Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Or6c2'

402092

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

042782-MU

Accession Numbers

Essential gene?

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

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129362098-129363036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129362773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 226 (F226L)

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: F226L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: F226L

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: F226L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.1898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,621,159 (GRCm39)		probably benign	Het
Alg6	C	T	4: 99,607,431 (GRCm39)	L15F	possibly damaging	Het
Allc	T	A	12: 28,605,325 (GRCm39)	M325L	probably benign	Het
Ap3b2	T	C	7: 81,126,517 (GRCm39)	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,009,714 (GRCm39)		probably benign	Het
Borcs6	A	T	11: 68,951,674 (GRCm39)	T351S	probably damaging	Het
Ccar1	T	C	10: 62,589,060 (GRCm39)	R808G	unknown	Het
Celsr3	A	T	9: 108,709,958 (GRCm39)	T1480S	probably benign	Het
Chdh	C	T	14: 29,753,318 (GRCm39)	P76S	probably damaging	Het
Chmp7	T	C	14: 69,969,755 (GRCm39)	S62G	probably benign	Het
Cldn23	A	T	8: 36,293,182 (GRCm39)	V102E	probably damaging	Het
Csn2	G	A	5: 87,842,821 (GRCm39)	Q69*	probably null	Het
Ctrc	A	C	4: 141,567,695 (GRCm39)	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,266,951 (GRCm39)	L253R	probably damaging	Het
Ddr2	G	A	1: 169,812,530 (GRCm39)	T654M	probably damaging	Het
Derl2	G	T	11: 70,910,073 (GRCm39)		probably null	Het
Dnai7	A	T	6: 145,124,794 (GRCm39)	D510E	probably damaging	Het
Dock5	T	C	14: 68,013,733 (GRCm39)	S1330G	probably benign	Het
Emp3	T	C	7: 45,569,373 (GRCm39)	N56S	probably benign	Het
Fam161a	A	T	11: 22,970,583 (GRCm39)	K195*	probably null	Het
Ficd	T	A	5: 113,875,072 (GRCm39)	V47E	probably benign	Het
Garin3	T	C	11: 46,295,990 (GRCm39)	S121P	probably benign	Het
Gbp10	T	C	5: 105,372,575 (GRCm39)	T123A	probably benign	Het
Gdf7	C	T	12: 8,348,371 (GRCm39)	A309T	unknown	Het
Gm14486	G	T	2: 30,548,572 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,307,151 (GRCm39)	C990*	probably null	Het
Itgb4	T	C	11: 115,897,365 (GRCm39)	V1530A	probably damaging	Het
Itpka	G	A	2: 119,580,974 (GRCm39)	R374H	probably damaging	Het
Lacc1	T	A	14: 77,271,594 (GRCm39)		probably null	Het
Med23	A	T	10: 24,771,734 (GRCm39)	K225*	probably null	Het
Mrgpra3	T	A	7: 47,239,909 (GRCm39)	T6S	probably benign	Het
Mroh7	T	A	4: 106,578,583 (GRCm39)	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,359,763 (GRCm39)	R207G	probably damaging	Het
Mup20	A	C	4: 61,969,823 (GRCm39)		probably null	Het
Nagpa	A	G	16: 5,017,478 (GRCm39)		probably null	Het
Nek3	A	T	8: 22,622,243 (GRCm39)		probably benign	Het
Nes	G	A	3: 87,885,935 (GRCm39)	G1398E	probably damaging	Het
Nf1	G	T	11: 79,345,015 (GRCm39)	V1323L	probably damaging	Het
Or5b96	T	A	19: 12,867,801 (GRCm39)	I47F	probably benign	Het
Or6b2	A	T	1: 92,407,594 (GRCm39)	F250I	probably benign	Het
Paqr8	G	T	1: 21,005,482 (GRCm39)	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,399,515 (GRCm39)	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,629,966 (GRCm39)	K683E	probably damaging	Het
Pjvk	A	C	2: 76,480,734 (GRCm39)		probably null	Het
Pkd1l3	A	T	8: 110,359,823 (GRCm39)	S893C	probably damaging	Het
Plxna2	A	G	1: 194,471,207 (GRCm39)	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,821,417 (GRCm39)	I247N	probably damaging	Het
Rac2	T	C	15: 78,449,654 (GRCm39)	N92S	probably damaging	Het
Senp2	A	T	16: 21,860,130 (GRCm39)	H501L	possibly damaging	Het
Snx29	A	T	16: 11,556,227 (GRCm39)	I753F	probably damaging	Het
Tcf20	T	A	15: 82,740,386 (GRCm39)	H355L	probably damaging	Het
Tex2	T	C	11: 106,437,666 (GRCm39)	D668G	unknown	Het
Tlr12	G	A	4: 128,510,502 (GRCm39)	Q583*	probably null	Het
Tmem119	T	C	5: 113,933,289 (GRCm39)	I171V	probably damaging	Het
Ube2m	C	T	7: 12,770,249 (GRCm39)		probably null	Het
Vmn2r25	A	T	6: 123,817,062 (GRCm39)	I173N	probably damaging	Het
Whrn	A	T	4: 63,350,951 (GRCm39)	V15E	probably damaging	Het
Zfp558	A	C	9: 18,368,296 (GRCm39)	V164G	possibly 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
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
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'- CTGTGACTCCAATGCCATTG -3'
(R):5'- GAAAGCCTGTTTCACTTGCTTG -3'

Sequencing Primer
(F):5'- GACTCCAATGCCATTGATCATTTCAG -3'
(R):5'- TTGTTCCTTAAGGTATAAATGAAGGG -3'

Posted On

2016-07-22