Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Or6c213'

202391

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

039827-MU

Accession Numbers

Essential gene?

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

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129573843-129574784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129574578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 69 (I69M)

Ref Sequence

ENSEMBL: ENSMUSP00000150380 (fasta)

Gene Model

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

AlphaFold

Q8VFI2

Predicted Effect

probably benign
Transcript: ENSMUST00000095245
AA Change: I69M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092873
Gene: ENSMUSG00000071065
AA Change: I69M

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

noncoding transcript
Transcript: ENSMUST00000204624
AA Change: I69M

SMART Domains

Protein: ENSMUSP00000144955
Gene: ENSMUSG00000071065
AA Change: I69M

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 benign
Transcript: ENSMUST00000213239
AA Change: I69M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215142
AA Change: I69M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		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
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
R8774-TAIL:Or6c213	UTSW	10	129,573,926 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGAGGACCAGTATGTG -3'
(R):5'- TTGGGATTGACAGATGACCC -3'

Sequencing Primer
(F):5'- CACACTTTGCTATTCATGATGATGGG -3'
(R):5'- GATTGACAGATGACCCTCAGCTTC -3'

Posted On

2014-06-23