Mutagenetix > Incidental Mutation

Incidental Mutation 'R4730:Or6c33'

358775

Institutional Source

Beutler Lab

Gene Symbol

Or6c33

Ensembl Gene

ENSMUSG00000048745

Gene Name

olfactory receptor family 6 subfamily C member 33

Synonyms

GA_x6K02T2PULF-11688441-11689379, Olfr820, MOR116-1

MMRRC Submission

041990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129853232-129854170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129853416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 62 (R62Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059244] [ENSMUST00000214917] [ENSMUST00000215791]

AlphaFold

Q8VFU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059244
AA Change: R62Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: R62Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-47	PFAM
Pfam:7tm_1	39	288	1.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214917
AA Change: R62Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215791
AA Change: R62Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2212

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (70/71)

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
Aff1	A	G	5: 103,990,939 (GRCm39)	Q963R	possibly damaging	Het
Arhgef28	C	T	13: 98,114,650 (GRCm39)	E645K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Col4a2	A	G	8: 11,487,590 (GRCm39)	N964S	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Duox1	T	G	2: 122,164,312 (GRCm39)	L924R	probably damaging	Het
Edem2	T	C	2: 155,547,618 (GRCm39)	E398G	possibly damaging	Het
Engase	A	G	11: 118,373,748 (GRCm39)	N297D	probably damaging	Het
Esp4	A	C	17: 40,913,445 (GRCm39)	Y104S	unknown	Het
Esp4	C	A	17: 40,913,446 (GRCm39)	Y104*	probably null	Het
Fat1	A	T	8: 45,486,514 (GRCm39)	N3356I	probably damaging	Het
Gm3867	T	A	9: 36,168,550 (GRCm39)		noncoding transcript	Het
Gm6818	C	T	7: 38,101,918 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,762,693 (GRCm39)	*175W	probably null	Het
Gucy1b2	A	G	14: 62,645,208 (GRCm39)	V617A	probably damaging	Het
Gzmc	C	T	14: 56,469,089 (GRCm39)	C210Y	probably damaging	Het
Hmg20a	T	A	9: 56,374,703 (GRCm39)	S20T	possibly damaging	Het
Hs3st1	A	T	5: 39,772,148 (GRCm39)	L165*	probably null	Het
Ighv1-26	A	G	12: 114,752,409 (GRCm39)	I6T	probably benign	Het
Kcnk13	A	G	12: 100,027,974 (GRCm39)	K350E	probably damaging	Het
Lin9	T	A	1: 180,493,416 (GRCm39)	L198*	probably null	Het
Lrfn5	C	T	12: 61,887,505 (GRCm39)	A431V	probably benign	Het
Lta	C	T	17: 35,423,065 (GRCm39)	R86Q	probably benign	Het
Map3k4	T	A	17: 12,467,861 (GRCm39)	I1058L	probably damaging	Het
Mtif2	T	A	11: 29,490,834 (GRCm39)	S513T	probably benign	Het
Muc4	C	T	16: 32,570,032 (GRCm39)	T364I	possibly damaging	Het
Nav1	C	A	1: 135,535,049 (GRCm39)		probably benign	Het
Nfrkb	T	C	9: 31,321,547 (GRCm39)	V748A	probably benign	Het
Obox6	A	T	7: 15,568,738 (GRCm39)	M46K	possibly damaging	Het
Or5g25	T	C	2: 85,478,336 (GRCm39)	T110A	probably benign	Het
Or5k1b	T	C	16: 58,581,105 (GRCm39)	I145V	probably benign	Het
Or5t17	C	T	2: 86,832,510 (GRCm39)	R66W	possibly damaging	Het
Or9g19	G	T	2: 85,600,405 (GRCm39)	E87*	probably null	Het
P4htm	A	G	9: 108,456,971 (GRCm39)	V412A	possibly damaging	Het
Phb2	T	C	6: 124,690,086 (GRCm39)	S92P	probably damaging	Het
Phtf1	G	T	3: 103,894,751 (GRCm39)	R147L	probably damaging	Het
Pigk	C	T	3: 152,448,203 (GRCm39)	Q189*	probably null	Het
Plxnc1	G	A	10: 94,703,330 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Ptprg	G	A	14: 12,213,713 (GRCm38)	G252D	probably damaging	Het
Rnf4	G	T	5: 34,508,147 (GRCm39)	V134F	possibly damaging	Het
Scarf2	A	G	16: 17,620,877 (GRCm39)	T182A	probably damaging	Het
Setd1a	A	G	7: 127,396,502 (GRCm39)		probably benign	Het
Sgpp1	A	G	12: 75,781,713 (GRCm39)	F209L	probably benign	Het
Sh3d19	T	A	3: 86,024,171 (GRCm39)	S567T	possibly damaging	Het
Slc4a2	C	T	5: 24,639,878 (GRCm39)	R520W	probably damaging	Het
Slf1	T	C	13: 77,194,751 (GRCm39)	Q858R	probably damaging	Het
Slitrk3	G	T	3: 72,956,852 (GRCm39)	A640E	probably benign	Het
Smarca2	A	G	19: 26,608,073 (GRCm39)	Y44C	probably damaging	Het
Spon1	A	G	7: 113,632,306 (GRCm39)	E543G	possibly damaging	Het
Strn4	A	G	7: 16,562,719 (GRCm39)	Q286R	possibly damaging	Het
Suz12	T	C	11: 79,892,988 (GRCm39)		probably benign	Het
Syna	T	A	5: 134,587,440 (GRCm39)	E503V	probably damaging	Het
Syt14	C	T	1: 192,613,094 (GRCm39)	D569N	probably damaging	Het
Sytl2	A	G	7: 90,030,457 (GRCm39)		probably benign	Het
Tmprss11g	G	T	5: 86,637,091 (GRCm39)	S335*	probably null	Het
Tmprss11g	A	T	5: 86,637,092 (GRCm39)	S335T	probably damaging	Het
Trim66	A	G	7: 109,082,276 (GRCm39)	S226P	probably damaging	Het
Tubgcp3	T	C	8: 12,707,654 (GRCm39)	T112A	probably benign	Het
Ulk4	T	C	9: 121,092,791 (GRCm39)	S149G	probably benign	Het
Usp53	T	C	3: 122,756,582 (GRCm39)	D108G	probably null	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het

Other mutations in Or6c33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or6c33	APN	10	129,853,710 (GRCm39)	missense	probably damaging	0.98
IGL01938:Or6c33	APN	10	129,853,981 (GRCm39)	nonsense	probably null
IGL02369:Or6c33	APN	10	129,853,425 (GRCm39)	missense	possibly damaging	0.81
R0378:Or6c33	UTSW	10	129,853,872 (GRCm39)	missense	probably damaging	1.00
R0437:Or6c33	UTSW	10	129,853,965 (GRCm39)	missense	probably damaging	1.00
R0648:Or6c33	UTSW	10	129,853,350 (GRCm39)	missense	probably damaging	1.00
R1891:Or6c33	UTSW	10	129,853,439 (GRCm39)	missense	probably damaging	1.00
R2187:Or6c33	UTSW	10	129,853,557 (GRCm39)	missense	probably damaging	1.00
R4190:Or6c33	UTSW	10	129,853,847 (GRCm39)	missense	probably damaging	0.96
R6380:Or6c33	UTSW	10	129,853,782 (GRCm39)	missense	probably benign	0.18
R6496:Or6c33	UTSW	10	129,853,448 (GRCm39)	missense	probably benign	0.13
R7198:Or6c33	UTSW	10	129,853,760 (GRCm39)	missense	probably damaging	1.00
R7667:Or6c33	UTSW	10	129,853,403 (GRCm39)	missense	probably damaging	1.00
R7762:Or6c33	UTSW	10	129,853,050 (GRCm39)	intron	probably benign
R7823:Or6c33	UTSW	10	129,854,136 (GRCm39)	missense	probably benign	0.00
R8472:Or6c33	UTSW	10	129,853,445 (GRCm39)	missense	probably damaging	1.00
R8931:Or6c33	UTSW	10	129,853,769 (GRCm39)	missense	possibly damaging	0.81
R9536:Or6c33	UTSW	10	129,853,345 (GRCm39)	missense	probably benign	0.01
R9563:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9564:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9565:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9624:Or6c33	UTSW	10	129,853,866 (GRCm39)	missense	possibly damaging	0.94
R9630:Or6c33	UTSW	10	129,853,410 (GRCm39)	missense	probably damaging	1.00
R9652:Or6c33	UTSW	10	129,853,809 (GRCm39)	missense	possibly damaging	0.95
Z1177:Or6c33	UTSW	10	129,853,854 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGAAGTTAAAGATGGCAAACC -3'
(R):5'- CTCATGATAGTTGTGTAATGCAGG -3'

Sequencing Primer
(F):5'- CAACCTTCAAGCTGTGCT -3'
(R):5'- AACATAGCGGTCATAGGACATCACTG -3'

Posted On

2015-11-11