Mutagenetix > Incidental Mutation

Incidental Mutation 'R7330:Or6c8b'

569193

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

045423-MU

Accession Numbers

Essential gene?

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

Stock #

R7330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128882001-128882930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128882333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 200 (V200M)

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: V200M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: V200M

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: V200M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,977,450 (GRCm39)	T411A	possibly damaging	Het
Ace	A	G	11: 105,876,887 (GRCm39)	H1123R	probably damaging	Het
Acot12	T	A	13: 91,889,651 (GRCm39)	M1K	probably null	Het
Actr2	A	T	11: 20,022,544 (GRCm39)	M309K	probably damaging	Het
Ahsa2	G	T	11: 23,440,558 (GRCm39)	T279K	probably benign	Het
Ak8	A	G	2: 28,702,947 (GRCm39)	Y437C	possibly damaging	Het
Atp1a3	T	A	7: 24,700,577 (GRCm39)	K5*	probably null	Het
Bbs2	T	A	8: 94,814,033 (GRCm39)	E195V	possibly damaging	Het
C4b	T	A	17: 34,949,446 (GRCm39)	Y1505F	probably damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Cdh18	G	A	15: 23,227,036 (GRCm39)	V166I	possibly damaging	Het
Cep135	T	A	5: 76,754,592 (GRCm39)	C356*	probably null	Het
Cilp	A	T	9: 65,187,527 (GRCm39)	R1207S	probably benign	Het
Clcnkb	A	G	4: 141,137,923 (GRCm39)	I291T	possibly damaging	Het
Clrn3	G	T	7: 135,130,198 (GRCm39)	S12Y	probably damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cpvl	A	G	6: 53,951,744 (GRCm39)	I13T	probably benign	Het
Cyp2c68	A	G	19: 39,677,634 (GRCm39)	I452T	probably damaging	Het
Dhh	A	G	15: 98,792,291 (GRCm39)	V239A	probably damaging	Het
Edar	T	G	10: 58,446,376 (GRCm39)	H183P	probably damaging	Het
Epha2	T	A	4: 141,035,764 (GRCm39)	S67T	probably benign	Het
Gapdh	A	G	6: 125,139,900 (GRCm39)	L168P	probably benign	Het
Grm4	C	T	17: 27,653,798 (GRCm39)	W717*	probably null	Het
Gtf3c1	T	C	7: 125,303,055 (GRCm39)	I127V	probably benign	Het
Igkv4-72	C	T	6: 69,204,087 (GRCm39)	A35T	probably damaging	Het
Il6st	T	A	13: 112,630,185 (GRCm39)	S344T	probably benign	Het
Ip6k1	A	G	9: 107,922,452 (GRCm39)	D168G	possibly damaging	Het
Itpr1	G	A	6: 108,415,292 (GRCm39)	R1742H	probably benign	Het
Lat2	T	A	5: 134,635,641 (GRCm39)	T58S	probably damaging	Het
Limk2	T	C	11: 3,296,311 (GRCm39)	K566E	probably benign	Het
Lonp2	C	A	8: 87,358,022 (GRCm39)	T81K	probably damaging	Het
Mdn1	C	A	4: 32,723,685 (GRCm39)	N2540K	probably benign	Het
Myt1l	T	A	12: 29,901,553 (GRCm39)	D769E	unknown	Het
Neb	C	T	2: 52,079,715 (GRCm39)	V5780M	possibly damaging	Het
Or1j18	T	A	2: 36,625,057 (GRCm39)	C241*	probably null	Het
Or5d35	C	A	2: 87,855,265 (GRCm39)	H66Q	possibly damaging	Het
Or7g25	T	A	9: 19,160,567 (GRCm39)	I43F	probably benign	Het
Pcdhga12	T	C	18: 37,901,439 (GRCm39)	V757A	probably damaging	Het
Prpf31	A	G	7: 3,642,854 (GRCm39)	T448A	probably damaging	Het
Rbm6	A	T	9: 107,668,244 (GRCm39)	M694K	possibly damaging	Het
Ropn1l	T	C	15: 31,451,349 (GRCm39)	Y45C		Het
Selenbp1	T	A	3: 94,847,021 (GRCm39)	D182E	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Spef1	G	A	2: 131,014,653 (GRCm39)	R90W	probably damaging	Het
Sspo	A	G	6: 48,452,396 (GRCm39)	S2787G	probably benign	Het
Stox2	A	G	8: 47,645,271 (GRCm39)	S730P	possibly damaging	Het
Syne1	T	C	10: 5,078,434 (GRCm39)	N997S	probably benign	Het
Tipin	A	G	9: 64,195,508 (GRCm39)	D38G	probably benign	Het
Tshz1	T	A	18: 84,032,956 (GRCm39)	K484M	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	A	AAGTAC	6: 113,376,125 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,747,355 (GRCm39)	V4565I	probably benign	Het
Ubr7	A	G	12: 102,741,971 (GRCm39)	I402V	probably damaging	Het
Ucn3	A	T	13: 3,991,216 (GRCm39)	N145K	possibly damaging	Het
Utp18	A	T	11: 93,772,899 (GRCm39)		probably null	Het
Utp20	GAA	GA	10: 88,623,424 (GRCm39)		probably null	Het
Vmn1r189	A	G	13: 22,286,711 (GRCm39)	I42T	possibly damaging	Het
Vmn2r91	T	C	17: 18,326,429 (GRCm39)	M238T	probably damaging	Het
Washc5	G	T	15: 59,205,516 (GRCm39)	A1125D	probably benign	Het
Wsb2	A	G	5: 117,508,827 (GRCm39)	E87G	probably damaging	Het
Zfat	G	A	15: 68,084,600 (GRCm39)	P97L	probably benign	Het
Zfp87	T	G	13: 74,523,153 (GRCm39)	T22P	probably damaging	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
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
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'- CCCCTACTTTTGCTGAAGGC -3'
(R):5'- ATCATGAGCAACAGAGTCTGTAC -3'

Sequencing Primer
(F):5'- CCTACTTTTGCTGAAGGCTTAAC -3'
(R):5'- ACAGAGTCTGTACCCATCTGG -3'

Posted On

2019-09-13