Mutagenetix > Incidental Mutation

Incidental Mutation 'R6335:Or1j12'

512885

Institutional Source

Beutler Lab

Gene Symbol

Or1j12

Ensembl Gene

ENSMUSG00000094266

Gene Name

olfactory receptor family 1 subfamily J member 12

Synonyms

MOR136-1, GA_x6K02T2NLDC-33147742-33148680, Olfr340

MMRRC Submission

044489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36342599-36343537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36342734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 46 (I46V)

Ref Sequence

ENSEMBL: ENSMUSP00000072632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072854]

AlphaFold

Q8VGL0

Predicted Effect

probably benign
Transcript: ENSMUST00000072854
AA Change: I46V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072632
Gene: ENSMUSG00000094266
AA Change: I46V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	5.8e-6	PFAM
Pfam:7tm_1	41	290	1.4e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (59/59)

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
Atp11a	T	C	8: 12,909,481 (GRCm39)		probably null	Het
Best3	G	T	10: 116,838,556 (GRCm39)	V205F	probably benign	Het
C1qtnf1	A	G	11: 118,338,960 (GRCm39)	H210R	probably damaging	Het
Camkv	T	C	9: 107,823,894 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,849 (GRCm39)	D1200E	possibly damaging	Het
Cep192	T	A	18: 67,967,784 (GRCm39)	I756N	probably damaging	Het
Crocc2	A	T	1: 93,130,560 (GRCm39)	Q947L	probably benign	Het
Dcaf1	A	G	9: 106,715,845 (GRCm39)	T321A	possibly damaging	Het
Dgkz	T	C	2: 91,774,724 (GRCm39)	M87V	probably benign	Het
Dmrt2	T	A	19: 25,650,935 (GRCm39)	S40R	possibly damaging	Het
Dpep1	T	G	8: 123,927,391 (GRCm39)	L315R	probably damaging	Het
Fam221b	G	T	4: 43,665,942 (GRCm39)	T223N	possibly damaging	Het
Fasn	A	T	11: 120,706,185 (GRCm39)	V1053E	probably damaging	Het
Galc	T	C	12: 98,208,973 (GRCm39)	D227G	probably damaging	Het
Grik1	A	G	16: 87,744,794 (GRCm39)	L486P	probably damaging	Het
Grik5	A	G	7: 24,713,019 (GRCm39)	S836P	probably benign	Het
Grpel2	T	C	18: 61,852,792 (GRCm39)	K70R	possibly damaging	Het
Ipo7	A	G	7: 109,617,675 (GRCm39)	D15G	possibly damaging	Het
Iqgap1	A	G	7: 80,377,772 (GRCm39)	Y1284H	probably damaging	Het
Lmo7	T	C	14: 102,138,072 (GRCm39)	S692P	probably damaging	Het
Mecom	A	G	3: 30,034,905 (GRCm39)	L447P	probably damaging	Het
Mtor	A	G	4: 148,550,384 (GRCm39)	D680G	probably damaging	Het
Muc16	T	A	9: 18,572,004 (GRCm39)	I172F	unknown	Het
Musk	A	G	4: 58,366,811 (GRCm39)	I476M	probably benign	Het
Myef2	T	C	2: 124,951,632 (GRCm39)	T268A	probably damaging	Het
Naip1	A	G	13: 100,563,060 (GRCm39)	S702P	probably damaging	Het
Napa	G	T	7: 15,849,562 (GRCm39)	S258I	probably benign	Het
Nfasc	T	A	1: 132,504,132 (GRCm39)	I1039F	probably damaging	Het
Nlrc5	A	G	8: 95,228,902 (GRCm39)	S1238G	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or5w8	T	A	2: 87,687,811 (GRCm39)	C97*	probably null	Het
Pacs1	G	T	19: 5,210,005 (GRCm39)	N215K	probably damaging	Het
Parp10	A	G	15: 76,126,388 (GRCm39)	S267P	probably benign	Het
Pbrm1	G	T	14: 30,806,052 (GRCm39)	C995F	probably damaging	Het
Pcdh7	A	T	5: 58,099,607 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,383,613 (GRCm39)	Y499C	probably damaging	Het
Pramel16	G	T	4: 143,675,602 (GRCm39)	T408K	probably benign	Het
Prex2	A	C	1: 11,180,544 (GRCm39)	I370L	probably benign	Het
Ptprd	A	G	4: 75,872,420 (GRCm39)	Y1350H	probably damaging	Het
Rasgrp1	T	C	2: 117,124,351 (GRCm39)	K284E	probably damaging	Het
Rexo1	A	T	10: 80,379,915 (GRCm39)	Y23N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sash3	C	T	X: 47,248,398 (GRCm39)	L307F	probably damaging	Homo
Scn9a	T	A	2: 66,398,608 (GRCm39)	M1L	possibly damaging	Het
Serpinb6e	C	A	13: 34,021,805 (GRCm39)	L174F	probably benign	Het
Siae	C	T	9: 37,544,277 (GRCm39)	T275I	probably benign	Het
Sptbn5	C	A	2: 119,884,900 (GRCm39)		probably benign	Het
Ss18l2	C	T	9: 121,541,672 (GRCm39)	T55I	probably damaging	Het
Taf1c	A	G	8: 120,328,518 (GRCm39)	C163R	probably damaging	Het
Tanc2	C	T	11: 105,748,382 (GRCm39)	R505W	probably damaging	Het
Tango6	C	A	8: 107,419,308 (GRCm39)	P285Q	possibly damaging	Het
Tdrd9	G	T	12: 112,008,186 (GRCm39)		probably null	Het
Tead3	A	T	17: 28,552,299 (GRCm39)	L307H	probably damaging	Het
Ticrr	A	C	7: 79,344,031 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,224,995 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,264,135 (GRCm39)	T194S	probably benign	Het
Vav3	A	G	3: 109,470,512 (GRCm39)	N566S	probably benign	Het
Vmn1r196	T	A	13: 22,477,887 (GRCm39)	S175R	probably benign	Het
Zscan29	T	C	2: 120,991,917 (GRCm39)	N589D	possibly damaging	Het

Other mutations in Or1j12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Or1j12	APN	2	36,342,656 (GRCm39)	nonsense	probably null
IGL01590:Or1j12	APN	2	36,343,004 (GRCm39)	missense	probably benign	0.39
IGL01614:Or1j12	APN	2	36,342,636 (GRCm39)	missense	probably benign	0.32
IGL02470:Or1j12	APN	2	36,342,609 (GRCm39)	missense	probably benign	0.00
IGL02943:Or1j12	APN	2	36,343,051 (GRCm39)	missense	probably benign	0.05
R0089:Or1j12	UTSW	2	36,343,107 (GRCm39)	missense	probably benign	0.00
R0600:Or1j12	UTSW	2	36,342,660 (GRCm39)	missense	probably benign	0.06
R0881:Or1j12	UTSW	2	36,343,452 (GRCm39)	missense	probably damaging	1.00
R1945:Or1j12	UTSW	2	36,343,043 (GRCm39)	missense	probably damaging	1.00
R2184:Or1j12	UTSW	2	36,343,046 (GRCm39)	missense	probably benign
R2196:Or1j12	UTSW	2	36,342,600 (GRCm39)	start codon destroyed	probably null	1.00
R2419:Or1j12	UTSW	2	36,343,338 (GRCm39)	missense	probably damaging	1.00
R2859:Or1j12	UTSW	2	36,343,142 (GRCm39)	missense	probably benign	0.01
R2964:Or1j12	UTSW	2	36,342,779 (GRCm39)	missense	probably damaging	1.00
R4677:Or1j12	UTSW	2	36,343,062 (GRCm39)	missense	probably benign	0.00
R4867:Or1j12	UTSW	2	36,343,211 (GRCm39)	missense	probably benign
R5468:Or1j12	UTSW	2	36,343,455 (GRCm39)	missense	probably damaging	0.99
R5582:Or1j12	UTSW	2	36,343,233 (GRCm39)	missense	probably benign	0.03
R6415:Or1j12	UTSW	2	36,342,617 (GRCm39)	missense	probably damaging	0.99
R6664:Or1j12	UTSW	2	36,343,110 (GRCm39)	missense	probably benign	0.00
R6873:Or1j12	UTSW	2	36,343,508 (GRCm39)	missense	probably benign	0.00
R7097:Or1j12	UTSW	2	36,342,702 (GRCm39)	missense	probably damaging	1.00
R7122:Or1j12	UTSW	2	36,342,702 (GRCm39)	missense	probably damaging	1.00
R7199:Or1j12	UTSW	2	36,342,872 (GRCm39)	missense	probably damaging	1.00
R7275:Or1j12	UTSW	2	36,342,851 (GRCm39)	missense	probably benign	0.05
R7812:Or1j12	UTSW	2	36,343,290 (GRCm39)	missense	probably benign	0.00
R8260:Or1j12	UTSW	2	36,342,897 (GRCm39)	missense	probably damaging	1.00
R9061:Or1j12	UTSW	2	36,342,897 (GRCm39)	missense	probably damaging	1.00
Z1088:Or1j12	UTSW	2	36,342,918 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGGCATCTTGATCTACAACTGGG -3'
(R):5'- TGGAGGTCAGAAGAAAGCTCTC -3'

Sequencing Primer
(F):5'- GATCTACAACTGGGTCTCATCTG -3'
(R):5'- GTCAGAAGAAAGCTCTCAAGATCAGC -3'

Posted On

2018-04-27