Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Or12j3'

629344

Institutional Source

Beutler Lab

Gene Symbol

Or12j3

Ensembl Gene

ENSMUSG00000060974

Gene Name

olfactory receptor family 12 subfamily J member 3

Synonyms

Olfr530, GA_x6K02T2PBJ9-42523824-42522901, MOR252-2

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139952598-139953521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139952972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 184 (L184M)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]

AlphaFold

Q8VFE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000074177
AA Change: L184M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: L184M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	4.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.8e-6	PFAM
Pfam:7tm_1	41	289	1.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216727
AA Change: L184M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	probably damaging	Het

Other mutations in Or12j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Or12j3	APN	7	139,953,098 (GRCm39)	missense	probably benign	0.01
IGL01785:Or12j3	APN	7	139,953,038 (GRCm39)	missense	probably benign
IGL01786:Or12j3	APN	7	139,953,038 (GRCm39)	missense	probably benign
IGL03087:Or12j3	APN	7	139,953,005 (GRCm39)	missense	probably damaging	1.00
R0543:Or12j3	UTSW	7	139,953,307 (GRCm39)	missense	probably benign	0.07
R0634:Or12j3	UTSW	7	139,953,310 (GRCm39)	missense	possibly damaging	0.88
R1470:Or12j3	UTSW	7	139,953,026 (GRCm39)	missense	probably benign	0.03
R1470:Or12j3	UTSW	7	139,953,026 (GRCm39)	missense	probably benign	0.03
R1553:Or12j3	UTSW	7	139,952,951 (GRCm39)	missense	probably damaging	1.00
R1702:Or12j3	UTSW	7	139,952,655 (GRCm39)	nonsense	probably null
R1767:Or12j3	UTSW	7	139,953,389 (GRCm39)	missense	possibly damaging	0.95
R2379:Or12j3	UTSW	7	139,952,748 (GRCm39)	nonsense	probably null
R4243:Or12j3	UTSW	7	139,952,857 (GRCm39)	missense	probably benign	0.01
R4281:Or12j3	UTSW	7	139,953,385 (GRCm39)	missense	probably benign	0.10
R4717:Or12j3	UTSW	7	139,953,328 (GRCm39)	missense	probably damaging	0.99
R4923:Or12j3	UTSW	7	139,952,920 (GRCm39)	missense	probably benign	0.11
R5763:Or12j3	UTSW	7	139,953,568 (GRCm39)	critical splice acceptor site	probably null
R6126:Or12j3	UTSW	7	139,953,166 (GRCm39)	missense	probably damaging	1.00
R6528:Or12j3	UTSW	7	139,953,354 (GRCm39)	missense	possibly damaging	0.81
R7469:Or12j3	UTSW	7	139,953,050 (GRCm39)	missense	possibly damaging	0.93
R8881:Or12j3	UTSW	7	139,952,698 (GRCm39)	missense	probably benign	0.01
R8922:Or12j3	UTSW	7	139,953,389 (GRCm39)	missense	possibly damaging	0.88
R9161:Or12j3	UTSW	7	139,952,989 (GRCm39)	missense	probably damaging	1.00
R9389:Or12j3	UTSW	7	139,952,930 (GRCm39)	missense	probably benign	0.02
Z1177:Or12j3	UTSW	7	139,952,716 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CTGGCCGGACATAAGTATAGAGAAC -3'
(R):5'- CTACCTTGCAATCTGTCGGC -3'

Sequencing Primer
(F):5'- GGTGACCACAACCAGGTG -3'
(R):5'- TGTCGGCCACTGCACTATG -3'

Posted On

2020-06-30