Mutagenetix > Incidental Mutation

Incidental Mutation 'R1526:Or6c208'

167451

Institutional Source

Beutler Lab

Gene Symbol

Or6c208

Ensembl Gene

ENSMUSG00000094347

Gene Name

olfactory receptor family 6 subfamily C member 208

Synonyms

Olfr784, MOR110-3, GA_x6K02T2PULF-11068246-11069205

MMRRC Submission

039566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129223504-129224691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129224176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 225 (K225E)

Ref Sequence

ENSEMBL: ENSMUSP00000149354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082342] [ENSMUST00000214064]

AlphaFold

Q8VFZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000082342
AA Change: K225E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080953
Gene: ENSMUSG00000094347
AA Change: K225E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	3.3e-51	PFAM
Pfam:7tm_1	39	288	3.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214064
AA Change: K225E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	G	T	12: 21,235,188 (GRCm39)	A97S	probably damaging	Het
Brd10	T	C	19: 29,712,545 (GRCm39)	K785E	probably damaging	Het
C1qtnf1	A	T	11: 118,334,616 (GRCm39)	E32V	possibly damaging	Het
Ccdc81	A	G	7: 89,525,081 (GRCm39)	L500P	probably damaging	Het
Cdo1	T	C	18: 46,861,130 (GRCm39)	E27G	probably benign	Het
Ceacam5	G	A	7: 17,484,620 (GRCm39)	G454D	probably damaging	Het
Cemip	T	C	7: 83,600,648 (GRCm39)	D991G	probably damaging	Het
Cep170	A	C	1: 176,616,071 (GRCm39)	I79S	probably damaging	Het
Cep19	A	G	16: 31,926,039 (GRCm39)	Q149R	possibly damaging	Het
Cideb	A	T	14: 55,992,619 (GRCm39)	L99*	probably null	Het
Cntnap5a	A	G	1: 116,356,207 (GRCm39)	N746S	probably benign	Het
Col12a1	T	C	9: 79,564,080 (GRCm39)	N1715S	probably benign	Het
Col3a1	T	C	1: 45,360,848 (GRCm39)	S93P	unknown	Het
Csmd3	C	A	15: 47,449,028 (GRCm39)		probably null	Het
Disp3	T	C	4: 148,344,373 (GRCm39)	I510V	probably benign	Het
Drosha	T	A	15: 12,914,070 (GRCm39)	V1115E	probably damaging	Het
Dzip3	A	C	16: 48,757,369 (GRCm39)	L888R	probably damaging	Het
Emx2	C	A	19: 59,452,442 (GRCm39)	A242E	probably benign	Het
Fto	G	A	8: 92,168,314 (GRCm39)	E256K	possibly damaging	Het
Gabrb2	A	C	11: 42,482,715 (GRCm39)	Y191S	possibly damaging	Het
Gm6526	A	T	14: 43,987,394 (GRCm39)	H110L	probably damaging	Het
Grin3b	T	A	10: 79,810,436 (GRCm39)	N647K	probably damaging	Het
Ifit2	T	G	19: 34,550,602 (GRCm39)	S47R	probably benign	Het
Il5ra	A	T	6: 106,712,781 (GRCm39)	V244E	possibly damaging	Het
Inppl1	A	G	7: 101,482,153 (GRCm39)	L141P	probably benign	Het
Iws1	A	G	18: 32,213,178 (GRCm39)	D202G	probably benign	Het
Kctd4	A	C	14: 76,200,523 (GRCm39)	I165L	probably benign	Het
Lrch3	G	A	16: 32,770,746 (GRCm39)	C116Y	probably damaging	Het
Mettl25	T	C	10: 105,668,844 (GRCm39)	T93A	possibly damaging	Het
Mgat4d	A	G	8: 84,095,666 (GRCm39)	I314V	probably benign	Het
Mrgprb4	A	T	7: 47,848,159 (GRCm39)	Y256*	probably null	Het
Myo9b	G	T	8: 71,808,408 (GRCm39)	V1672L	probably damaging	Het
Nek1	C	T	8: 61,502,975 (GRCm39)	P449L	probably benign	Het
Nucb2	G	A	7: 116,123,642 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,919,412 (GRCm39)	Y6864C	probably damaging	Het
Omt2b	A	T	9: 78,235,420 (GRCm39)		probably benign	Het
Or2y3	T	A	17: 38,393,486 (GRCm39)	I128F	probably damaging	Het
Or4p18	C	T	2: 88,232,777 (GRCm39)	C167Y	probably damaging	Het
Or5ac15	G	A	16: 58,940,293 (GRCm39)	L47F	probably damaging	Het
Otogl	G	T	10: 107,705,387 (GRCm39)	P647T	probably damaging	Het
Oxnad1	A	G	14: 31,824,244 (GRCm39)	D271G	probably benign	Het
Pbx3	T	C	2: 34,261,776 (GRCm39)	I53V	probably damaging	Het
Pds5b	T	A	5: 150,639,865 (GRCm39)		probably null	Het
Ppp4r3a	A	T	12: 101,007,000 (GRCm39)	D810E	probably damaging	Het
Ptpro	A	T	6: 137,438,724 (GRCm39)	D1189V	probably damaging	Het
Ryr3	T	C	2: 112,492,002 (GRCm39)	N3758S	probably damaging	Het
Scarb2	G	A	5: 92,594,200 (GRCm39)	T454M	possibly damaging	Het
Sec23a	A	C	12: 59,032,972 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,095,502 (GRCm39)	A535V	probably benign	Het
Svopl	A	T	6: 38,006,570 (GRCm39)	F142L	probably benign	Het
Tas2r144	T	C	6: 42,192,674 (GRCm39)	I138T	probably benign	Het
Tbc1d15	A	G	10: 115,039,135 (GRCm39)	M535T	probably benign	Het
Tnfaip1	C	T	11: 78,420,971 (GRCm39)	V30M	possibly damaging	Het
Topaz1	T	A	9: 122,625,108 (GRCm39)	W1398R	probably damaging	Het
Tpo	A	G	12: 30,134,694 (GRCm39)	S755P	probably damaging	Het
Ttn	G	T	2: 76,606,460 (GRCm39)	S18116R	probably damaging	Het
Vmn2r78	A	G	7: 86,571,465 (GRCm39)		probably null	Het
Wdr49	T	A	3: 75,304,227 (GRCm39)	K494M	probably benign	Het
Yeats2	A	G	16: 20,024,836 (GRCm39)	M697V	probably damaging	Het
Zfp407	G	A	18: 84,579,158 (GRCm39)	P652S	possibly damaging	Het
Zfp462	A	G	4: 55,009,002 (GRCm39)	M323V	probably benign	Het
Zfp629	G	T	7: 127,209,931 (GRCm39)	P626Q	possibly damaging	Het
Zfp804a	A	T	2: 82,088,532 (GRCm39)	Y787F	probably benign	Het

Other mutations in Or6c208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Or6c208	APN	10	129,223,973 (GRCm39)	missense	probably benign	0.03
IGL03096:Or6c208	APN	10	129,224,318 (GRCm39)	missense	probably damaging	0.96
IGL03365:Or6c208	APN	10	129,224,108 (GRCm39)	missense	possibly damaging	0.94
R0645:Or6c208	UTSW	10	129,224,162 (GRCm39)	missense	possibly damaging	0.88
R1104:Or6c208	UTSW	10	129,224,090 (GRCm39)	missense	probably benign	0.31
R1456:Or6c208	UTSW	10	129,223,652 (GRCm39)	missense	probably damaging	0.98
R1487:Or6c208	UTSW	10	129,224,209 (GRCm39)	missense	probably benign	0.26
R1860:Or6c208	UTSW	10	129,223,955 (GRCm39)	missense	probably damaging	1.00
R1930:Or6c208	UTSW	10	129,223,745 (GRCm39)	missense	probably benign
R1931:Or6c208	UTSW	10	129,223,745 (GRCm39)	missense	probably benign
R4623:Or6c208	UTSW	10	129,223,915 (GRCm39)	missense	probably benign	0.11
R5385:Or6c208	UTSW	10	129,223,633 (GRCm39)	missense	probably benign	0.05
R5483:Or6c208	UTSW	10	129,223,526 (GRCm39)	missense	probably benign	0.02
R5780:Or6c208	UTSW	10	129,223,939 (GRCm39)	missense	probably damaging	1.00
R6448:Or6c208	UTSW	10	129,224,021 (GRCm39)	missense	probably damaging	1.00
R6956:Or6c208	UTSW	10	129,224,166 (GRCm39)	missense	probably benign	0.04
R7102:Or6c208	UTSW	10	129,224,036 (GRCm39)	missense	probably damaging	0.99
R7584:Or6c208	UTSW	10	129,223,901 (GRCm39)	missense	probably damaging	0.99
R7626:Or6c208	UTSW	10	129,223,726 (GRCm39)	missense	possibly damaging	0.91
R8845:Or6c208	UTSW	10	129,224,065 (GRCm39)	missense	probably damaging	0.96
R8988:Or6c208	UTSW	10	129,224,240 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCAAAGTGTGCCATCTACTGGTTC -3'
(R):5'- GTGAAGCACCTGTTTGAAAGCATCC -3'

Sequencing Primer
(F):5'- ACTCTTGGGACTCAAACTGG -3'
(R):5'- GAAAGCATCCTTCACCTGCTG -3'

Posted On

2014-04-13