Mutagenetix > Incidental Mutation

Incidental Mutation 'R5661:Or6c2'

444094

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

043304-MU

Accession Numbers

Essential gene?

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

Stock #

R5661 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129362098-129363036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129362618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 174 (H174L)

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: H174L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: H174L

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: H174L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.3957

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	G	6: 83,497,754 (GRCm39)	I166T	probably damaging	Het
Actn1	T	C	12: 80,231,618 (GRCm39)	E273G	probably benign	Het
Arhgap15	G	A	2: 44,212,739 (GRCm39)	R403H	possibly damaging	Het
Arhgef26	T	C	3: 62,285,075 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,702,087 (GRCm39)	R81*	probably null	Het
Brd3	G	A	2: 27,351,584 (GRCm39)	T223I	possibly damaging	Het
Cacna2d4	T	C	6: 119,320,492 (GRCm39)	M890T	probably benign	Het
Carm1	A	G	9: 21,498,295 (GRCm39)	D433G	probably benign	Het
Ccdc40	A	G	11: 119,128,753 (GRCm39)	K427E	probably benign	Het
Ccdc80	T	C	16: 44,947,808 (GRCm39)	Y929H	probably damaging	Het
Ccr9	A	C	9: 123,609,164 (GRCm39)	Y282S	probably benign	Het
Det1	C	T	7: 78,492,958 (GRCm39)	E349K	probably damaging	Het
Enpep	T	A	3: 129,070,406 (GRCm39)	N834Y	probably damaging	Het
Epha7	A	T	4: 28,946,217 (GRCm39)		probably null	Het
Fap	A	T	2: 62,367,307 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,053 (GRCm39)	C23R	probably benign	Het
Gad1-ps	T	C	10: 99,280,901 (GRCm39)		noncoding transcript	Het
Gli2	C	A	1: 118,781,032 (GRCm39)	E238*	probably null	Het
Gm20939	C	A	17: 95,183,207 (GRCm39)	H148N	probably damaging	Het
Gnl1	T	C	17: 36,293,447 (GRCm39)	Y211H	probably benign	Het
Gpat3	A	T	5: 101,033,808 (GRCm39)	K221*	probably null	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hnrnph1	A	T	11: 50,275,507 (GRCm39)	Q415L	probably benign	Het
Kansl3	T	C	1: 36,388,038 (GRCm39)	E383G	possibly damaging	Het
Kdm5b	T	C	1: 134,526,811 (GRCm39)	V311A	probably benign	Het
Lipk	T	A	19: 34,009,727 (GRCm39)	M215K	probably benign	Het
Madd	A	G	2: 90,984,778 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,700,744 (GRCm39)	E88G	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,626 (GRCm39)	S713T	probably benign	Het
Mocos	T	A	18: 24,799,052 (GRCm39)		probably null	Het
Msto1	T	A	3: 88,820,192 (GRCm39)	D88V	possibly damaging	Het
Myo5a	A	G	9: 75,074,488 (GRCm39)	Y799C	probably benign	Het
Nectin4	T	A	1: 171,212,738 (GRCm39)	L357H	probably damaging	Het
Or4p22	G	A	2: 88,317,441 (GRCm39)	V122M	probably damaging	Het
Pax2	A	G	19: 44,779,161 (GRCm39)	N179S	probably damaging	Het
Pcdhac2	C	A	18: 37,278,499 (GRCm39)	T493K	probably damaging	Het
Pgk2	G	T	17: 40,518,287 (GRCm39)	C380*	probably null	Het
Pi4k2b	G	A	5: 52,900,906 (GRCm39)		probably null	Het
Plcb3	A	G	19: 6,940,588 (GRCm39)	V416A	probably damaging	Het
Pom121l2	G	A	13: 22,168,425 (GRCm39)	G899R	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,963 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,628,634 (GRCm39)	E3460K	possibly damaging	Het
Psmb3	A	G	11: 97,597,659 (GRCm39)	E75G	possibly damaging	Het
Retnlb	C	T	16: 48,638,429 (GRCm39)	T50I	probably benign	Het
Sec16a	A	G	2: 26,329,649 (GRCm39)	S789P	probably benign	Het
Sec24d	C	T	3: 123,136,734 (GRCm39)	T489I	probably damaging	Het
Sec24d	T	C	3: 123,136,791 (GRCm39)	M508T	possibly damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Terf1	T	A	1: 15,889,888 (GRCm39)	V221E	probably damaging	Het
Trak1	A	G	9: 121,272,703 (GRCm39)	N187S	possibly damaging	Het
Trappc11	T	A	8: 47,965,642 (GRCm39)	D528V	probably damaging	Het
Tut4	A	G	4: 108,370,384 (GRCm39)	D761G	probably benign	Het
Vmn1r170	A	G	7: 23,306,231 (GRCm39)	N211S	possibly damaging	Het
Zfpm2	G	A	15: 40,959,467 (GRCm39)	W50*	probably null	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
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
R7635:Or6c2	UTSW	10	129,362,551 (GRCm39)	missense	probably benign	0.00
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'- TGGCAGCTATGTCCTATGATCG -3'
(R):5'- CGTAGGTGATAGAAACCACAATC -3'

Sequencing Primer
(F):5'- GATCGTTATGTGGCCATCTGTAAACC -3'
(R):5'- GGTGATAGAAACCACAATCATATGG -3'

Posted On

2016-11-09