Mutagenetix > Incidental Mutation

Incidental Mutation 'R7626:Or6c208'

589457

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

045690-MU

Accession Numbers

Essential gene?

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

Stock #

R7626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129223504-129224691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129223726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 75 (C75G)

Ref Sequence

ENSEMBL: ENSMUSP00000149354 (fasta)

Gene Model

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

AlphaFold

Q8VFZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082342
AA Change: C75G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080953
Gene: ENSMUSG00000094347
AA Change: C75G

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

possibly damaging
Transcript: ENSMUST00000214064
AA Change: C75G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Alox5	T	C	6: 116,390,756 (GRCm39)	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,367,339 (GRCm39)	K355N	possibly damaging	Het
Camkk2	T	A	5: 122,902,363 (GRCm39)		probably benign	Het
Ccdc171	C	T	4: 83,499,012 (GRCm39)	Q237*	probably null	Het
Ces2b	T	C	8: 105,564,017 (GRCm39)	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013 (GRCm39)	F243S	possibly damaging	Het
Crip3	A	T	17: 46,740,791 (GRCm39)	R65S	probably benign	Het
Dcn	A	G	10: 97,319,340 (GRCm39)	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,658,332 (GRCm39)	S216G	possibly damaging	Het
Dmxl1	A	G	18: 50,035,861 (GRCm39)	I2295V	probably benign	Het
Dnah2	A	G	11: 69,389,511 (GRCm39)	S794P	probably damaging	Het
Eri1	A	C	8: 35,941,554 (GRCm39)	Y264*	probably null	Het
Etl4	T	C	2: 20,718,189 (GRCm39)	L179P	probably damaging	Het
F5	T	G	1: 164,014,481 (GRCm39)	M584R	possibly damaging	Het
Fam98c	G	T	7: 28,852,248 (GRCm39)	R104S	probably damaging	Het
Flad1	A	T	3: 89,310,718 (GRCm39)	I443N	probably benign	Het
Hbp1	T	C	12: 31,993,899 (GRCm39)	E43G	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kcnj3	T	A	2: 55,484,833 (GRCm39)	C310*	probably null	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,518,882 (GRCm39)	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,663,679 (GRCm39)	R285L	probably damaging	Het
Ltb4r2	T	A	14: 56,000,338 (GRCm39)	S320T	probably damaging	Het
Mmd	G	T	11: 90,148,378 (GRCm39)	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,608,661 (GRCm39)	S2146P	probably benign	Het
Nop14	A	G	5: 34,809,135 (GRCm39)	F319L	probably damaging	Het
Numa1	C	A	7: 101,648,630 (GRCm39)	T787K	probably benign	Het
Or10q12	T	G	19: 13,745,709 (GRCm39)	M1R	probably null	Het
Or2t46	A	C	11: 58,471,999 (GRCm39)	T110P	probably damaging	Het
Patj	T	C	4: 98,435,224 (GRCm39)	V2A	probably benign	Het
Pisd	T	C	5: 32,898,032 (GRCm39)	H52R	probably benign	Het
Plekhg6	A	T	6: 125,340,631 (GRCm39)	D576E	probably benign	Het
Plekhn1	T	A	4: 156,310,110 (GRCm39)	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,295,778 (GRCm39)	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,789,476 (GRCm39)	T513M	possibly damaging	Het
Pramel32	A	T	4: 88,548,279 (GRCm39)	I42N	probably damaging	Het
Rhobtb2	C	A	14: 70,034,386 (GRCm39)	A280S	probably damaging	Het
Rnf40	A	G	7: 127,189,047 (GRCm39)	D140G	probably benign	Het
Rxfp1	A	G	3: 79,555,397 (GRCm39)	L653P	probably damaging	Het
Satb1	A	T	17: 52,074,995 (GRCm39)	D500E	probably benign	Het
Slc15a1	A	T	14: 121,713,377 (GRCm39)	D383E	probably benign	Het
Smarcad1	C	A	6: 65,073,033 (GRCm39)	S604R	possibly damaging	Het
St7	A	G	6: 17,934,216 (GRCm39)	T533A	probably damaging	Het
Sv2c	T	A	13: 96,122,451 (GRCm39)	T442S	probably benign	Het
Tbx2	A	G	11: 85,731,622 (GRCm39)	T640A	probably benign	Het
Tenm4	T	A	7: 96,542,221 (GRCm39)	N1948K	probably damaging	Het
Tll1	T	C	8: 64,551,268 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,805,718 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,518,136 (GRCm39)	L582Q	probably null	Het
Unc13c	T	A	9: 73,641,799 (GRCm39)	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,832,192 (GRCm39)	Y729*	probably null	Het
Zcchc2	A	G	1: 105,928,742 (GRCm39)	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,173,917 (GRCm39)	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,768,437 (GRCm39)	C597*	probably null	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
R1526:Or6c208	UTSW	10	129,224,176 (GRCm39)	missense	probably benign	0.01
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
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'- TGGACTGACAGATGACCCTCAG -3'
(R):5'- CCCAAGAGCTGAGAACCAGTAG -3'

Sequencing Primer
(F):5'- CAGCTACAAATTCCAATTTTCCTG -3'
(R):5'- CACACTTTGCTGTTCATGATGATG -3'

Posted On

2019-10-24