Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:Or8b39'

435969

Institutional Source

Beutler Lab

Gene Symbol

Or8b39

Ensembl Gene

ENSMUSG00000096167

Gene Name

olfactory receptor family 8 subfamily B member 39

Synonyms

GA_x6K02T2PVTD-31764095-31765024, MOR162-5, Olfr887

MMRRC Submission

043099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37996134-37997063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37996419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 96 (C96R)

Ref Sequence

ENSEMBL: ENSMUSP00000148346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074681] [ENSMUST00000212502] [ENSMUST00000213091]

AlphaFold

Q9EQA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000074681
AA Change: C96R

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

SMART Domains

Protein: ENSMUSP00000074248
Gene: ENSMUSG00000096167
AA Change: C96R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	3.7e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	253	3.1e-5	PFAM
Pfam:7tm_1	41	288	8.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212502
AA Change: C96R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213091
AA Change: C96R

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

Meta Mutation Damage Score

0.8905

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,808 (GRCm39)	K86R	probably benign	Het
Abca13	T	C	11: 9,241,545 (GRCm39)	V1136A	probably benign	Het
Arfgap2	G	A	2: 91,106,114 (GRCm39)	R530H	probably benign	Het
Arhgap30	T	C	1: 171,231,707 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,329,017 (GRCm39)	R8G	probably benign	Het
Bod1l	T	C	5: 41,949,276 (GRCm39)	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,925,918 (GRCm39)	E227G	probably damaging	Het
Cercam	A	G	2: 29,765,641 (GRCm39)	D261G	probably benign	Het
Chd9	A	T	8: 91,778,132 (GRCm39)	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,224,796 (GRCm39)	S126R	probably damaging	Het
Defa17	T	A	8: 22,146,565 (GRCm39)	C64S	probably damaging	Het
Depdc5	A	T	5: 33,021,973 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,076,908 (GRCm39)	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,169,971 (GRCm39)	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,036,162 (GRCm39)	Y416C	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,394,498 (GRCm39)	I106L	probably benign	Het
Flacc1	A	G	1: 58,697,588 (GRCm39)	M384T	probably benign	Het
Gm10610	A	G	7: 83,198,614 (GRCm39)		noncoding transcript	Het
Gpr22	A	G	12: 31,759,348 (GRCm39)	F258S	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hspg2	C	T	4: 137,247,862 (GRCm39)	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,270,136 (GRCm39)	Q2365K	probably benign	Het
Intu	A	G	3: 40,647,017 (GRCm39)		probably null	Het
Kdm1b	T	C	13: 47,232,672 (GRCm39)	M714T	probably damaging	Het
Kif21a	A	G	15: 90,852,316 (GRCm39)	M924T	probably damaging	Het
Klb	A	T	5: 65,536,577 (GRCm39)	M636L	probably benign	Het
Klrb1a	G	A	6: 128,586,699 (GRCm39)	H219Y	probably benign	Het
Macroh2a2	T	C	10: 61,583,496 (GRCm39)	I215V	probably benign	Het
Marchf10	C	T	11: 105,280,957 (GRCm39)	D443N	probably damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Or9i1	T	C	19: 13,839,328 (GRCm39)	I57T	probably benign	Het
Pard3b	A	G	1: 61,678,502 (GRCm39)	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,684,856 (GRCm39)	V441E	probably damaging	Het
Pde6g	A	T	11: 120,338,998 (GRCm39)	I64N	probably damaging	Het
Pdia4	C	T	6: 47,773,571 (GRCm39)	V593M	probably damaging	Het
Pnn	T	G	12: 59,118,716 (GRCm39)	V433G	possibly damaging	Het
Rbak	G	A	5: 143,159,745 (GRCm39)	S436F	probably damaging	Het
Rpl11	A	G	4: 135,780,043 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,785,610 (GRCm39)	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Smg1	T	A	7: 117,756,386 (GRCm39)		probably benign	Het
St8sia2	T	C	7: 73,616,648 (GRCm39)	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,709,105 (GRCm39)		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,535,334 (GRCm39)		noncoding transcript	Het
Taf1d	T	A	9: 15,220,146 (GRCm39)	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,488,341 (GRCm39)	T198I	probably benign	Het
Trappc2b	T	C	11: 51,576,796 (GRCm39)	H34R	probably benign	Het
Ube2q2	T	A	9: 55,099,163 (GRCm39)	V168E	possibly damaging	Het
Ucma	A	G	2: 4,986,141 (GRCm39)	R105G	probably benign	Het
Vmn2r97	C	T	17: 19,148,617 (GRCm39)	Q171*	probably null	Het
Wapl	T	C	14: 34,452,619 (GRCm39)		probably null	Het
Zfand4	T	A	6: 116,291,256 (GRCm39)	C397S	possibly damaging	Het
Zfhx3	A	G	8: 109,675,583 (GRCm39)	N2211S	probably damaging	Het
Zfp143	G	T	7: 109,669,687 (GRCm39)	G39C	probably benign	Het
Zfp568	T	A	7: 29,722,301 (GRCm39)	D414E	possibly damaging	Het
Zfp574	C	T	7: 24,781,375 (GRCm39)	A799V	probably damaging	Het

Other mutations in Or8b39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02506:Or8b39	APN	9	37,996,741 (GRCm39)	missense	probably damaging	1.00
R0639:Or8b39	UTSW	9	37,996,666 (GRCm39)	missense	probably damaging	1.00
R0671:Or8b39	UTSW	9	37,996,423 (GRCm39)	missense	possibly damaging	0.91
R1957:Or8b39	UTSW	9	37,996,419 (GRCm39)	missense	probably damaging	1.00
R1958:Or8b39	UTSW	9	37,996,419 (GRCm39)	missense	probably damaging	1.00
R2126:Or8b39	UTSW	9	37,996,572 (GRCm39)	missense	probably benign	0.02
R5329:Or8b39	UTSW	9	37,996,422 (GRCm39)	missense	probably benign	0.00
R5681:Or8b39	UTSW	9	37,996,927 (GRCm39)	missense	possibly damaging	0.90
R6042:Or8b39	UTSW	9	37,996,390 (GRCm39)	missense	probably damaging	0.99
R6417:Or8b39	UTSW	9	37,996,890 (GRCm39)	missense	probably benign	0.18
R6420:Or8b39	UTSW	9	37,996,890 (GRCm39)	missense	probably benign	0.18
R9299:Or8b39	UTSW	9	37,996,785 (GRCm39)	missense	probably benign	0.38
R9399:Or8b39	UTSW	9	37,997,020 (GRCm39)	missense	probably benign	0.00
R9409:Or8b39	UTSW	9	37,996,584 (GRCm39)	missense	probably damaging	1.00
R9748:Or8b39	UTSW	9	37,996,353 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CTTCTTGGGAATCTATGTGGTCTCC -3'
(R):5'- CAGCATGCAAATGATGTGTGC -3'

Sequencing Primer
(F):5'- AATCTATGTGGTCTCCATTGTGG -3'
(R):5'- TGCCACAGCACCCACAG -3'

Posted On

2016-10-24