	Het
Mdga2	A	G	12: 66,702,109 (GRCm39)	V423A	probably damaging	Het
Mogat2	T	C	7: 98,869,112 (GRCm39)	D302G	possibly damaging	Het
Nkapl	A	C	13: 21,652,593 (GRCm39)	S7A	unknown	Het
Npas2	A	G	1: 39,386,647 (GRCm39)	S639G	probably benign	Het
Nr1h5	T	G	3: 102,856,644 (GRCm39)	H260P	probably damaging	Het
Or2g25	T	C	17: 37,971,122 (GRCm39)	Y34C	probably damaging	Het
Or2t49	A	T	11: 58,392,464 (GRCm39)	L306Q	possibly damaging	Het
Or4c35	T	C	2: 89,808,787 (GRCm39)	S222P	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Pan2	T	C	10: 128,156,249 (GRCm39)	L1142P	probably damaging	Het
Pdik1l	C	T	4: 134,014,474 (GRCm39)	E11K	possibly damaging	Het
Ppp1r15a	A	G	7: 45,172,727 (GRCm39)	V555A	probably damaging	Het
Ppp6c	G	A	2: 39,090,064 (GRCm39)	Q81*	probably null	Het
Pramel18	A	G	4: 101,767,440 (GRCm39)	M230V	probably damaging	Het
Ptprz1	A	T	6: 23,001,444 (GRCm39)	Y1178F	probably benign	Het
Relch	G	A	1: 105,646,581 (GRCm39)	V660M	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rims2	T	A	15: 39,339,886 (GRCm39)	L860Q	probably damaging	Het
Sdr39u1	A	G	14: 56,135,196 (GRCm39)	V249A	probably benign	Het
Serhl	T	C	15: 83,000,528 (GRCm39)	V305A	probably benign	Het
Slc5a11	T	C	7: 122,851,654 (GRCm39)	I201T	probably damaging	Het
Stk32a	A	T	18: 43,446,552 (GRCm39)	E334V	probably benign	Het
Tmem217	A	G	17: 29,745,529 (GRCm39)	L67P	probably damaging	Het
Tnnt1	A	T	7: 4,519,345 (GRCm39)	L12*	probably null	Het
Trim80	C	T	11: 115,338,747 (GRCm39)	R526C	probably damaging	Het
Unc5b	A	T	10: 60,608,306 (GRCm39)	F635I	possibly damaging	Het
Utp20	T	G	10: 88,653,147 (GRCm39)	N311T	probably benign	Het
Zfp276	A	G	8: 123,982,457 (GRCm39)	T74A	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
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
R9054:Or8a1b	UTSW	9	37,623,204 (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'- TCATTGGAGCTGATGCGAAGG -3'
(R):5'- GGTGCATGTCTCAGCTATACTTC -3'

Sequencing Primer
(F):5'- CTGATGCGAAGGATGCTGGAC -3'
(R):5'- CTTCCTGGTTTTCGTCATTGCTGAG -3'

Posted On

2016-12-20