Mutagenetix > Incidental Mutation

Incidental Mutation 'R4243:Or12j3'

320298

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

041643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139952598-139953521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139952857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 222 (A222V)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

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

AlphaFold

Q8VFE8

Predicted Effect

probably benign
Transcript: ENSMUST00000074177
AA Change: A222V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: A222V

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

noncoding transcript
Transcript: ENSMUST00000211097

Predicted Effect

probably benign
Transcript: ENSMUST00000216727
AA Change: A222V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	C	A	5: 114,951,855 (GRCm39)	R40L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,733,203 (GRCm39)		noncoding transcript	Het
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
4933409G03Rik	C	T	2: 68,423,887 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
Birc2	T	C	9: 7,834,386 (GRCm39)	T32A	probably benign	Het
Cdh13	T	A	8: 119,968,996 (GRCm39)	V451E	probably damaging	Het
Cdh20	C	T	1: 104,869,868 (GRCm39)	T196I	probably damaging	Het
Cdt1	A	G	8: 123,298,157 (GRCm39)	M383V	probably benign	Het
Chrna9	T	C	5: 66,092,379 (GRCm39)		probably null	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,795,141 (GRCm39)	S959P	probably benign	Het
Ctbp2	A	G	7: 132,600,583 (GRCm39)	I647T	probably benign	Het
Cyld	A	T	8: 89,457,383 (GRCm39)	R536*	probably null	Het
Ddx1	A	T	12: 13,290,910 (GRCm39)	C68*	probably null	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Dynlt1b	T	C	17: 6,697,639 (GRCm39)		probably null	Het
Faxc	G	A	4: 21,982,491 (GRCm39)	R310Q	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Frmd5	C	A	2: 121,393,363 (GRCm39)		probably null	Het
Gm5174	C	A	10: 86,492,144 (GRCm39)		noncoding transcript	Het
Hspa12b	C	T	2: 130,983,778 (GRCm39)	H293Y	possibly damaging	Het
Jakmip2	A	G	18: 43,710,501 (GRCm39)	V234A	probably benign	Het
Jkamp	G	A	12: 72,140,799 (GRCm39)	V108I	probably benign	Het
Mettl23	T	C	11: 116,739,126 (GRCm39)	V72A	possibly damaging	Het
Morc2b	T	A	17: 33,355,375 (GRCm39)	Y799F	probably benign	Het
Mtmr11	T	A	3: 96,075,393 (GRCm39)	C358S	probably damaging	Het
Myo18b	G	A	5: 112,840,261 (GRCm39)	H2511Y	possibly damaging	Het
Mysm1	A	G	4: 94,857,248 (GRCm39)	V120A	probably benign	Het
Nhlrc1	C	T	13: 47,167,502 (GRCm39)	V252I	probably benign	Het
Or2ak6	T	G	11: 58,593,277 (GRCm39)	L250R	probably damaging	Het
Or7g35	C	A	9: 19,495,854 (GRCm39)	T7K	probably damaging	Het
Pard3	G	A	8: 128,098,128 (GRCm39)	A390T	probably benign	Het
Pcdhga1	T	A	18: 37,796,605 (GRCm39)	D536E	probably damaging	Het
Phactr3	G	A	2: 177,924,982 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,526,339 (GRCm39)	N413D	possibly damaging	Het
Ppp1r12b	T	G	1: 134,709,846 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,083,649 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,304 (GRCm39)		probably null	Het
Rasa1	A	G	13: 85,392,314 (GRCm39)	Y407H	probably damaging	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Slc27a1	A	G	8: 72,037,617 (GRCm39)	T535A	probably benign	Het
Stra6	G	A	9: 58,050,309 (GRCm39)	A237T	probably benign	Het
Tor1aip2	A	G	1: 155,941,182 (GRCm39)	E496G	probably damaging	Het
Usp47	A	G	7: 111,707,836 (GRCm39)	D1294G	probably damaging	Het
Utp20	A	G	10: 88,643,187 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,971 (GRCm39)	C284*	probably null	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zbtb40	C	T	4: 136,745,860 (GRCm39)	A58T	probably benign	Het
Zfhx3	A	G	8: 109,518,952 (GRCm39)	T25A	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
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
R8081:Or12j3	UTSW	7	139,952,972 (GRCm39)	missense	probably damaging	1.00
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'- GTCACAGTGGTGTACAGAACAG -3'
(R):5'- GGTTCACTGGAGCTCTCAATTC -3'

Sequencing Primer
(F):5'- GCAATGAGTTTGTCCAGGAACCC -3'
(R):5'- ACTGGAGCTCTCAATTCCTTGGTG -3'

Posted On

2015-06-12