Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Or8a1b'

21572

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

038414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0129 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

37622644-37623576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37623236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 113 (Y113C)

Ref Sequence

ENSEMBL: ENSMUSP00000151178 (fasta)

Gene Model

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

AlphaFold

Q8VGE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000104875
AA Change: Y113C

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

SMART Domains

Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: Y113C

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: Y113C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215727
AA Change: Y113C

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

Meta Mutation Damage Score

0.0975

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,920,265 (GRCm39)	D31G	probably damaging	Het
Actr2	A	G	11: 20,050,939 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,618,862 (GRCm39)	C764R	probably benign	Het
Ago4	A	C	4: 126,410,976 (GRCm39)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,336,395 (GRCm39)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,474,163 (GRCm39)	L26P	probably damaging	Het
Appl1	A	T	14: 26,650,600 (GRCm39)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,635,370 (GRCm39)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,308,744 (GRCm39)	E47G	probably damaging	Het
Birc6	A	G	17: 74,835,755 (GRCm39)	D70G	probably benign	Het
Bola2	G	A	7: 126,295,731 (GRCm39)	V56M	probably damaging	Het
Cd300lg	A	G	11: 101,944,918 (GRCm39)		probably null	Het
Cdc42bpb	A	G	12: 111,271,393 (GRCm39)		probably benign	Het
Ceacam20	A	G	7: 19,710,185 (GRCm39)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,391,847 (GRCm39)	M662V	probably benign	Het
Chd3	C	A	11: 69,239,327 (GRCm39)	E1607*	probably null	Het
Chtf18	A	T	17: 25,946,285 (GRCm39)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm39)	N200S	probably benign	Het
Csmd1	G	A	8: 16,129,956 (GRCm39)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,412,350 (GRCm39)	T204I	probably damaging	Het
Dennd4a	T	C	9: 64,800,576 (GRCm39)	S905P	probably damaging	Het
Dhx57	T	C	17: 80,546,343 (GRCm39)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,480,441 (GRCm39)		probably benign	Het
Dnhd1	G	T	7: 105,370,131 (GRCm39)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,838,466 (GRCm39)	C1120R	probably benign	Het
Efs	C	T	14: 55,154,680 (GRCm39)	A427T	probably damaging	Het
Erich6	T	C	3: 58,531,799 (GRCm39)	E399G	probably damaging	Het
Espl1	A	G	15: 102,225,083 (GRCm39)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,690,120 (GRCm39)	S830P	probably damaging	Het
Herc1	T	A	9: 66,355,357 (GRCm39)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,326,637 (GRCm39)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,546,503 (GRCm39)	T1026I	probably benign	Het
Kif1b	A	G	4: 149,345,658 (GRCm39)	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,484,733 (GRCm39)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,580,403 (GRCm39)	V155I	probably damaging	Het
Limch1	A	T	5: 67,116,933 (GRCm39)	N116I	probably damaging	Het
Lonp2	C	T	8: 87,361,518 (GRCm39)	R232C	probably damaging	Het
Lrch1	C	A	14: 75,073,186 (GRCm39)	C151F	probably benign	Het
Lrig3	A	G	10: 125,842,812 (GRCm39)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,327,068 (GRCm39)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,513,494 (GRCm39)	K501N	probably damaging	Het
Mdc1	G	T	17: 36,165,337 (GRCm39)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,312,914 (GRCm39)		probably benign	Het
Mul1	T	C	4: 138,165,032 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,901,411 (GRCm39)		probably benign	Het
Notch1	G	C	2: 26,350,470 (GRCm39)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,053,936 (GRCm39)	L2200M	probably benign	Het
Odad3	G	T	9: 21,904,848 (GRCm39)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,774,667 (GRCm39)		probably null	Het
Or12k5	G	A	2: 36,895,057 (GRCm39)	R190*	probably null	Het
Or5ae2	T	A	7: 84,506,196 (GRCm39)	F206L	probably benign	Het
Plekhs1	T	C	19: 56,465,722 (GRCm39)		probably null	Het
Ppm1h	G	A	10: 122,777,260 (GRCm39)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,345,207 (GRCm39)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,509,164 (GRCm39)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,119,990 (GRCm39)	T159I	probably benign	Het
Rab20	A	G	8: 11,504,415 (GRCm39)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,574,616 (GRCm39)	M1R	probably null	Het
Skp2	A	G	15: 9,125,280 (GRCm39)	S100P	probably damaging	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sspo	A	T	6: 48,432,352 (GRCm39)	T684S	probably benign	Het
Syt3	A	G	7: 44,042,782 (GRCm39)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,610,903 (GRCm39)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,750,800 (GRCm39)		probably benign	Het
Tsfm	A	G	10: 126,866,339 (GRCm39)	L74P	probably benign	Het
Ttn	G	C	2: 76,564,609 (GRCm39)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,629,252 (GRCm39)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,005,330 (GRCm39)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,706,441 (GRCm39)	S212T	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
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
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'- TCATTGGAGCTGATGCGAAGGATG -3'
(R):5'- TGGGCATGATCACCTTGATTGGAC -3'

Sequencing Primer
(F):5'- GCTGATGAGGTCCTCACAATAG -3'
(R):5'- GATCACCTTGATTGGACTCAAC -3'

Posted On

2013-04-11