Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Or8b42'

102137

Institutional Source

Beutler Lab

Gene Symbol

Or8b42

Ensembl Gene

ENSMUSG00000052058

Gene Name

olfactory receptor family 8 subfamily B member 42

Synonyms

Olfr901, GA_x6K02T2PVTD-32123032-32123967, MOR162-8

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38341580-38342515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38342397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 273 (V273A)

Ref Sequence

ENSEMBL: ENSMUSP00000150506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063716] [ENSMUST00000216502] [ENSMUST00000216644]

AlphaFold

Q7TRD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063716
AA Change: V273A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: V273A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	4.2e-47	PFAM
Pfam:7tm_1	42	290	3.2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216502
AA Change: V273A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216644
AA Change: V273A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	probably damaging	Het

Other mutations in Or8b42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or8b42	APN	9	38,341,811 (GRCm39)	missense	probably benign	0.20
IGL01875:Or8b42	APN	9	38,341,594 (GRCm39)	missense	probably damaging	1.00
R0010:Or8b42	UTSW	9	38,342,216 (GRCm39)	missense	possibly damaging	0.70
R1259:Or8b42	UTSW	9	38,342,169 (GRCm39)	missense	probably damaging	0.99
R1273:Or8b42	UTSW	9	38,341,980 (GRCm39)	missense	probably benign	0.05
R1475:Or8b42	UTSW	9	38,342,160 (GRCm39)	missense	probably benign	0.30
R1530:Or8b42	UTSW	9	38,341,620 (GRCm39)	missense	probably damaging	0.97
R1591:Or8b42	UTSW	9	38,341,707 (GRCm39)	missense	probably damaging	1.00
R1750:Or8b42	UTSW	9	38,341,986 (GRCm39)	missense	probably damaging	1.00
R1756:Or8b42	UTSW	9	38,342,291 (GRCm39)	missense	probably benign
R2080:Or8b42	UTSW	9	38,342,378 (GRCm39)	missense	probably benign	0.01
R3081:Or8b42	UTSW	9	38,342,352 (GRCm39)	missense	possibly damaging	0.82
R4174:Or8b42	UTSW	9	38,342,316 (GRCm39)	missense	probably damaging	0.97
R4299:Or8b42	UTSW	9	38,342,108 (GRCm39)	missense	probably damaging	1.00
R4898:Or8b42	UTSW	9	38,342,111 (GRCm39)	missense	probably benign	0.01
R5068:Or8b42	UTSW	9	38,341,760 (GRCm39)	missense	probably damaging	1.00
R5695:Or8b42	UTSW	9	38,342,472 (GRCm39)	missense	probably benign	0.01
R5973:Or8b42	UTSW	9	38,341,627 (GRCm39)	missense	probably damaging	0.99
R6929:Or8b42	UTSW	9	38,342,444 (GRCm39)	missense	probably benign	0.22
R8265:Or8b42	UTSW	9	38,342,469 (GRCm39)	missense	probably damaging	0.99
R8321:Or8b42	UTSW	9	38,341,850 (GRCm39)	missense	probably damaging	0.97
R9425:Or8b42	UTSW	9	38,342,286 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TCCTGCACAAACACCTCTGTCAATG -3'
(R):5'- TTCCAAGAGTCAGGTGGCTGAGAC -3'

Sequencing Primer
(F):5'- ACACCTCTGTCAATGAGCTGG -3'
(R):5'- CACAGTGGCTTAATCTGTGAACG -3'

Posted On

2014-01-15