Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Or6c2'

589901

Institutional Source

Beutler Lab

Gene Symbol

Or6c2

Ensembl Gene

ENSMUSG00000047626

Gene Name

olfactory receptor family 6 subfamily C member 2

Synonyms

MOR114-1, Olfr791, GA_x6K02T2PULF-11205096-11206034

MMRRC Submission

045694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129362098-129363036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129362551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 152 (M152L)

Ref Sequence

ENSEMBL: ENSMUSP00000150497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]

AlphaFold

Q8VGJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000057477
AA Change: M152L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: M152L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	7.6e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4.3e-6	PFAM
Pfam:7tm_1	39	288	4.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217228
AA Change: M152L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,274,605 (GRCm39)	D236A	probably damaging	Het
Adamts7	C	T	9: 90,077,298 (GRCm39)	P1322S	probably damaging	Het
AI661453	A	T	17: 47,778,676 (GRCm39)	T801S	unknown	Het
Alpk1	A	G	3: 127,489,310 (GRCm39)	V123A	probably benign	Het
Ap2b1	T	C	11: 83,280,554 (GRCm39)	V827A	probably benign	Het
Aqp5	T	A	15: 99,492,059 (GRCm39)	I219N	probably benign	Het
Astn1	G	A	1: 158,495,105 (GRCm39)	W1051*	probably null	Het
Atp8b1	T	C	18: 64,706,376 (GRCm39)	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Bsn	A	G	9: 107,988,189 (GRCm39)	V2521A	unknown	Het
Car7	T	C	8: 105,275,069 (GRCm39)	V169A	probably damaging	Het
Catip	T	A	1: 74,408,121 (GRCm39)	D484E	unknown	Het
Ccdc18	T	C	5: 108,376,915 (GRCm39)		probably null	Het
Cdyl	T	C	13: 36,055,634 (GRCm39)	V518A	probably damaging	Het
Cep350	A	T	1: 155,754,767 (GRCm39)	C1949*	probably null	Het
Cinp	A	G	12: 110,850,447 (GRCm39)	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,315,314 (GRCm39)	C103R	probably damaging	Het
Cplane1	A	G	15: 8,256,404 (GRCm39)	I1955V	probably benign	Het
Dnah8	G	C	17: 31,004,081 (GRCm39)	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 152,053,068 (GRCm39)	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,039,566 (GRCm39)	M2101K	probably benign	Het
Ephb4	A	G	5: 137,370,365 (GRCm39)	D864G	probably damaging	Het
Fads2b	T	A	2: 85,330,581 (GRCm39)	H242L	probably benign	Het
Fkbp5	T	C	17: 28,647,335 (GRCm39)	T167A	probably benign	Het
Foxf2	C	A	13: 31,810,087 (GRCm39)	P9T	unknown	Het
Frmpd2	C	A	14: 33,222,920 (GRCm39)	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,357,434 (GRCm39)	R270S	probably damaging	Het
Galnt13	A	G	2: 54,747,829 (GRCm39)	I237V	probably damaging	Het
Gata5	G	T	2: 179,975,790 (GRCm39)	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,966,346 (GRCm39)	F166I	possibly damaging	Het
Gon4l	A	G	3: 88,802,413 (GRCm39)	N1008S	probably benign	Het
Got1l1	G	A	8: 27,687,962 (GRCm39)	L356F	probably damaging	Het
Gse1	A	G	8: 121,299,634 (GRCm39)	E888G	unknown	Het
Hmx1	C	A	5: 35,549,583 (GRCm39)	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,036,138 (GRCm39)	S16T	probably benign	Het
Itga2b	C	T	11: 102,352,582 (GRCm39)	G424D	probably damaging	Het
Itga6	A	T	2: 71,673,577 (GRCm39)	K870N	probably benign	Het
Lama4	A	T	10: 38,968,184 (GRCm39)	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,124,806 (GRCm39)	R655H	probably damaging	Het
Lclat1	C	T	17: 73,468,931 (GRCm39)	S37L	probably benign	Het
Lrp1b	A	G	2: 41,013,609 (GRCm39)		probably null	Het
Map3k20	T	C	2: 72,232,348 (GRCm39)	S335P	probably benign	Het
Micu3	A	G	8: 40,819,275 (GRCm39)	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382 (GRCm39)	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,335 (GRCm39)	I168L	probably benign	Het
Mpp3	T	C	11: 101,916,209 (GRCm39)	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,359,413 (GRCm39)	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,359,490 (GRCm39)	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,729,718 (GRCm39)	M119L	probably benign	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nek10	G	A	14: 14,850,932 (GRCm38)	V326M	probably benign	Het
Or11l3	T	A	11: 58,515,990 (GRCm39)	E107D	unknown	Het
Or6z1	G	A	7: 6,504,581 (GRCm39)	L221F	probably benign	Het
Pcnx1	A	G	12: 81,965,899 (GRCm39)	T161A		Het
Peg10	T	C	6: 4,754,938 (GRCm39)	S240P	probably damaging	Het
Pex6	G	A	17: 47,034,943 (GRCm39)	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Pld5	A	T	1: 175,821,416 (GRCm39)		probably null	Het
Plxna4	A	G	6: 32,473,676 (GRCm39)	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,144,283 (GRCm39)	S66P	probably benign	Het
Pramel26	T	C	4: 143,536,987 (GRCm39)	E448G	probably damaging	Het
Prl2c2	T	C	13: 13,171,928 (GRCm39)	D147G	probably damaging	Het
Prune1	A	G	3: 95,162,596 (GRCm39)	L359P	probably damaging	Het
Rab4b	A	T	7: 26,875,642 (GRCm39)	V13E	probably damaging	Het
Rbbp6	T	G	7: 122,575,231 (GRCm39)	V80G	possibly damaging	Het
Reep5	C	T	18: 34,482,853 (GRCm39)	G119S	possibly damaging	Het
Rem1	G	C	2: 152,476,585 (GRCm39)	R281P	probably damaging	Het
Rnf215	C	T	11: 4,089,989 (GRCm39)	R309C	probably damaging	Het
Scn4a	C	A	11: 106,215,458 (GRCm39)	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,910,464 (GRCm39)	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,289,046 (GRCm39)	V67A	probably damaging	Het
Smco2	A	T	6: 146,761,507 (GRCm39)	E142V	possibly damaging	Het
Spata25	G	A	2: 164,669,889 (GRCm39)	P41S	probably benign	Het
Specc1l	A	G	10: 75,112,638 (GRCm39)	D955G	probably damaging	Het
Spns3	C	T	11: 72,429,860 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,794,235 (GRCm39)	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,189,253 (GRCm39)		probably null	Het
Tas2r107	G	T	6: 131,636,563 (GRCm39)	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,959,774 (GRCm39)	S139P	probably benign	Het
Tecta	C	T	9: 42,242,283 (GRCm39)	V2102I	probably benign	Het
Tmem131	A	T	1: 36,911,629 (GRCm39)	I106K	probably damaging	Het
Tpbpb	A	G	13: 61,049,925 (GRCm39)	V68A	probably benign	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Ttn	T	C	2: 76,580,021 (GRCm39)	N23624S	probably damaging	Het
Tut7	T	C	13: 59,947,904 (GRCm39)	K806E	probably benign	Het
Usp2	T	C	9: 43,978,519 (GRCm39)		probably null	Het
Vmn1r10	A	G	6: 57,091,026 (GRCm39)	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,449,479 (GRCm39)	I131T	probably damaging	Het
Vwf	G	T	6: 125,659,697 (GRCm39)	R2632L		Het
Wdr36	T	C	18: 32,983,578 (GRCm39)	L443P	probably benign	Het
Zfp143	T	C	7: 109,688,025 (GRCm39)	V489A	probably benign	Het
Zfp383	G	A	7: 29,614,696 (GRCm39)	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,766,368 (GRCm39)	T839A	probably damaging	Het

Other mutations in Or6c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Or6c2	APN	10	129,362,864 (GRCm39)	missense	probably damaging	0.97
IGL03034:Or6c2	APN	10	129,362,527 (GRCm39)	missense	probably benign
IGL03281:Or6c2	APN	10	129,362,272 (GRCm39)	missense	probably benign	0.31
R0555:Or6c2	UTSW	10	129,362,765 (GRCm39)	missense	possibly damaging	0.90
R1474:Or6c2	UTSW	10	129,362,824 (GRCm39)	missense	probably benign	0.03
R1638:Or6c2	UTSW	10	129,362,488 (GRCm39)	missense	probably benign	0.00
R1917:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
R1918:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
R1919:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably damaging	0.99
R2303:Or6c2	UTSW	10	129,362,918 (GRCm39)	missense	probably benign	0.10
R3113:Or6c2	UTSW	10	129,363,012 (GRCm39)	missense	probably benign	0.08
R3929:Or6c2	UTSW	10	129,362,100 (GRCm39)	start codon destroyed	probably null	1.00
R4704:Or6c2	UTSW	10	129,362,171 (GRCm39)	missense	possibly damaging	0.90
R4831:Or6c2	UTSW	10	129,362,449 (GRCm39)	missense	probably damaging	1.00
R5207:Or6c2	UTSW	10	129,362,773 (GRCm39)	missense	probably benign	0.08
R5313:Or6c2	UTSW	10	129,362,950 (GRCm39)	missense	probably damaging	1.00
R5644:Or6c2	UTSW	10	129,362,972 (GRCm39)	missense	probably damaging	1.00
R5661:Or6c2	UTSW	10	129,362,618 (GRCm39)	missense	probably benign	0.45
R5894:Or6c2	UTSW	10	129,362,357 (GRCm39)	missense	probably damaging	0.98
R6988:Or6c2	UTSW	10	129,362,542 (GRCm39)	missense	probably benign	0.02
R6996:Or6c2	UTSW	10	129,362,732 (GRCm39)	missense	probably damaging	1.00
R7380:Or6c2	UTSW	10	129,362,530 (GRCm39)	missense	probably benign
R7539:Or6c2	UTSW	10	129,362,974 (GRCm39)	nonsense	probably null
R7552:Or6c2	UTSW	10	129,362,429 (GRCm39)	missense	possibly damaging	0.95
R8084:Or6c2	UTSW	10	129,362,809 (GRCm39)	missense	probably damaging	1.00
R8260:Or6c2	UTSW	10	129,362,957 (GRCm39)	missense	possibly damaging	0.55
R8755:Or6c2	UTSW	10	129,362,332 (GRCm39)	missense	possibly damaging	0.60
X0066:Or6c2	UTSW	10	129,362,614 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATCACCTATAATGCTTGTGC -3'
(R):5'- GCAGAAGGGAATCTCAGAATTGTTC -3'

Sequencing Primer
(F):5'- GGCAGCTATGTCCTATGA -3'
(R):5'- ACACAGATTAGGGTAATAATGAGTGC -3'

Posted On

2019-10-24