Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774-TAIL:Or6c213'

667980

Institutional Source

Beutler Lab

Gene Symbol

Or6c213

Ensembl Gene

ENSMUSG00000071065

Gene Name

olfactory receptor family 6 subfamily C member 213

Synonyms

MOR110-5, GA_x6K02T2PULF-11417610-11416669, Olfr806, MOR110-12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8774-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129573843-129574784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129573926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 287 (I287F)

Ref Sequence

ENSEMBL: ENSMUSP00000150380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095245] [ENSMUST00000213239] [ENSMUST00000215142]

AlphaFold

Q8VFI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095245
AA Change: I287F

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

SMART Domains

Protein: ENSMUSP00000092873
Gene: ENSMUSG00000071065
AA Change: I287F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	2.6e-52	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213239
AA Change: I287F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215142
AA Change: I287F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,090,358 (GRCm39)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,787,577 (GRCm39)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,313,913 (GRCm39)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,597,802 (GRCm39)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,885,529 (GRCm39)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,657,101 (GRCm39)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,595,571 (GRCm39)	D236G	probably damaging	Het
Auh	A	T	13: 52,993,631 (GRCm39)	M261K	probably benign	Het
Blm	TCC	TCCGCC	7: 80,162,655 (GRCm39)		probably benign	Het
Blm	TCC	TCCGCC	7: 80,162,667 (GRCm39)		probably benign	Het
Blm	CTC	CTCATC	7: 80,162,666 (GRCm39)		probably benign	Het
C2cd6	A	T	1: 59,099,825 (GRCm39)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,825,090 (GRCm39)	N1287K	probably damaging	Het
Cebpz	A	G	17: 79,229,073 (GRCm39)	S958P	probably benign	Het
Cgn	T	A	3: 94,680,810 (GRCm39)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm39)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 113,529,820 (GRCm39)	E676G	probably benign	Het
Cspp1	A	T	1: 10,183,139 (GRCm39)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,679,901 (GRCm39)		probably null	Het
Epn3	G	T	11: 94,383,220 (GRCm39)	P335T	possibly damaging	Het
Far2	T	A	6: 148,047,629 (GRCm39)	S103T	probably benign	Het
Fhip1a	G	C	3: 85,580,097 (GRCm39)	Q703E	probably benign	Het
Fhl2	A	G	1: 43,162,751 (GRCm39)	S255P	probably damaging	Het
Fmnl2	T	A	2: 52,932,321 (GRCm39)	V100D		Het
Gabbr1	T	C	17: 37,382,749 (GRCm39)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,394,193 (GRCm39)	V234I	probably benign	Het
Ift172	A	G	5: 31,415,207 (GRCm39)	V1334A	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,255,193 (GRCm39)	T80A	probably benign	Het
Lrp4	A	G	2: 91,308,043 (GRCm39)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,227,145 (GRCm39)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,345,117 (GRCm39)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm39)	R361*	probably null	Het
Muc5b	T	A	7: 141,418,831 (GRCm39)	S3926T	probably benign	Het
Nat10	C	A	2: 103,561,752 (GRCm39)	R643L	probably damaging	Het
Ncbp3	T	C	11: 72,938,808 (GRCm39)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,257,984 (GRCm39)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,848,974 (GRCm39)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,304,692 (GRCm39)	N260D	probably benign	Het
Or4k38	T	C	2: 111,166,318 (GRCm39)	Y35C	probably damaging	Het
Or51aa2	C	A	7: 103,187,965 (GRCm39)	V159L	probably benign	Het
Or8c19-ps1	G	A	9: 38,220,600 (GRCm39)	A170T	unknown	Het
Pirb	G	T	7: 3,720,728 (GRCm39)	L257M	probably damaging	Het
Plcg2	A	T	8: 118,306,585 (GRCm39)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,517,864 (GRCm39)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,092,175 (GRCm39)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,852,436 (GRCm39)	N208D	possibly damaging	Het
Robo1	T	G	16: 72,832,719 (GRCm39)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,730,169 (GRCm39)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,615,475 (GRCm39)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,724,423 (GRCm39)	Q150K	probably damaging	Het
Sod1	T	G	16: 90,023,039 (GRCm39)	V120G	probably damaging	Het
Spata31g1	T	C	4: 42,971,087 (GRCm39)	L140P	probably damaging	Het
Sprr2f	T	A	3: 92,273,323 (GRCm39)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm39)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,877,917 (GRCm39)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,898,030 (GRCm39)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,033,101 (GRCm39)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,812,029 (GRCm39)	T423I	probably benign	Het
Unc93a	A	T	17: 13,341,837 (GRCm39)	I98N	probably damaging	Het
Usp33	T	A	3: 152,085,213 (GRCm39)	Y624*	probably null	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Zfp867	A	G	11: 59,354,837 (GRCm39)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,668,062 (GRCm39)	T438I	probably benign	Het

Other mutations in Or6c213

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Or6c213	APN	10	129,574,791 (GRCm39)	utr 5 prime	probably benign
IGL02090:Or6c213	APN	10	129,574,181 (GRCm39)	missense	probably benign
IGL02328:Or6c213	APN	10	129,573,895 (GRCm39)	missense	probably benign	0.35
IGL02572:Or6c213	APN	10	129,574,735 (GRCm39)	missense	possibly damaging	0.81
R1773:Or6c213	UTSW	10	129,574,312 (GRCm39)	missense	probably damaging	0.97
R1797:Or6c213	UTSW	10	129,574,578 (GRCm39)	missense	probably benign	0.03
R4430:Or6c213	UTSW	10	129,574,130 (GRCm39)	missense	probably damaging	1.00
R5704:Or6c213	UTSW	10	129,574,685 (GRCm39)	missense	probably benign	0.00
R6140:Or6c213	UTSW	10	129,574,523 (GRCm39)	missense	possibly damaging	0.95
R6655:Or6c213	UTSW	10	129,573,956 (GRCm39)	missense	possibly damaging	0.96
R6858:Or6c213	UTSW	10	129,574,333 (GRCm39)	missense	probably damaging	1.00
R7647:Or6c213	UTSW	10	129,574,070 (GRCm39)	missense	probably damaging	0.99
R7879:Or6c213	UTSW	10	129,574,559 (GRCm39)	missense	probably benign	0.15
R8392:Or6c213	UTSW	10	129,573,910 (GRCm39)	missense	probably damaging	1.00
R8510:Or6c213	UTSW	10	129,574,054 (GRCm39)	missense	probably benign	0.01
R8765:Or6c213	UTSW	10	129,574,511 (GRCm39)	missense	probably damaging	1.00
R8774:Or6c213	UTSW	10	129,573,926 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2021-03-08