Mutagenetix > Incidental Mutation

Incidental Mutation 'R5372:Or8a1b'

428801

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

042948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5372 (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 37623234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 114 (M114V)

Ref Sequence

ENSEMBL: ENSMUSP00000151178 (fasta)

Gene Model

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

AlphaFold

Q8VGE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104875
AA Change: M114V

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: M114V

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

possibly damaging
Transcript: ENSMUST00000211952
AA Change: M114V

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215727
AA Change: M114V

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (89/93)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,848,988 (GRCm39)	D108E	probably damaging	Het
Abhd12b	A	G	12: 70,227,800 (GRCm39)	D194G	probably damaging	Het
Adck5	A	G	15: 76,478,707 (GRCm39)		probably benign	Het
Adgrb3	C	T	1: 25,167,940 (GRCm39)	V792I	probably benign	Het
Anxa8	G	A	14: 33,815,868 (GRCm39)	V174M	probably damaging	Het
Apol9b	A	T	15: 77,619,920 (GRCm39)	R239W	probably benign	Het
Arhgap26	A	G	18: 38,775,509 (GRCm39)		noncoding transcript	Het
Atrnl1	A	G	19: 57,743,968 (GRCm39)	Y1190C	probably benign	Het
Brinp3	T	G	1: 146,707,464 (GRCm39)	L376R	probably damaging	Het
Btbd2	A	T	10: 80,484,475 (GRCm39)	M132K	probably damaging	Het
C130073F10Rik	A	T	4: 101,747,684 (GRCm39)	I115K	probably damaging	Het
C1ra	T	A	6: 124,498,584 (GRCm39)	Y426N	probably damaging	Het
Cacna1b	A	T	2: 24,623,971 (GRCm39)	V203E	probably damaging	Het
Catsperg1	T	A	7: 28,910,137 (GRCm39)	D68V	probably benign	Het
Ccdc158	A	C	5: 92,780,419 (GRCm39)	S885A	possibly damaging	Het
Cdc42bpa	T	C	1: 179,892,544 (GRCm39)	V236A	probably damaging	Het
Cdca7	A	T	2: 72,312,793 (GRCm39)	E176D	probably damaging	Het
Cdk17	A	G	10: 93,061,901 (GRCm39)	D211G	probably benign	Het
Clca3a2	A	C	3: 144,503,286 (GRCm39)	M888R	probably benign	Het
Clcn7	T	A	17: 25,376,153 (GRCm39)	M568K	possibly damaging	Het
Clip1	G	T	5: 123,768,303 (GRCm39)	N811K	probably benign	Het
Col12a1	T	A	9: 79,585,648 (GRCm39)	Y1243F	probably damaging	Het
Dctn1	T	A	6: 83,167,192 (GRCm39)	D315E	probably damaging	Het
Dgcr2	T	C	16: 17,690,508 (GRCm39)	T41A	probably benign	Het
Dync2h1	G	A	9: 7,176,962 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,521,031 (GRCm39)	I1264V	unknown	Het
Fam167b	A	T	4: 129,472,092 (GRCm39)	L26Q	possibly damaging	Het
Fam178b	T	A	1: 36,603,929 (GRCm39)	I457F	possibly damaging	Het
Fgd4	A	T	16: 16,302,155 (GRCm39)	N133K	probably benign	Het
Fndc1	C	G	17: 7,984,042 (GRCm39)	V1295L	unknown	Het
Gad2	A	T	2: 22,580,255 (GRCm39)	D552V	possibly damaging	Het
Hars2	T	C	18: 36,923,534 (GRCm39)	Y361H	possibly damaging	Het
Heca	T	A	10: 17,790,887 (GRCm39)	S390C	probably damaging	Het
Hephl1	G	T	9: 15,009,195 (GRCm39)	Y132*	probably null	Het
Hormad1	T	A	3: 95,483,735 (GRCm39)	D182E	probably damaging	Het
Ifna15	G	A	4: 88,476,338 (GRCm39)	P49S	probably damaging	Het
Khsrp	T	C	17: 57,331,292 (GRCm39)	T429A	possibly damaging	Het
Magi2	A	G	5: 20,907,108 (GRCm39)	Q1094R	possibly damaging	Het
Map3k11	T	A	19: 5,740,990 (GRCm39)	I239K	probably damaging	Het
Mtus2	A	G	5: 148,250,222 (GRCm39)	T1319A	probably damaging	Het
Nup54	A	G	5: 92,565,716 (GRCm39)	I406T	probably damaging	Het
Nxpe2	T	C	9: 48,250,819 (GRCm39)	T43A	possibly damaging	Het
Nynrin	A	G	14: 56,105,948 (GRCm39)	E889G	probably benign	Het
Opa1	A	C	16: 29,404,937 (GRCm39)	H45P	probably benign	Het
Or14c44	T	A	7: 86,062,176 (GRCm39)	I202N	possibly damaging	Het
Or4f60	A	G	2: 111,902,454 (GRCm39)	I158T	probably benign	Het
Or56b2j	A	G	7: 104,353,002 (GRCm39)	D76G	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Papola	A	G	12: 105,793,309 (GRCm39)	K543R	probably benign	Het
Plcxd3	G	A	15: 4,604,270 (GRCm39)	V293I	probably benign	Het
Polr2g	T	C	19: 8,774,667 (GRCm39)	Y72C	probably damaging	Het
Ppp1r21	A	G	17: 88,858,103 (GRCm39)	K205E	probably benign	Het
Ptpre	A	G	7: 135,255,669 (GRCm39)	K53E	possibly damaging	Het
Rasal3	T	C	17: 32,610,318 (GRCm39)	K990E	probably benign	Het
Rgs3	A	T	4: 62,570,934 (GRCm39)		probably benign	Het
Rhd	A	G	4: 134,611,943 (GRCm39)	T254A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scube3	G	T	17: 28,371,456 (GRCm39)	C57F	probably damaging	Het
Sh2d5	A	G	4: 137,982,010 (GRCm39)	D57G	possibly damaging	Het
Slc12a6	T	A	2: 112,177,705 (GRCm39)	L608*	probably null	Het
Slk	A	T	19: 47,613,832 (GRCm39)	N896I	probably damaging	Het
Smc6	A	G	12: 11,332,431 (GRCm39)	D211G	probably damaging	Het
Sox6	A	T	7: 115,149,386 (GRCm39)	Y371*	probably null	Het
Srcap	G	A	7: 127,156,785 (GRCm39)		probably null	Het
Stard5	T	A	7: 83,282,428 (GRCm39)	D80E	probably damaging	Het
Supv3l1	C	T	10: 62,268,136 (GRCm39)	V570M	probably damaging	Het
Syt7	G	T	19: 10,403,985 (GRCm39)	V180L	probably damaging	Het
Tacc2	T	A	7: 130,224,990 (GRCm39)	H558Q	probably benign	Het
Tas2r120	T	A	6: 132,634,446 (GRCm39)	M176K	possibly damaging	Het
Tmem135	A	T	7: 88,814,382 (GRCm39)		probably null	Het
Trim35	T	C	14: 66,534,715 (GRCm39)	V66A	possibly damaging	Het
Tspan12	A	G	6: 21,772,698 (GRCm39)	S284P	probably benign	Het
Ttll3	A	T	6: 113,378,382 (GRCm39)	K257*	probably null	Het
Uggt1	C	A	1: 36,283,141 (GRCm39)		probably benign	Het
Vmn2r7	T	A	3: 64,623,745 (GRCm39)	I283F	probably damaging	Het
Wdfy2	T	G	14: 63,192,334 (GRCm39)	H363Q	probably damaging	Het
Wdr4	T	A	17: 31,729,554 (GRCm39)	K95N	probably damaging	Het
Zfp141	T	C	7: 42,126,620 (GRCm39)	N91S	possibly damaging	Het
Zfp383	C	T	7: 29,614,695 (GRCm39)	R317*	probably null	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
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'- TAGTGGCTGATGAGGTCCTC -3'
(R):5'- TGGGCATGATCACCTTGATTG -3'

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

Posted On

2016-09-06