Mutagenetix > Incidental Mutation

Incidental Mutation 'R9478:Or6c6'

715939

Institutional Source

Beutler Lab

Gene Symbol

Or6c6

Ensembl Gene

ENSMUSG00000095075

Gene Name

olfactory receptor family 6 subfamily C member 6

Synonyms

MOR110-8, GA_x6K02T2PULF-11031172-11032116, Olfr782

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9478 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

129186434-129187378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129186960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 176 (M176K)

Ref Sequence

ENSEMBL: ENSMUSP00000150951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077024] [ENSMUST00000213970]

AlphaFold

Q7TRI2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077024
AA Change: M176K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076282
Gene: ENSMUSG00000095075
AA Change: M176K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-48	PFAM
Pfam:7tm_1	39	288	8.5e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213970
AA Change: M176K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,451,573 (GRCm39)	I886F	possibly damaging	Het
3100002H09Rik	A	G	4: 124,504,151 (GRCm39)	S134P	unknown	Het
Abcf2	A	G	5: 24,770,940 (GRCm39)	L604P	possibly damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg14	G	T	14: 47,783,138 (GRCm39)	H373Q	probably damaging	Het
Atmin	C	T	8: 117,681,537 (GRCm39)	H179Y	probably damaging	Het
Catsperg1	G	T	7: 28,897,777 (GRCm39)	P197T	possibly damaging	Het
Ccdc7b	C	T	8: 129,837,473 (GRCm39)	Q155*	probably null	Het
Cep85l	T	G	10: 53,224,875 (GRCm39)	E238A	possibly damaging	Het
Cfap119	T	C	7: 127,184,087 (GRCm39)		probably null	Het
Cntln	G	A	4: 84,897,630 (GRCm39)	V406I	probably benign	Het
Csf2rb2	C	A	15: 78,168,965 (GRCm39)	G730V	probably benign	Het
Cyp3a59	T	A	5: 146,034,997 (GRCm39)	L225Q	probably damaging	Het
Dock1	T	A	7: 134,367,962 (GRCm39)	F511I	probably damaging	Het
Dsg1b	A	T	18: 20,531,008 (GRCm39)	Y453F		Het
Dync1h1	T	C	12: 110,625,137 (GRCm39)	F3829L	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Esco2	C	A	14: 66,068,657 (GRCm39)	G218*	probably null	Het
Gale	C	T	4: 135,692,574 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hgf	A	G	5: 16,766,029 (GRCm39)	D55G	possibly damaging	Het
Il17ra	A	G	6: 120,451,336 (GRCm39)	D170G	possibly damaging	Het
Inha	A	G	1: 75,486,562 (GRCm39)	S286G	probably benign	Het
Kif1b	C	T	4: 149,345,616 (GRCm39)		probably null	Het
Klhl24	T	G	16: 19,941,763 (GRCm39)	S570R	possibly damaging	Het
Krt87	G	A	15: 101,385,449 (GRCm39)	R308W	probably benign	Het
Lama2	T	A	10: 26,891,478 (GRCm39)	E2545V	probably damaging	Het
Lztfl1	T	C	9: 123,537,167 (GRCm39)	K165E	possibly damaging	Het
Mab21l3	A	T	3: 101,725,987 (GRCm39)	D336E	probably damaging	Het
Matn2	T	C	15: 34,345,242 (GRCm39)	I83T	probably damaging	Het
Mfsd9	T	C	1: 40,812,941 (GRCm39)	D458G	probably benign	Het
Ncbp3	A	G	11: 72,968,768 (GRCm39)	D513G	probably damaging	Het
Neb	T	A	2: 52,078,788 (GRCm39)	K5818N	probably benign	Het
Nol4	G	A	18: 23,053,934 (GRCm39)	P120S	probably damaging	Het
Oit3	C	A	10: 59,274,464 (GRCm39)	C112F	probably damaging	Het
Or11g27	A	T	14: 50,771,051 (GRCm39)	T61S	probably benign	Het
Or4b1	C	A	2: 89,979,595 (GRCm39)	A252S	possibly damaging	Het
Or5p52	G	A	7: 107,502,238 (GRCm39)	V105M	probably damaging	Het
Pank4	G	A	4: 155,064,565 (GRCm39)	R708Q	probably benign	Het
Plch1	T	A	3: 63,606,825 (GRCm39)	L1026F	probably benign	Het
Poglut3	T	C	9: 53,303,236 (GRCm39)	F232L	probably damaging	Het
Ptpn3	A	T	4: 57,197,573 (GRCm39)	I772N	probably damaging	Het
Purb	A	G	11: 6,425,424 (GRCm39)	F155L	probably damaging	Het
Rcor2	C	T	19: 7,248,794 (GRCm39)	R256W	probably damaging	Het
Rp1	A	G	1: 4,417,545 (GRCm39)	L1189P	probably benign	Het
Scn1a	T	C	2: 66,156,493 (GRCm39)	E472G	probably benign	Het
Sema3e	T	C	5: 14,286,386 (GRCm39)	Y536H	probably damaging	Het
Serpina3n	A	T	12: 104,378,672 (GRCm39)	I331F	possibly damaging	Het
Sertad3	T	C	7: 27,175,679 (GRCm39)	S38P	probably damaging	Het
Sfrp4	G	T	13: 19,807,610 (GRCm39)	R3L	unknown	Het
Slc35a5	T	C	16: 44,964,426 (GRCm39)	E269G	probably damaging	Het
Snrnp200	G	A	2: 127,076,993 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,694,615 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,154,387 (GRCm39)	K2020E	probably damaging	Het
Tcp10a	A	T	17: 7,601,740 (GRCm39)	T247S	probably benign	Het
Tgds	T	C	14: 118,352,544 (GRCm39)	D290G	possibly damaging	Het
Trav7d-3	A	T	14: 52,982,054 (GRCm39)	I32F	possibly damaging	Het
Vps41	A	G	13: 19,046,913 (GRCm39)	N788D		Het
Zfp521	G	A	18: 13,950,372 (GRCm39)	T1194I	probably damaging	Het
Zmynd8	C	A	2: 165,649,569 (GRCm39)	K841N	probably damaging	Het

Other mutations in Or6c6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Or6c6	APN	10	129,186,519 (GRCm39)	missense	probably damaging	1.00
IGL01469:Or6c6	APN	10	129,186,449 (GRCm39)	missense	probably benign
IGL01980:Or6c6	APN	10	129,187,386 (GRCm39)	utr 3 prime	probably benign
IGL03309:Or6c6	APN	10	129,187,178 (GRCm39)	missense	probably benign	0.01
R0449:Or6c6	UTSW	10	129,187,103 (GRCm39)	missense	probably benign	0.00
R1994:Or6c6	UTSW	10	129,186,561 (GRCm39)	missense	probably damaging	1.00
R3121:Or6c6	UTSW	10	129,186,552 (GRCm39)	missense	possibly damaging	0.74
R6421:Or6c6	UTSW	10	129,187,370 (GRCm39)	nonsense	probably null
R7268:Or6c6	UTSW	10	129,187,263 (GRCm39)	missense	possibly damaging	0.60
R7399:Or6c6	UTSW	10	129,186,426 (GRCm39)	start gained	probably benign
R7647:Or6c6	UTSW	10	129,187,326 (GRCm39)	missense	probably benign
R8384:Or6c6	UTSW	10	129,186,695 (GRCm39)	nonsense	probably null
R8795:Or6c6	UTSW	10	129,187,194 (GRCm39)	missense	probably damaging	0.99
R9224:Or6c6	UTSW	10	129,186,450 (GRCm39)	missense	probably benign
R9375:Or6c6	UTSW	10	129,186,989 (GRCm39)	missense	probably damaging	1.00
X0027:Or6c6	UTSW	10	129,187,202 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTTGCTGGGAGTCACAG -3'
(R):5'- ACAACAATCATGTGGGAAGTGC -3'

Sequencing Primer
(F):5'- GGAGTCACAGAATTTTATCTCCTGGC -3'
(R):5'- CAATCATGTGGGAAGTGCAGGTG -3'

Posted On

2022-06-15