Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01335:Or6c8b'

74569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c8b

Ensembl Gene

ENSMUSG00000056853

Gene Name

olfactory receptor family 6 subfamily C member 8B

Synonyms

Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678

Accession Numbers

Essential gene?

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

Stock #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

128882001-128882930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128882380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 184 (K184R)

Ref Sequence

ENSEMBL: ENSMUSP00000150725 (fasta)

Gene Model

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

AlphaFold

Q7TRI6

Predicted Effect

probably benign
Transcript: ENSMUST00000071559
AA Change: K184R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: K184R

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 benign
Transcript: ENSMUST00000216460
AA Change: K184R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,284,307 (GRCm39)	M300K	possibly damaging	Het
Adamts14	T	A	10: 61,034,460 (GRCm39)	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,423,981 (GRCm39)	Y1083C	probably damaging	Het
Anxa8	T	C	14: 33,811,547 (GRCm39)	M34T	probably damaging	Het
Aox1	G	T	1: 58,121,312 (GRCm39)	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628 (GRCm39)	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,296,298 (GRCm39)	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,260,530 (GRCm39)		probably benign	Het
Cdh6	C	T	15: 13,051,395 (GRCm39)	A413T	probably benign	Het
Cfap96	A	T	8: 46,426,642 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,623,492 (GRCm39)	Q294R	probably damaging	Het
Cit	C	T	5: 116,046,889 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,690,497 (GRCm39)	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,743,618 (GRCm39)	G107E	probably damaging	Het
Gja8	T	C	3: 96,826,558 (GRCm39)	Q368R	probably benign	Het
Gm3633	T	A	14: 42,462,595 (GRCm39)		probably benign	Het
Gm4987	A	T	X: 45,544,755 (GRCm39)		noncoding transcript	Het
Gna13	G	A	11: 109,256,569 (GRCm39)	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,658,057 (GRCm39)	E351D	probably damaging	Het
Idua	A	G	5: 108,828,737 (GRCm39)	Q280R	probably benign	Het
Igsf5	T	A	16: 96,174,353 (GRCm39)		probably benign	Het
Mrpl52	T	C	14: 54,664,656 (GRCm39)	Y39H	probably damaging	Het
Naa16	A	T	14: 79,582,556 (GRCm39)		probably benign	Het
Naa35	T	A	13: 59,764,610 (GRCm39)	L338Q	probably damaging	Het
Nat8l	A	T	5: 34,155,791 (GRCm39)	Y149F	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,347,520 (GRCm39)	S351R	probably benign	Het
Or10w1	A	T	19: 13,632,540 (GRCm39)	H249L	probably damaging	Het
Or12e10	A	T	2: 87,640,790 (GRCm39)	T209S	probably damaging	Het
Or8k1	A	T	2: 86,047,916 (GRCm39)	L46Q	probably damaging	Het
Pacs1	A	T	19: 5,192,660 (GRCm39)	V624E	probably damaging	Het
Pde6b	G	A	5: 108,571,379 (GRCm39)	R444H	probably benign	Het
Pigk	A	T	3: 152,448,173 (GRCm39)	T226S	probably benign	Het
Prkdc	T	C	16: 15,634,760 (GRCm39)		probably null	Het
Ptbp1	G	A	10: 79,698,708 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,307,484 (GRCm39)	V418A	probably damaging	Het
Rhot1	A	T	11: 80,141,055 (GRCm39)	D421V	probably damaging	Het
Rimkla	T	C	4: 119,335,156 (GRCm39)	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,355,124 (GRCm39)	V274A	probably benign	Het
Tatdn2	T	A	6: 113,681,017 (GRCm39)	M289K	probably benign	Het
Trak1	A	G	9: 121,283,382 (GRCm39)	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,488,410 (GRCm39)	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,484,644 (GRCm39)	C127S	probably damaging	Het
Uimc1	T	A	13: 55,182,724 (GRCm39)	Q619L	probably benign	Het
Upk3a	T	A	15: 84,903,786 (GRCm39)	Y162N	probably damaging	Het
Usp33	T	C	3: 152,097,854 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,832,732 (GRCm39)	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,434,602 (GRCm39)	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,484,087 (GRCm39)	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,488,239 (GRCm39)	E756G	possibly damaging	Het
Xlr3c	C	A	X: 72,303,639 (GRCm39)	V102F	probably benign	Het
Zfp384	T	G	6: 125,002,016 (GRCm39)	D220E	probably benign	Het
Zfp521	A	T	18: 13,977,776 (GRCm39)	V879E	probably benign	Het

Other mutations in Or6c8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7021:Or6c8b	UTSW	10	128,882,899 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-10-07