Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Or6c219'

202743

Institutional Source

Beutler Lab

Gene Symbol

Or6c219

Ensembl Gene

ENSMUSG00000058071

Gene Name

olfactory receptor family 6 subfamily C member 219

Synonyms

Olfr818, GA_x6K02T2PULF-11624146-11623190, MOR110-2

MMRRC Submission

045014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129780973-129781929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129781379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 69 (L69P)

Ref Sequence

ENSEMBL: ENSMUSP00000145108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]

AlphaFold

Q8VG46

Predicted Effect

probably damaging
Transcript: ENSMUST00000074308
AA Change: L184P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: L184P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-47	PFAM
Pfam:7tm_1	39	287	3.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205227
AA Change: L69P

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

SMART Domains

Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071
AA Change: L69P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	122	5e-13	PFAM
Pfam:7tm_4	1	123	8.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215527
AA Change: L184P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apeh	A	T	9: 107,969,925 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,033,057 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,364,233 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Ddx19a	T	C	8: 111,719,743 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Drgx	A	G	14: 32,327,281 (GRCm39)		probably benign	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Gm1110	G	T	9: 26,792,422 (GRCm39)		probably benign	Het
Gm5499	T	C	17: 87,386,423 (GRCm39)		noncoding transcript	Het
Gmnc	G	T	16: 26,782,729 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hc	G	A	2: 34,890,777 (GRCm39)		probably benign	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Irag2	T	G	6: 145,104,356 (GRCm39)		probably benign	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mad2l2	G	T	4: 148,227,429 (GRCm39)		probably benign	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Myh13	T	C	11: 67,253,407 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Qtrt2	A	G	16: 43,692,195 (GRCm39)		probably benign	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	Het

Other mutations in Or6c219

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Or6c219	APN	10	129,781,780 (GRCm39)	missense	possibly damaging	0.95
IGL00951:Or6c219	APN	10	129,781,581 (GRCm39)	missense	probably damaging	0.99
IGL01700:Or6c219	APN	10	129,781,810 (GRCm39)	missense	probably damaging	1.00
IGL02313:Or6c219	APN	10	129,781,772 (GRCm39)	missense	probably damaging	1.00
IGL02373:Or6c219	APN	10	129,781,334 (GRCm39)	missense	probably benign	0.11
IGL02983:Or6c219	APN	10	129,781,058 (GRCm39)	missense	probably damaging	1.00
R0730:Or6c219	UTSW	10	129,780,980 (GRCm39)	missense	probably benign	0.04
R1574:Or6c219	UTSW	10	129,781,379 (GRCm39)	missense	probably damaging	1.00
R1789:Or6c219	UTSW	10	129,781,451 (GRCm39)	nonsense	probably null
R1824:Or6c219	UTSW	10	129,781,206 (GRCm39)	missense	possibly damaging	0.67
R2107:Or6c219	UTSW	10	129,781,581 (GRCm39)	missense	probably damaging	0.99
R2398:Or6c219	UTSW	10	129,781,076 (GRCm39)	missense	probably benign	0.04
R5799:Or6c219	UTSW	10	129,781,780 (GRCm39)	missense	possibly damaging	0.95
R6048:Or6c219	UTSW	10	129,781,695 (GRCm39)	missense	possibly damaging	0.67
R7027:Or6c219	UTSW	10	129,781,041 (GRCm39)	missense	possibly damaging	0.60
R7222:Or6c219	UTSW	10	129,781,758 (GRCm39)	missense	probably damaging	1.00
R7406:Or6c219	UTSW	10	129,781,435 (GRCm39)	missense	probably benign	0.00
R8483:Or6c219	UTSW	10	129,780,998 (GRCm39)	missense	probably benign	0.02
R9306:Or6c219	UTSW	10	129,781,289 (GRCm39)	missense	probably damaging	1.00
R9752:Or6c219	UTSW	10	129,780,990 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAACCATGTGTGAGGAGCAG -3'
(R):5'- ACAGAGTTCTACCTCCTGGCTG -3'

Sequencing Primer
(F):5'- TGTGTGAGGAGCAGGTGGAAAAG -3'
(R):5'- GATCGCTATGTAGCCATCTGCAG -3'

Posted On

2014-06-23