Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Or6c217'

213829

Institutional Source

Beutler Lab

Gene Symbol

Or6c217

Ensembl Gene

ENSMUSG00000061961

Gene Name

olfactory receptor family 6 subfamily C member 217

Synonyms

Olfr815, MOR113-3, GA_x6K02T2PULF-11581263-11580331

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129737645-129738595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129737970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 203 (M203R)

Ref Sequence

ENSEMBL: ENSMUSP00000151146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071557] [ENSMUST00000205013] [ENSMUST00000216182]

AlphaFold

Q8VFU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071557
AA Change: M209R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071488
Gene: ENSMUSG00000061961
AA Change: M209R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	4.2e-45	PFAM
Pfam:7tm_1	45	294	1.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205013
AA Change: M203R

SMART Domains

Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: M203R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.3e-44	PFAM
Pfam:7tm_1	39	288	4.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216182
AA Change: M203R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,130 (GRCm39)	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,207,186 (GRCm39)		probably null	Het
4933409G03Rik	T	C	2: 68,419,328 (GRCm39)	S26P	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acot3	A	G	12: 84,105,325 (GRCm39)	N264S	probably benign	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam22	A	T	5: 8,380,015 (GRCm39)	F94L	probably damaging	Het
Adarb2	T	C	13: 8,253,358 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,802,755 (GRCm39)	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,361,220 (GRCm39)	C785*	probably null	Het
Birc6	T	C	17: 74,977,332 (GRCm39)	S4362P	probably damaging	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,895,073 (GRCm39)	H115R	probably benign	Het
Col23a1	A	G	11: 51,442,816 (GRCm39)	D159G	unknown	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Dnase2a	G	T	8: 85,637,524 (GRCm39)	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Engase	T	A	11: 118,370,012 (GRCm39)	N97K	probably damaging	Het
Fam83b	A	T	9: 76,400,362 (GRCm39)	M247K	probably damaging	Het
Fer	T	C	17: 64,280,123 (GRCm39)	S65P	probably damaging	Het
Fgf10	A	G	13: 118,925,688 (GRCm39)	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm904	T	C	13: 50,798,772 (GRCm39)		probably null	Het
Gpat2	T	A	2: 127,277,879 (GRCm39)	*802K	probably null	Het
Hcfc2	G	T	10: 82,538,284 (GRCm39)	R107L	probably damaging	Het
Itga8	T	G	2: 12,305,657 (GRCm39)	D111A	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lgals8	T	G	13: 12,474,069 (GRCm39)	I10L	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Mcpt1	A	T	14: 56,256,546 (GRCm39)	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,322,920 (GRCm39)	F384S	probably damaging	Het
Mrgprb5	A	T	7: 47,818,686 (GRCm39)	N16K	probably benign	Het
Myo15b	A	G	11: 115,778,529 (GRCm39)	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,794,801 (GRCm39)	I53R	possibly damaging	Het
Nav1	A	T	1: 135,393,636 (GRCm39)	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,459,379 (GRCm39)	Y54C	probably damaging	Het
Or10j3b	G	T	1: 173,043,499 (GRCm39)	A94S	probably benign	Het
Or5p58	A	G	7: 107,694,348 (GRCm39)	V143A	probably benign	Het
Or8b35	A	G	9: 37,904,385 (GRCm39)	N199S	probably benign	Het
Or8c15	T	A	9: 38,120,725 (GRCm39)	Y72*	probably null	Het
Osbpl8	A	T	10: 111,125,672 (GRCm39)	H784L	probably benign	Het
Osr1	T	G	12: 9,629,687 (GRCm39)	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,772,921 (GRCm39)	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,889,927 (GRCm39)	T400A	probably damaging	Het
Pms1	A	C	1: 53,236,135 (GRCm39)	L715R	probably damaging	Het
Prkd1	T	C	12: 50,441,777 (GRCm39)	N254S	probably benign	Het
Prkdc	T	C	16: 15,653,777 (GRCm39)	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,769,560 (GRCm39)	N435S	probably benign	Het
Purb	T	C	11: 6,424,943 (GRCm39)	E315G	unknown	Het
Rap1b	A	T	10: 117,654,491 (GRCm39)	N116K	probably damaging	Het
Rmc1	T	C	18: 12,313,562 (GRCm39)	L15P	probably damaging	Het
Rp1l1	A	G	14: 64,267,042 (GRCm39)	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,816,834 (GRCm39)	I114F	probably damaging	Het
Semp2l1	T	C	1: 32,584,627 (GRCm39)	I428V	probably damaging	Het
Sh3bp2	A	G	5: 34,708,963 (GRCm39)	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,208,317 (GRCm39)	M276V	probably benign	Het
Slc17a1	A	G	13: 24,059,864 (GRCm39)	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581 (GRCm38)	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,078,956 (GRCm39)	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St3gal6	A	T	16: 58,293,924 (GRCm39)		probably null	Het
Tdp2	A	G	13: 25,025,260 (GRCm39)	D343G	probably benign	Het
Tecpr2	T	A	12: 110,899,603 (GRCm39)	L657Q	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,248,426 (GRCm39)	F28I	probably damaging	Het
Trim32	G	A	4: 65,532,303 (GRCm39)	V287I	probably benign	Het
Trpd52l3	T	C	19: 29,981,289 (GRCm39)	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 106,566,670 (GRCm39)	I169V	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,830,765 (GRCm39)	Q18L	probably null	Het
Ttll8	A	T	15: 88,799,689 (GRCm39)	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ucp3	T	C	7: 100,129,871 (GRCm39)	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,453,532 (GRCm39)	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,339,852 (GRCm39)	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,305,976 (GRCm39)	D393G	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp976	C	A	7: 42,263,105 (GRCm39)	C244F	unknown	Het
Zmym5	A	G	14: 57,036,577 (GRCm39)	V190A	probably damaging	Het

Other mutations in Or6c217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Or6c217	APN	10	129,738,528 (GRCm39)	missense	possibly damaging	0.94
IGL01901:Or6c217	APN	10	129,737,722 (GRCm39)	missense	probably benign	0.19
IGL02687:Or6c217	APN	10	129,737,971 (GRCm39)	missense	probably benign	0.00
IGL02932:Or6c217	APN	10	129,738,287 (GRCm39)	nonsense	probably null
IGL03327:Or6c217	APN	10	129,738,451 (GRCm39)	missense	possibly damaging	0.87
R0894:Or6c217	UTSW	10	129,737,751 (GRCm39)	missense	probably damaging	0.97
R1299:Or6c217	UTSW	10	129,737,946 (GRCm39)	missense	probably benign	0.32
R1544:Or6c217	UTSW	10	129,738,293 (GRCm39)	nonsense	probably null
R2379:Or6c217	UTSW	10	129,737,781 (GRCm39)	missense	probably damaging	0.99
R2435:Or6c217	UTSW	10	129,738,173 (GRCm39)	missense	possibly damaging	0.52
R2566:Or6c217	UTSW	10	129,737,964 (GRCm39)	missense	probably damaging	1.00
R2892:Or6c217	UTSW	10	129,737,809 (GRCm39)	missense	possibly damaging	0.60
R2905:Or6c217	UTSW	10	129,738,269 (GRCm39)	missense	possibly damaging	0.93
R4552:Or6c217	UTSW	10	129,737,992 (GRCm39)	missense	probably benign	0.00
R6566:Or6c217	UTSW	10	129,737,947 (GRCm39)	missense	probably benign	0.00
R6988:Or6c217	UTSW	10	129,738,278 (GRCm39)	missense	probably damaging	0.98
R7671:Or6c217	UTSW	10	129,738,222 (GRCm39)	missense	probably damaging	1.00
Z1088:Or6c217	UTSW	10	129,738,552 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GAGCACAGCTATTCCTTTGCTC -3'
(R):5'- CATCAGCTTGTCCTGGGTTC -3'

Sequencing Primer
(F):5'- AAGTCACTCTTTCATTTGCTGAAGGC -3'
(R):5'- CTTGGGTAACTGGATTCCTGG -3'

Posted On

2014-07-14