Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Or6c8b'

545637

Institutional Source

Beutler Lab

Gene Symbol

Or6c8b

Ensembl Gene

ENSMUSG00000056853

Gene Name

olfactory receptor family 6 subfamily C member 8B

Synonyms

Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678

MMRRC Submission

045122-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128882001-128882930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128882899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 11 (I11N)

Ref Sequence

ENSEMBL: ENSMUSP00000150725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071559] [ENSMUST00000216460]

AlphaFold

Q7TRI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000071559
AA Change: I11N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: I11N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-49	PFAM
Pfam:7tm_1	39	288	7.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216460
AA Change: I11N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	Het

Other mutations in Or6c8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Or6c8b	APN	10	128,882,380 (GRCm39)	missense	probably benign	0.06
IGL01697:Or6c8b	APN	10	128,882,371 (GRCm39)	missense	probably damaging	1.00
R0313:Or6c8b	UTSW	10	128,882,695 (GRCm39)	missense	possibly damaging	0.61
R0346:Or6c8b	UTSW	10	128,882,342 (GRCm39)	missense	possibly damaging	0.90
R1114:Or6c8b	UTSW	10	128,882,711 (GRCm39)	missense	possibly damaging	0.95
R1157:Or6c8b	UTSW	10	128,882,027 (GRCm39)	missense	probably benign	0.35
R2351:Or6c8b	UTSW	10	128,882,797 (GRCm39)	missense	probably benign
R5119:Or6c8b	UTSW	10	128,882,711 (GRCm39)	missense	possibly damaging	0.95
R5531:Or6c8b	UTSW	10	128,882,433 (GRCm39)	missense	probably damaging	1.00
R5540:Or6c8b	UTSW	10	128,882,364 (GRCm39)	missense	probably damaging	0.96
R5756:Or6c8b	UTSW	10	128,882,095 (GRCm39)	missense	probably benign	0.04
R6011:Or6c8b	UTSW	10	128,882,508 (GRCm39)	missense	probably benign
R7257:Or6c8b	UTSW	10	128,882,324 (GRCm39)	missense	probably benign	0.13
R7330:Or6c8b	UTSW	10	128,882,333 (GRCm39)	missense	probably damaging	0.97
R9235:Or6c8b	UTSW	10	128,882,051 (GRCm39)	missense	probably benign	0.04
R9335:Or6c8b	UTSW	10	128,882,614 (GRCm39)	missense	probably damaging	1.00
R9594:Or6c8b	UTSW	10	128,882,354 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CCGTTGTAATGCTGACCAGG -3'
(R):5'- CCAAGAAAATGGGCCATTAGC -3'

Sequencing Primer
(F):5'- TTGTAATGCTGACCAGGACCCTG -3'
(R):5'- CCATTAGCCTGGGAAAGCTCATG -3'

Posted On

2019-05-13