Mutagenetix > Incidental Mutation

Incidental Mutation 'R7712:Or8a1b'

594692

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

045770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37622644-37623576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37623429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 49 (I49V)

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: I49V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: I49V

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: I49V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215727
AA Change: I49V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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]
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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,303,799 (GRCm39)	D74A	probably benign	Het
Alox15	T	C	11: 70,241,079 (GRCm39)		probably null	Het
Ano5	A	G	7: 51,222,805 (GRCm39)	T455A	probably benign	Het
Ano5	T	G	7: 51,240,403 (GRCm39)	I827S	probably damaging	Het
Arid1a	G	A	4: 133,479,922 (GRCm39)	A334V	probably benign	Het
Atp13a4	A	G	16: 29,278,305 (GRCm39)	C298R		Het
Atp4a	T	A	7: 30,414,978 (GRCm39)	S256T	probably damaging	Het
Atp6v1c1	G	A	15: 38,687,049 (GRCm39)	V215I	probably benign	Het
Bbs9	T	A	9: 22,582,109 (GRCm39)	F600L	probably benign	Het
Bmp8b	A	T	4: 123,018,257 (GRCm39)	Y376F	possibly damaging	Het
Cacna2d1	A	T	5: 16,567,347 (GRCm39)	D986V	probably damaging	Het
Ccdc162	A	G	10: 41,503,223 (GRCm39)	F973S	possibly damaging	Het
Ccdc177	G	A	12: 80,804,712 (GRCm39)	Q521*	probably null	Het
Cd209b	T	A	8: 3,973,299 (GRCm39)	E158D	possibly damaging	Het
Cdk14	G	A	5: 5,430,061 (GRCm39)	T22I	possibly damaging	Het
Chl1	A	T	6: 103,688,063 (GRCm39)	I968F	possibly damaging	Het
Cnot7	T	C	8: 40,947,122 (GRCm39)	Y255C	probably damaging	Het
Col4a2	T	A	8: 11,475,376 (GRCm39)	L600H	probably benign	Het
Cpne7	C	A	8: 123,850,920 (GRCm39)	L129M	probably damaging	Het
Cpxm2	G	T	7: 131,756,107 (GRCm39)	P79Q	possibly damaging	Het
Dhx9	T	A	1: 153,340,747 (GRCm39)	N631I	probably benign	Het
Dmxl1	T	C	18: 50,026,528 (GRCm39)	S1879P	probably damaging	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Dok7	A	G	5: 35,223,866 (GRCm39)	N98S	probably damaging	Het
Fgd2	A	G	17: 29,595,886 (GRCm39)	T515A	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gm5796	A	G	14: 15,379,960 (GRCm39)	Y90C	probably damaging	Het
H60b	C	A	10: 22,161,637 (GRCm39)	H42N	possibly damaging	Het
Hipk2	A	G	6: 38,680,569 (GRCm39)	S924P	probably benign	Het
Hpf1	C	A	8: 61,358,613 (GRCm39)	S27*	probably null	Het
Idua	T	G	5: 108,829,388 (GRCm39)	D443E	probably benign	Het
Lamc2	C	T	1: 153,009,357 (GRCm39)	G816D	possibly damaging	Het
Lgi3	T	A	14: 70,768,551 (GRCm39)	V16E	unknown	Het
Lpar1	T	A	4: 58,486,795 (GRCm39)	M159L	probably benign	Het
Magi2	A	G	5: 20,755,280 (GRCm39)	D618G	possibly damaging	Het
Man2b2	C	G	5: 36,967,658 (GRCm39)	Q903H	probably benign	Het
Marchf7	A	T	2: 60,065,334 (GRCm39)	K537*	probably null	Het
Mcoln1	T	C	8: 3,555,873 (GRCm39)	F56S	probably damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo1b	A	T	1: 51,832,836 (GRCm39)	M383K	probably damaging	Het
Or12k7	A	T	2: 36,958,916 (GRCm39)	T200S	probably damaging	Het
Or1f19	T	C	16: 3,410,295 (GRCm39)	F12L	probably damaging	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pcdha8	A	C	18: 37,125,737 (GRCm39)	D73A	possibly damaging	Het
Pcdhga8	C	T	18: 37,860,102 (GRCm39)	T386M	possibly damaging	Het
Pdzd2	G	T	15: 12,407,422 (GRCm39)	T346N	probably damaging	Het
Pik3c2b	A	G	1: 133,013,349 (GRCm39)	Q781R	probably damaging	Het
Pp2d1	T	A	17: 53,815,318 (GRCm39)	T469S	possibly damaging	Het
Sectm1a	G	A	11: 120,959,631 (GRCm39)	L166F	probably damaging	Het
Sgms1	T	A	19: 32,120,169 (GRCm39)	M246L	probably benign	Het
Shroom3	G	A	5: 93,098,806 (GRCm39)	G1429S	probably benign	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Sowahb	C	T	5: 93,191,240 (GRCm39)	S493N	probably benign	Het
Spc25	T	A	2: 69,036,481 (GRCm39)	R7S	unknown	Het
Sult2b1	A	G	7: 45,379,620 (GRCm39)	I308T	probably benign	Het
Tkt	A	G	14: 30,280,763 (GRCm39)	N65D	probably benign	Het
Ttc5	A	T	14: 51,010,769 (GRCm39)	S221T	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Wipf1	A	C	2: 73,274,805 (GRCm39)	S55R	probably damaging	Het
Zdbf2	T	C	1: 63,344,530 (GRCm39)	S970P	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp362	A	T	4: 128,671,203 (GRCm39)	H313Q	probably benign	Het
Zfy2	T	A	Y: 2,121,420 (GRCm39)	I158F	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
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'- GCCATCACAGTGAGCATGTAAC -3'
(R):5'- GAAAACCAGCTGCTTCAAGC -3'

Sequencing Primer
(F):5'- TGAGCATGTAACACTCAGCAATG -3'
(R):5'- CTTCTCTCCCACCACACAGG -3'

Posted On

2019-11-12