Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Or12j3'

710485

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

Accession Numbers

Essential gene?

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

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139952598-139953521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139952930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 198 (T198A)

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: T198A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: T198A

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 benign
Transcript: ENSMUST00000216727
AA Change: T198A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,613,884 (GRCm39)	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,479,271 (GRCm39)	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,963,608 (GRCm39)	E828D	probably damaging	Het
Ces1f	A	T	8: 93,996,600 (GRCm39)		probably null	Het
Cfap53	T	A	18: 74,432,414 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,877,983 (GRCm39)	Y1998C	probably damaging	Het
Col9a2	A	G	4: 120,911,948 (GRCm39)	T675A	probably benign	Het
Dusp6	G	A	10: 99,099,839 (GRCm39)	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,369,661 (GRCm39)	M22R	probably benign	Het
Fem1al	A	G	11: 29,775,107 (GRCm39)	S117P	probably damaging	Het
Gm19965	A	G	1: 116,749,566 (GRCm39)	N416D		Het
Gpr162	A	G	6: 124,838,357 (GRCm39)	Y98H	probably damaging	Het
Igfals	G	A	17: 25,100,600 (GRCm39)	V564I	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgb1	T	A	8: 129,433,637 (GRCm39)	N50K	probably benign	Het
Itpr3	A	T	17: 27,314,899 (GRCm39)	Y682F	possibly damaging	Het
Jak3	C	T	8: 72,136,696 (GRCm39)	P668S	probably damaging	Het
Malrd1	A	T	2: 15,707,967 (GRCm39)	N932I	unknown	Het
Mast4	C	A	13: 103,470,438 (GRCm39)	R88L	probably benign	Het
Mfsd11	T	G	11: 116,764,161 (GRCm39)	S381A	probably benign	Het
Mrm3	A	G	11: 76,140,856 (GRCm39)	D288G	probably damaging	Het
Myg1	G	T	15: 102,245,372 (GRCm39)	V198F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Npy6r	T	C	18: 44,408,759 (GRCm39)	I60T	probably damaging	Het
Or13p3	A	T	4: 118,567,353 (GRCm39)	M250L	probably benign	Het
Or4f57	G	T	2: 111,790,872 (GRCm39)	P182H	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or5k14	C	T	16: 58,692,976 (GRCm39)	C179Y	probably damaging	Het
Or6c215	G	A	10: 129,637,540 (GRCm39)	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,893,841 (GRCm39)		probably benign	Het
Oxtr	C	A	6: 112,466,310 (GRCm39)	R150L	probably damaging	Het
Pappa	A	T	4: 65,099,125 (GRCm39)	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,912,890 (GRCm39)	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,132,781 (GRCm39)	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,777,577 (GRCm39)	L81Q	probably damaging	Het
Prss3b	C	T	6: 41,010,079 (GRCm39)	G85D	probably benign	Het
Ptprf	C	A	4: 118,093,236 (GRCm39)	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,304 (GRCm39)	N322K	probably damaging	Het
Rev3l	T	A	10: 39,698,967 (GRCm39)	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,151,131 (GRCm39)	Y96C	probably damaging	Het
Runx1	C	T	16: 92,410,568 (GRCm39)	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,466,092 (GRCm39)	Q125P	probably damaging	Het
Skic3	A	G	13: 76,275,158 (GRCm39)	D403G	probably benign	Het
Spef2	A	T	15: 9,725,307 (GRCm39)	M150K	probably damaging	Het
Srcap	T	G	7: 127,141,455 (GRCm39)	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,283,365 (GRCm39)	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811 (GRCm39)	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,179,193 (GRCm39)	D4427G	possibly damaging	Het
Tg	T	A	15: 66,561,173 (GRCm39)	M1065K	probably benign	Het
Tgm2	T	C	2: 157,959,816 (GRCm39)	T656A	probably benign	Het
Ubr4	A	G	4: 139,153,235 (GRCm39)	K809E		Het
Vmn1r88	T	C	7: 12,912,546 (GRCm39)	S301P	probably damaging	Het
Wdr27	A	G	17: 15,111,980 (GRCm39)	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,193,131 (GRCm39)	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,887,920 (GRCm39)	I379N	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
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
Z1177:Or12j3	UTSW	7	139,952,716 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GCAATGAGTTTGTCCAGGAAC -3'
(R):5'- TGGCCCTTGCAACCTTTGTG -3'

Sequencing Primer
(F):5'- ATGAGTTTGTCCAGGAACCCAGC -3'
(R):5'- GTGGTTCACTGGAGCTCTCAATTC -3'

Posted On

2022-04-18