Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Or8j3c'

656743

Institutional Source

Beutler Lab

Gene Symbol

Or8j3c

Ensembl Gene

ENSMUSG00000090059

Gene Name

olfactory receptor family 8 subfamily J member 3C

Synonyms

GA_x6K02T2Q125-47892992-47892045, Olfr1062, MOR185-1

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86253063-86254018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86253975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 15 (M15K)

Ref Sequence

ENSEMBL: ENSMUSP00000149742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105213] [ENSMUST00000217481]

AlphaFold

Q7TR71

Predicted Effect

probably benign
Transcript: ENSMUST00000105213
AA Change: M15K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: M15K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-46	PFAM
Pfam:7tm_1	41	290	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217481
AA Change: M15K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	T	12: 84,153,215 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,247,330 (GRCm39)	N1429Y	probably benign	Het
Adk	T	C	14: 21,153,892 (GRCm39)	S32P	possibly damaging	Het
Akap13	A	T	7: 75,376,786 (GRCm39)	M2005L	probably benign	Het
Atp10a	A	T	7: 58,478,058 (GRCm39)	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,870,915 (GRCm39)	I142V	probably benign	Het
Brap	C	T	5: 121,817,358 (GRCm39)	Q322*	probably null	Het
Carmil3	A	T	14: 55,734,305 (GRCm39)	N401I	probably damaging	Het
Cdan1	A	T	2: 120,558,921 (GRCm39)	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,408,317 (GRCm39)	S531I	probably benign	Het
Cela3a	A	T	4: 137,131,185 (GRCm39)	Y184*	probably null	Het
Cep63	T	C	9: 102,490,576 (GRCm39)	K178R	probably benign	Het
Cfb	G	A	17: 35,076,290 (GRCm39)	Q152*	probably null	Het
Cnpy2	G	A	10: 128,162,044 (GRCm39)	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,237,404 (GRCm39)		probably null	Het
Ctc1	G	A	11: 68,917,045 (GRCm39)	G67D	probably damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,439,378 (GRCm39)	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,697,184 (GRCm39)		probably null	Het
Dedd2	G	T	7: 24,918,331 (GRCm39)	R75S	probably damaging	Het
Fat2	G	A	11: 55,147,530 (GRCm39)	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,513,215 (GRCm39)	V177I	probably damaging	Het
Fsip2	A	T	2: 82,810,284 (GRCm39)	E2201V	probably benign	Het
Gbp11	C	T	5: 105,472,928 (GRCm39)	D499N	probably benign	Het
Gfm1	A	G	3: 67,339,032 (GRCm39)	E45G	probably damaging	Het
H2-D1	A	G	17: 35,482,487 (GRCm39)	Y69C	probably damaging	Het
Hcar1	A	G	5: 124,017,109 (GRCm39)	F194S	probably damaging	Het
Heatr4	A	T	12: 84,024,707 (GRCm39)		probably null	Het
Kcnd2	G	A	6: 21,216,695 (GRCm39)	C133Y	probably damaging	Het
Kcnq1	A	T	7: 142,979,711 (GRCm39)	Q619L	probably benign	Het
Kctd12	T	A	14: 103,218,901 (GRCm39)	R326W	probably damaging	Het
Kel	A	G	6: 41,666,472 (GRCm39)		probably null	Het
Lipk	A	T	19: 34,024,197 (GRCm39)	I332F	probably benign	Het
Lrrc37	T	A	11: 103,506,947 (GRCm39)		probably benign	Het
Masp2	A	G	4: 148,696,516 (GRCm39)	D371G	possibly damaging	Het
Met	A	G	6: 17,571,809 (GRCm39)	E1376G	probably benign	Het
Mup5	A	T	4: 61,752,015 (GRCm39)	I78K	probably benign	Het
Mynn	A	T	3: 30,670,790 (GRCm39)	D526V	probably damaging	Het
Naip6	G	T	13: 100,433,423 (GRCm39)	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,284,696 (GRCm39)	P229Q	probably damaging	Het
Npepps	T	G	11: 97,139,085 (GRCm39)	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,112,631 (GRCm39)	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,480,032 (GRCm39)	T310A	probably damaging	Het
Or4g7	A	T	2: 111,309,425 (GRCm39)	T99S	probably benign	Het
Or8c9	A	T	9: 38,241,410 (GRCm39)	I176F	possibly damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pigf	G	A	17: 87,304,964 (GRCm39)	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,172,525 (GRCm39)	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,197,778 (GRCm39)	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,582,308 (GRCm39)	D1407N	probably benign	Het
Rhobtb3	T	C	13: 76,087,741 (GRCm39)	D82G	probably damaging	Het
Rims1	T	C	1: 22,498,731 (GRCm39)	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,849,451 (GRCm39)		probably benign	Het
Sec14l4	T	A	11: 3,993,948 (GRCm39)	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,884,342 (GRCm39)	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,334,016 (GRCm39)	I342T	probably damaging	Het
Shmt2	A	G	10: 127,355,945 (GRCm39)	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,722,661 (GRCm39)	M243V	probably benign	Het
Slfn2	T	A	11: 82,960,487 (GRCm39)	N155K	probably damaging	Het
Spata31h1	A	T	10: 82,152,298 (GRCm39)	L23M	possibly damaging	Het
Syne2	A	T	12: 75,900,898 (GRCm39)	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,160,736 (GRCm39)	I116L	probably benign	Het
Tcp11	A	G	17: 28,286,766 (GRCm39)	I411T	probably damaging	Het
Tctn1	C	T	5: 122,379,859 (GRCm39)	A560T	probably benign	Het
Tenm3	C	A	8: 48,682,216 (GRCm39)	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,713,645 (GRCm39)	D691G	probably benign	Het
Ube3b	C	T	5: 114,528,451 (GRCm39)	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,287,518 (GRCm39)	I216M	possibly damaging	Het
Unc5d	T	A	8: 29,156,877 (GRCm39)	R789S	probably damaging	Het
Ush2a	G	A	1: 188,147,875 (GRCm39)	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,399,352 (GRCm39)	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,684,309 (GRCm39)	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,445,302 (GRCm39)	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,600,691 (GRCm39)	I663N	probably damaging	Het
Vnn3	C	A	10: 23,741,780 (GRCm39)	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,059,730 (GRCm39)	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,499,180 (GRCm39)	E97K	possibly damaging	Het
Xdh	A	T	17: 74,206,007 (GRCm39)	C1002*	probably null	Het
Zscan4e	A	C	7: 11,041,578 (GRCm39)	V126G	probably damaging	Het

Other mutations in Or8j3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Or8j3c	APN	2	86,253,336 (GRCm39)	missense	probably damaging	0.98
IGL02638:Or8j3c	APN	2	86,254,021 (GRCm39)	splice site	probably null
IGL02863:Or8j3c	APN	2	86,253,457 (GRCm39)	missense	probably benign	0.44
R0211:Or8j3c	UTSW	2	86,253,451 (GRCm39)	missense	probably damaging	0.96
R0211:Or8j3c	UTSW	2	86,253,451 (GRCm39)	missense	probably damaging	0.96
R1486:Or8j3c	UTSW	2	86,253,825 (GRCm39)	missense	probably damaging	0.99
R2327:Or8j3c	UTSW	2	86,253,165 (GRCm39)	nonsense	probably null
R3695:Or8j3c	UTSW	2	86,253,987 (GRCm39)	missense	probably damaging	0.96
R3981:Or8j3c	UTSW	2	86,253,186 (GRCm39)	missense	probably damaging	1.00
R4156:Or8j3c	UTSW	2	86,253,544 (GRCm39)	missense	possibly damaging	0.67
R4860:Or8j3c	UTSW	2	86,253,301 (GRCm39)	missense	probably damaging	1.00
R4860:Or8j3c	UTSW	2	86,253,301 (GRCm39)	missense	probably damaging	1.00
R5024:Or8j3c	UTSW	2	86,253,805 (GRCm39)	missense	possibly damaging	0.77
R5351:Or8j3c	UTSW	2	86,253,610 (GRCm39)	missense	probably damaging	1.00
R5566:Or8j3c	UTSW	2	86,253,721 (GRCm39)	nonsense	probably null
R5777:Or8j3c	UTSW	2	86,253,669 (GRCm39)	missense	probably benign	0.00
R6628:Or8j3c	UTSW	2	86,253,361 (GRCm39)	missense	probably benign	0.02
R7039:Or8j3c	UTSW	2	86,253,177 (GRCm39)	missense	possibly damaging	0.48
R7159:Or8j3c	UTSW	2	86,253,956 (GRCm39)	splice site	probably null
R7236:Or8j3c	UTSW	2	86,253,533 (GRCm39)	nonsense	probably null
R7251:Or8j3c	UTSW	2	86,253,940 (GRCm39)	missense	probably benign	0.45
R7575:Or8j3c	UTSW	2	86,253,582 (GRCm39)	missense	probably benign
R7840:Or8j3c	UTSW	2	86,253,583 (GRCm39)	missense	probably benign	0.00
R8048:Or8j3c	UTSW	2	86,253,651 (GRCm39)	missense	probably damaging	1.00
R8167:Or8j3c	UTSW	2	86,253,484 (GRCm39)	missense	probably damaging	1.00
R8672:Or8j3c	UTSW	2	86,253,976 (GRCm39)	missense	probably benign
R8871:Or8j3c	UTSW	2	86,253,697 (GRCm39)	missense	probably benign
R9244:Or8j3c	UTSW	2	86,253,423 (GRCm39)	missense	probably damaging	0.97
R9513:Or8j3c	UTSW	2	86,253,707 (GRCm39)	missense	probably damaging	1.00
X0065:Or8j3c	UTSW	2	86,253,466 (GRCm39)	missense	probably benign	0.39
Z1176:Or8j3c	UTSW	2	86,253,718 (GRCm39)	missense	probably benign	0.07
Z1177:Or8j3c	UTSW	2	86,253,756 (GRCm39)	missense	probably benign	0.12
Z1177:Or8j3c	UTSW	2	86,253,597 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGTTGATGACCGCCAGG -3'
(R):5'- TGAAGCCTTAGTACTCTGATGTTTC -3'

Sequencing Primer
(F):5'- CGCCAGGTGTCTGAGGAAG -3'
(R):5'- AAAAAGAGTAAGCATGATTGAACATG -3'

Posted On

2021-01-18