Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Or8j3c'

184699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8j3c

Ensembl Gene

ENSMUSG00000090059

Gene Name

olfactory receptor family 8 subfamily J member 3C

Synonyms

GA_x6K02T2Q125-47892992-47892045, Olfr1062, MOR185-1

Accession Numbers

Essential gene?

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

Stock #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

86253063-86254018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86253336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 228 (I228T)

Ref Sequence

ENSEMBL: ENSMUSP00000149742 (fasta)

Gene Model

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

AlphaFold

Q7TR71

Predicted Effect

probably damaging
Transcript: ENSMUST00000105213
AA Change: I228T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: I228T

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

noncoding transcript
Transcript: ENSMUST00000216166

Predicted Effect

probably damaging
Transcript: ENSMUST00000217481
AA Change: I228T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,630,405 (GRCm39)	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
A830018L16Rik	T	A	1: 12,003,822 (GRCm39)		probably benign	Het
Adgrb1	T	C	15: 74,413,424 (GRCm39)	V536A	possibly damaging	Het
Ano6	T	G	15: 95,853,825 (GRCm39)	I667R	probably benign	Het
Ap3b1	T	A	13: 94,545,353 (GRCm39)		probably null	Het
Azin2	G	T	4: 128,844,451 (GRCm39)	L37M	possibly damaging	Het
Caap1	A	G	4: 94,438,667 (GRCm39)	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,616,585 (GRCm39)	V46A	probably benign	Het
Chrna6	T	C	8: 27,897,289 (GRCm39)	D196G	probably damaging	Het
Col19a1	A	G	1: 24,351,126 (GRCm39)		probably null	Het
Defb22	G	T	2: 152,331,976 (GRCm39)	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dync1h1	A	G	12: 110,603,558 (GRCm39)	I2211V	probably benign	Het
Ecel1	A	C	1: 87,082,645 (GRCm39)	C23G	probably benign	Het
Elmod2	A	G	8: 84,048,126 (GRCm39)	V112A	probably damaging	Het
Enpp1	T	C	10: 24,531,754 (GRCm39)	K510E	probably damaging	Het
Erbb4	A	T	1: 68,081,694 (GRCm39)	S1113R	probably damaging	Het
Esf1	A	T	2: 139,971,181 (GRCm39)	D653E	possibly damaging	Het
Exd1	A	G	2: 119,370,546 (GRCm39)	V54A	possibly damaging	Het
Fam227b	A	T	2: 125,963,004 (GRCm39)		probably benign	Het
Fnbp1l	A	G	3: 122,364,602 (GRCm39)		probably benign	Het
Foxf1	A	G	8: 121,812,084 (GRCm39)	N316S	probably damaging	Het
Gpaa1	T	C	15: 76,218,495 (GRCm39)	V426A	probably benign	Het
Gpc2	A	G	5: 138,274,844 (GRCm39)		probably null	Het
Hnrnpab	A	G	11: 51,492,622 (GRCm39)		probably benign	Het
Hsf4	T	G	8: 106,002,299 (GRCm39)		probably benign	Het
Inpp4a	G	T	1: 37,435,166 (GRCm39)	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,704,919 (GRCm39)	M361L	probably benign	Het
Kif15	A	C	9: 122,846,450 (GRCm39)	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,765,167 (GRCm39)	H761R	probably benign	Het
Masp2	G	T	4: 148,688,270 (GRCm39)	C180F	probably damaging	Het
Mical2	A	G	7: 111,910,613 (GRCm39)	E261G	probably damaging	Het
Mtmr7	T	C	8: 41,013,926 (GRCm39)	I211V	probably benign	Het
Nsd2	T	C	5: 34,024,915 (GRCm39)		probably benign	Het
Or4c121	A	G	2: 89,023,907 (GRCm39)	I157T	probably benign	Het
Or51q1c	A	G	7: 103,652,614 (GRCm39)	N44S	probably damaging	Het
Or8d1b	T	C	9: 38,887,910 (GRCm39)		probably benign	Het
Oxct1	G	A	15: 4,056,250 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,824,516 (GRCm39)		probably benign	Het
Plbd2	C	T	5: 120,625,507 (GRCm39)	S430N	probably damaging	Het
Postn	A	G	3: 54,270,110 (GRCm39)	K63R	probably benign	Het
Pramel19	G	A	4: 101,798,331 (GRCm39)	V101I	possibly damaging	Het
Proc	A	T	18: 32,267,913 (GRCm39)	V75E	probably benign	Het
Ptprt	T	C	2: 162,079,992 (GRCm39)	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,447,902 (GRCm39)	V476A	possibly damaging	Het
Recql5	A	G	11: 115,823,623 (GRCm39)	V41A	possibly damaging	Het
Ros1	T	A	10: 51,992,018 (GRCm39)	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,358,476 (GRCm39)	T194I	possibly damaging	Het
Scin	T	C	12: 40,119,452 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,003,679 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,903,725 (GRCm39)	S1545T	probably benign	Het
Tpra1	A	T	6: 88,887,164 (GRCm39)	H168L	possibly damaging	Het
Trim47	T	C	11: 115,998,734 (GRCm39)	E295G	probably damaging	Het
Ttc28	T	A	5: 111,040,802 (GRCm39)	C63*	probably null	Het
Usp45	G	A	4: 21,830,433 (GRCm39)	R696H	probably benign	Het
Zfyve27	G	A	19: 42,167,830 (GRCm39)	R124Q	probably damaging	Het

Other mutations in Or8j3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07