Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Or6c211'

220656

Institutional Source

Beutler Lab

Gene Symbol

Or6c211

Ensembl Gene

ENSMUSG00000058513

Gene Name

olfactory receptor family 6 subfamily C member 211

Synonyms

Olfr801, GA_x6K02T2PULF-11349138-11348182, MOR110-10

Accession Numbers

Essential gene?

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

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129505430-129506386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129506334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 18 (D18V)

Ref Sequence

ENSEMBL: ENSMUSP00000149555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072063] [ENSMUST00000203424] [ENSMUST00000213294] [ENSMUST00000216067]

AlphaFold

Q8VEU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072063
AA Change: D18V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: D18V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.2e-51	PFAM
Pfam:7tm_1	39	288	8.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203321

Predicted Effect

probably benign
Transcript: ENSMUST00000203424

SMART Domains

Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	96	5.9e-18	PFAM
Pfam:7tm_1	2	96	1.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213294
AA Change: D18V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216067
AA Change: D18V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly damaging	Het

Other mutations in Or6c211

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Or6c211	APN	10	129,505,756 (GRCm39)	missense	probably damaging	1.00
IGL02400:Or6c211	APN	10	129,505,752 (GRCm39)	missense	probably damaging	0.99
IGL02721:Or6c211	APN	10	129,505,992 (GRCm39)	missense	probably benign	0.08
IGL03107:Or6c211	APN	10	129,505,809 (GRCm39)	missense	probably benign	0.00
R0114:Or6c211	UTSW	10	129,505,467 (GRCm39)	missense	probably benign
R0140:Or6c211	UTSW	10	129,505,557 (GRCm39)	missense	probably damaging	1.00
R0652:Or6c211	UTSW	10	129,506,248 (GRCm39)	missense	probably benign	0.08
R1375:Or6c211	UTSW	10	129,506,241 (GRCm39)	missense	probably null	0.97
R1449:Or6c211	UTSW	10	129,506,238 (GRCm39)	missense	probably damaging	0.99
R2241:Or6c211	UTSW	10	129,505,764 (GRCm39)	missense	probably damaging	1.00
R2516:Or6c211	UTSW	10	129,506,155 (GRCm39)	missense	probably damaging	1.00
R2869:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2869:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2870:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2870:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2873:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R6562:Or6c211	UTSW	10	129,506,008 (GRCm39)	missense	probably damaging	1.00
R8362:Or6c211	UTSW	10	129,506,100 (GRCm39)	missense	possibly damaging	0.88
R8503:Or6c211	UTSW	10	129,505,512 (GRCm39)	missense	probably damaging	0.99
R8867:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R9251:Or6c211	UTSW	10	129,505,980 (GRCm39)	missense	possibly damaging	0.61
Z1177:Or6c211	UTSW	10	129,505,663 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CAGGCAGTTGTGAATGCAATTTC -3'
(R):5'- TGGTCATGCTTAAAATGGACCTTG -3'

Sequencing Primer
(F):5'- TGTGAATGCAATTTCTAAGAAGGAG -3'
(R):5'- TGGACCTTGCTATGAGTATAAAGC -3'

Posted On

2014-08-25