Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Or8j3c'

701131

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9244 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86253063-86254018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86253423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 199 (V199E)

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: V199E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: V199E

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 damaging
Transcript: ENSMUST00000217481
AA Change: V199E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,884,594 (GRCm39)	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Esco2	A	G	14: 66,059,088 (GRCm39)	W530R	probably damaging	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hfm1	A	C	5: 107,022,766 (GRCm39)	N945K	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Lrrn2	A	G	1: 132,865,058 (GRCm39)	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,865,237 (GRCm39)	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptgs1	A	G	2: 36,130,724 (GRCm39)	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	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
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
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'- GTCCGTGGTTGTAGATACATGAAG -3'
(R):5'- ACTGCTCTACATGGTGGTGG -3'

Sequencing Primer
(F):5'- TGTAGATACATGAAGAGAAGTGTGCC -3'
(R):5'- TCGACGGGTCTGCCTTCTG -3'

Posted On

2022-03-25