Mutagenetix > Incidental Mutation

Incidental Mutation 'R6004:Or6c66b'

478523

Institutional Source

Beutler Lab

Gene Symbol

Or6c66b

Ensembl Gene

ENSMUSG00000094496

Gene Name

olfactory receptor family 6 subfamily C member 66B

Synonyms

Olfr792, MOR108-2, GA_x6K02T2PULF-11219415-11220350

MMRRC Submission

044182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129376408-129377343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129376759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 118 (Y118N)

Ref Sequence

ENSEMBL: ENSMUSP00000149872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076575] [ENSMUST00000215436]

AlphaFold

Q7TRH9

Predicted Effect

probably benign
Transcript: ENSMUST00000076575
AA Change: Y118N

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096707
Gene: ENSMUSG00000094496
AA Change: Y118N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215436
AA Change: Y118N

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	C	T	3: 97,082,997 (GRCm39)	A336V	probably benign	Het
Adam5	T	A	8: 25,271,685 (GRCm39)	Y574F	probably benign	Het
Arl6	A	T	16: 59,444,257 (GRCm39)	W80R	probably damaging	Het
Bmal1	A	T	7: 112,879,934 (GRCm39)	D22V	probably damaging	Het
Cars2	A	G	8: 11,597,743 (GRCm39)	I111T	probably damaging	Het
Chrd	T	C	16: 20,553,987 (GRCm39)	L317S	possibly damaging	Het
Cyp4a12b	A	G	4: 115,290,664 (GRCm39)	D262G	probably benign	Het
Dcaf6	A	G	1: 165,216,254 (GRCm39)	S450P	probably benign	Het
Dnah3	T	C	7: 119,685,520 (GRCm39)	D164G	probably benign	Het
Gpx6	A	C	13: 21,503,239 (GRCm39)	T218P	probably benign	Het
Htr1f	T	C	16: 64,746,239 (GRCm39)	N351S	probably damaging	Het
Idua	A	G	5: 108,828,510 (GRCm39)	E241G	probably benign	Het
Ighv14-2	T	A	12: 113,958,255 (GRCm39)	Q62L	probably damaging	Het
Ighv1-65	C	T	12: 115,496,056 (GRCm39)		noncoding transcript	Het
Inpp4a	T	C	1: 37,411,451 (GRCm39)	S372P	probably damaging	Het
Itgax	A	T	7: 127,730,624 (GRCm39)	H114L	probably damaging	Het
Lama2	A	T	10: 27,111,781 (GRCm39)	F746L	probably benign	Het
Lrrc37a	C	T	11: 103,393,362 (GRCm39)	V688M	possibly damaging	Het
Ltbp2	A	G	12: 84,922,923 (GRCm39)	V28A	probably benign	Het
Mill2	A	T	7: 18,590,463 (GRCm39)	D166V	probably benign	Het
Mroh2a	G	A	1: 88,176,377 (GRCm39)	C982Y	probably damaging	Het
Msh3	T	A	13: 92,478,922 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,980,062 (GRCm39)	M1395L	probably benign	Het
Npepps	T	C	11: 97,113,950 (GRCm39)	E642G	probably benign	Het
Nrg4	T	C	9: 55,166,667 (GRCm39)	T68A	possibly damaging	Het
Or10ag60	T	A	2: 87,438,253 (GRCm39)	F174I	probably damaging	Het
Or4b1d	T	C	2: 89,969,343 (GRCm39)	N47D	probably benign	Het
Or4f60	G	T	2: 111,902,371 (GRCm39)	L186I	probably damaging	Het
Or8b41	A	G	9: 38,055,256 (GRCm39)	K270R	probably damaging	Het
Or9g20	A	T	2: 85,629,726 (GRCm39)	V296E	probably damaging	Het
Otogl	T	A	10: 107,715,390 (GRCm39)	I429F	probably damaging	Het
Pank4	G	T	4: 155,061,678 (GRCm39)	G532C	probably damaging	Het
Plce1	A	G	19: 38,710,315 (GRCm39)	T1150A	probably damaging	Het
Ppp2r2b	T	C	18: 43,192,224 (GRCm39)		probably null	Het
Prkrip1	A	G	5: 136,226,636 (GRCm39)	M68T	probably damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Raet1d	T	A	10: 22,247,293 (GRCm39)	I123N	probably damaging	Het
Rp1	T	G	1: 4,267,808 (GRCm39)	T825P	unknown	Het
Rttn	T	C	18: 89,039,816 (GRCm39)	I839T	probably damaging	Het
Sgo2b	G	A	8: 64,379,707 (GRCm39)	Q1042*	probably null	Het
Skint11	A	G	4: 114,088,925 (GRCm39)	T240A	probably benign	Het
Speg	A	T	1: 75,392,247 (GRCm39)	K1382*	probably null	Het
Srsf7	A	T	17: 80,513,282 (GRCm39)	D68E	probably damaging	Het
Stag3	A	T	5: 138,287,468 (GRCm39)	D131V	probably damaging	Het
Strip2	T	A	6: 29,926,570 (GRCm39)	C152S	probably damaging	Het
Timm44	G	T	8: 4,317,747 (GRCm39)	D191E	probably benign	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trp63	T	C	16: 25,582,146 (GRCm39)		probably null	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Vmn2r10	T	G	5: 109,146,944 (GRCm39)	N448T	probably benign	Het
Vmn2r50	G	A	7: 9,783,986 (GRCm39)	R163C	probably benign	Het
Vmn2r53	T	C	7: 12,316,328 (GRCm39)	H497R	probably benign	Het
Vps39	A	G	2: 120,176,131 (GRCm39)	V83A	possibly damaging	Het
Ylpm1	A	T	12: 85,075,858 (GRCm39)	N861I	possibly damaging	Het
Zfp712	A	G	13: 67,189,769 (GRCm39)	C253R	probably damaging	Het
Zfp930	A	G	8: 69,680,556 (GRCm39)	T84A	probably benign	Het

Other mutations in Or6c66b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Or6c66b	APN	10	129,376,711 (GRCm39)	missense	probably benign	0.07
IGL01459:Or6c66b	APN	10	129,376,410 (GRCm39)	start codon destroyed	probably null	1.00
IGL02090:Or6c66b	APN	10	129,377,176 (GRCm39)	missense	probably damaging	1.00
IGL03338:Or6c66b	APN	10	129,376,925 (GRCm39)	missense	probably damaging	0.99
R0382:Or6c66b	UTSW	10	129,376,883 (GRCm39)	missense	probably benign	0.01
R1672:Or6c66b	UTSW	10	129,376,561 (GRCm39)	missense	probably benign	0.00
R2285:Or6c66b	UTSW	10	129,376,537 (GRCm39)	missense	probably benign	0.22
R2938:Or6c66b	UTSW	10	129,376,484 (GRCm39)	missense	probably damaging	1.00
R3498:Or6c66b	UTSW	10	129,376,778 (GRCm39)	missense	probably damaging	1.00
R5309:Or6c66b	UTSW	10	129,377,134 (GRCm39)	missense	probably benign	0.01
R5312:Or6c66b	UTSW	10	129,377,134 (GRCm39)	missense	probably benign	0.01
R6800:Or6c66b	UTSW	10	129,377,132 (GRCm39)	missense	probably damaging	1.00
R7127:Or6c66b	UTSW	10	129,376,936 (GRCm39)	missense	probably damaging	1.00
R7167:Or6c66b	UTSW	10	129,376,607 (GRCm39)	missense	possibly damaging	0.88
R7763:Or6c66b	UTSW	10	129,377,324 (GRCm39)	missense	probably benign
R7819:Or6c66b	UTSW	10	129,376,562 (GRCm39)	missense	probably benign	0.01
R8104:Or6c66b	UTSW	10	129,376,826 (GRCm39)	missense	probably benign
R8189:Or6c66b	UTSW	10	129,377,122 (GRCm39)	missense	probably damaging	0.99
R8672:Or6c66b	UTSW	10	129,376,596 (GRCm39)	missense	probably damaging	0.99
Z1189:Or6c66b	UTSW	10	129,377,246 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TCTGATAGATTCACACCTCAAGAC -3'
(R):5'- CTGTGCAAGAGATGAGCAGC -3'

Sequencing Primer
(F):5'- TAGATTCACACCTCAAGACACCCATG -3'
(R):5'- TCACAGGTGAAATGGTCAATAATG -3'

Posted On

2017-06-26