Mutagenetix > Incidental Mutation

Incidental Mutation 'R8765:Or6c213'

667838

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

MMRRC Submission

068599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129573843-129574784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129574511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 92 (Y92H)

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: Y92H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092873
Gene: ENSMUSG00000071065
AA Change: Y92H

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: Y92H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215142
AA Change: Y92H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,566,956 (GRCm39)	D452N	possibly damaging	Het
Actr1a	G	T	19: 46,372,787 (GRCm39)		probably benign	Het
Alox15	A	G	11: 70,240,819 (GRCm39)	V187A	probably benign	Het
Alpk1	A	T	3: 127,466,118 (GRCm39)	N1129K	probably damaging	Het
Angptl1	A	G	1: 156,684,727 (GRCm39)	N299D	probably benign	Het
Ank2	T	C	3: 126,850,731 (GRCm39)	T128A	possibly damaging	Het
Armh4	C	T	14: 49,920,100 (GRCm39)	R743K	probably damaging	Het
Arsj	G	A	3: 126,232,781 (GRCm39)	R509K	probably benign	Het
Atp6v0a2	G	A	5: 124,793,534 (GRCm39)	M630I	probably damaging	Het
BC107364	T	C	3: 96,341,751 (GRCm39)	H122R	unknown	Het
Bdh2	T	C	3: 134,996,841 (GRCm39)	M112T	probably benign	Het
C1qtnf3	G	A	15: 10,952,843 (GRCm39)		probably null	Het
Cables1	T	C	18: 12,056,422 (GRCm39)	L326P	probably benign	Het
Cacna1c	C	A	6: 118,580,844 (GRCm39)	A1769S		Het
Cacna2d2	T	C	9: 107,394,358 (GRCm39)	L567P	probably damaging	Het
Cacnb4	C	T	2: 52,327,001 (GRCm39)	R399H	probably damaging	Het
Cacng4	A	C	11: 107,625,976 (GRCm39)	I205S	probably damaging	Het
Ciz1	A	G	2: 32,260,895 (GRCm39)	K269E	probably damaging	Het
Csf1	A	G	3: 107,663,991 (GRCm39)	V35A	probably benign	Het
Csmd1	G	T	8: 16,760,627 (GRCm39)	Y169*	probably null	Het
Ctnna1	T	A	18: 35,384,293 (GRCm39)	M756K	probably damaging	Het
Dnah7b	T	A	1: 46,392,159 (GRCm39)	L3840Q	possibly damaging	Het
Fabp9	T	C	3: 10,258,813 (GRCm39)	*143W	probably null	Het
Fh1	C	T	1: 175,435,378 (GRCm39)		probably benign	Het
Fmo2	T	C	1: 162,707,966 (GRCm39)	T390A	probably benign	Het
Fsip1	G	T	2: 118,082,154 (GRCm39)	D93E	possibly damaging	Het
Golga5	A	G	12: 102,445,963 (GRCm39)	D406G	probably benign	Het
Gucy2d	C	A	7: 98,108,347 (GRCm39)	A760E	probably benign	Het
Hax1	T	C	3: 89,904,780 (GRCm39)	I141V	probably benign	Het
Hid1	T	A	11: 115,239,786 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,556,413 (GRCm39)	V2458I	probably damaging	Het
Igkv4-72	A	G	6: 69,203,894 (GRCm39)	V99A	probably benign	Het
Igkv5-39	G	A	6: 69,877,915 (GRCm39)	S16L	probably benign	Het
Ints4	T	A	7: 97,151,016 (GRCm39)	D294E	possibly damaging	Het
Lcn11	A	G	2: 25,668,139 (GRCm39)	Y99C	probably damaging	Het
Lrrc8b	G	A	5: 105,629,133 (GRCm39)	R493H	probably benign	Het
Mon1b	A	T	8: 114,362,881 (GRCm39)	D43V	possibly damaging	Het
Mrpl9	G	A	3: 94,355,129 (GRCm39)	V234I	possibly damaging	Het
Nek10	A	T	14: 14,999,104 (GRCm38)	E1034D	probably damaging	Het
Nfxl1	T	C	5: 72,686,443 (GRCm39)	H586R	probably benign	Het
Nit2	T	A	16: 56,979,832 (GRCm39)	D211V	probably benign	Het
Nle1	G	A	11: 82,793,882 (GRCm39)	R385C	probably damaging	Het
Or10ak12	T	C	4: 118,666,159 (GRCm39)	T301A	probably benign	Het
Or1i2	C	T	10: 78,448,429 (GRCm39)	M15I	probably benign	Het
Or2a25	T	C	6: 42,889,102 (GRCm39)	V215A	probably benign	Het
Or2ab1	G	T	11: 58,488,785 (GRCm39)	V182F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,467 (GRCm39)	H132R	probably benign	Het
Pcdh10	T	C	3: 45,333,923 (GRCm39)	I79T	probably damaging	Het
Peg10	A	G	6: 4,754,492 (GRCm39)	D91G	unknown	Het
Plec	C	T	15: 76,066,045 (GRCm39)	A1342T	unknown	Het
Ppp2r3d	A	G	9: 124,439,649 (GRCm38)	V68A		Het
Pramel46	T	C	5: 95,419,447 (GRCm39)	M1V	probably null	Het
Psd3	A	T	8: 68,416,093 (GRCm39)	D315E	possibly damaging	Het
Rack1	A	G	11: 48,694,286 (GRCm39)	N162S	probably benign	Het
Slc12a8	C	A	16: 33,338,731 (GRCm39)	H11Q	possibly damaging	Het
Slc44a5	A	T	3: 153,968,561 (GRCm39)	D584V	probably damaging	Het
Spata18	T	C	5: 73,825,992 (GRCm39)	S100P		Het
Stap2	G	T	17: 56,310,145 (GRCm39)	S53R	probably damaging	Het
Timeless	T	C	10: 128,080,412 (GRCm39)		probably null	Het
Tlk1	A	T	2: 70,582,581 (GRCm39)	S183T	probably benign	Het
Tpp2	T	A	1: 44,011,849 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,654,663 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,696,145 (GRCm39)	V40A	probably benign	Het
Vmn1r15	T	C	6: 57,235,585 (GRCm39)	V151A	probably benign	Het
Vmn1r198	A	C	13: 22,539,269 (GRCm39)	I252L	probably damaging	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Wdr89	A	G	12: 75,679,688 (GRCm39)	S189P	probably damaging	Het
Zfp1006	T	C	8: 129,948,070 (GRCm39)	D49G	probably benign	Het
Zfp873	T	A	10: 81,896,072 (GRCm39)	C268S	probably damaging	Het
Zfp932	T	A	5: 110,154,827 (GRCm39)	D8E	probably benign	Het
Zfyve16	T	C	13: 92,658,055 (GRCm39)	R619G	probably benign	Het
Zswim2	A	T	2: 83,771,431 (GRCm39)	I31N	probably damaging	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
R8774:Or6c213	UTSW	10	129,573,926 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Or6c213	UTSW	10	129,573,926 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATTCCAGTTTGAGTCCCAAC -3'
(R):5'- ACATCTTGAGCTTGATGGGG -3'

Sequencing Primer
(F):5'- CCAGTTTGAGTCCCAACATTAAAGG -3'
(R):5'- CATCTTGAGCTTGATGGGGAACTTAG -3'

Posted On

2021-03-08