Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Or8j3c'

562802

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

045306-MU

Accession Numbers

Essential gene?

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

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86253063-86254018 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86253533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 162 (C162*)

Ref Sequence

ENSEMBL: ENSMUSP00000149742 (fasta)

Gene Model

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

AlphaFold

Q7TR71

Predicted Effect

probably null
Transcript: ENSMUST00000105213
AA Change: C162*

SMART Domains

Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: C162*

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 null
Transcript: ENSMUST00000217481
AA Change: C162*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
Adra1b	A	G	11: 43,667,151 (GRCm39)	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mtmr10	T	C	7: 63,963,932 (GRCm39)		probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Pak6	A	G	2: 118,523,909 (GRCm39)	T355A	probably benign	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Pwp1	A	G	10: 85,715,147 (GRCm39)	N211S	probably benign	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Usp24	T	A	4: 106,263,502 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		probably null	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
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
R8465:Or8j3c	UTSW	2	86,253,975 (GRCm39)	missense	probably benign	0.03
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'- ACGGATCCTCAAAATTGCAAGTAC -3'
(R):5'- TATGAATGTGCCACGCAGCTG -3'

Sequencing Primer
(F):5'- CCTCAAAATTGCAAGTACTATGTTG -3'
(R):5'- ACGCAGCTGGGAGGATTTC -3'

Posted On

2019-06-26