Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Or12j2'

157002

Institutional Source

Beutler Lab

Gene Symbol

Or12j2

Ensembl Gene

ENSMUSG00000062782

Gene Name

olfactory receptor family 12 subfamily J member 2

Synonyms

Olfr527, MOR251-5, GA_x6K02T2PBJ9-42486061-42486978

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139915777-139916694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139916038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 88 (T88A)

Ref Sequence

ENSEMBL: ENSMUSP00000149080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172230] [ENSMUST00000214143] [ENSMUST00000214858]

AlphaFold

Q7TRT9

Predicted Effect

probably benign
Transcript: ENSMUST00000172230
AA Change: T88A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: T88A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.8e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	179	9.1e-8	PFAM
Pfam:7tm_1	39	287	7.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214143
AA Change: T88A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214858
AA Change: T88A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

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
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Or12j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02818:Or12j2	APN	7	139,916,519 (GRCm39)	missense	possibly damaging	0.90
IGL02885:Or12j2	APN	7	139,916,072 (GRCm39)	missense	possibly damaging	0.94
R1711:Or12j2	UTSW	7	139,915,912 (GRCm39)	missense	possibly damaging	0.55
R1860:Or12j2	UTSW	7	139,916,132 (GRCm39)	missense	possibly damaging	0.78
R2042:Or12j2	UTSW	7	139,915,850 (GRCm39)	missense	probably damaging	1.00
R2072:Or12j2	UTSW	7	139,916,566 (GRCm39)	missense	possibly damaging	0.85
R2128:Or12j2	UTSW	7	139,916,342 (GRCm39)	missense	probably damaging	1.00
R2347:Or12j2	UTSW	7	139,916,060 (GRCm39)	missense	probably damaging	0.98
R2449:Or12j2	UTSW	7	139,916,345 (GRCm39)	missense	probably benign
R2973:Or12j2	UTSW	7	139,916,300 (GRCm39)	missense	probably damaging	1.00
R3151:Or12j2	UTSW	7	139,916,243 (GRCm39)	missense	probably benign	0.01
R4320:Or12j2	UTSW	7	139,916,219 (GRCm39)	missense	possibly damaging	0.94
R5561:Or12j2	UTSW	7	139,916,065 (GRCm39)	nonsense	probably null
R5566:Or12j2	UTSW	7	139,915,980 (GRCm39)	missense	probably damaging	1.00
R5891:Or12j2	UTSW	7	139,916,513 (GRCm39)	missense	probably benign	0.06
R7227:Or12j2	UTSW	7	139,915,534 (GRCm39)	start gained	probably benign
R7296:Or12j2	UTSW	7	139,916,654 (GRCm39)	missense	possibly damaging	0.91
R7568:Or12j2	UTSW	7	139,915,895 (GRCm39)	missense	probably damaging	1.00
R8000:Or12j2	UTSW	7	139,916,255 (GRCm39)	missense	possibly damaging	0.61
R8171:Or12j2	UTSW	7	139,916,143 (GRCm39)	missense	probably damaging	1.00
R8203:Or12j2	UTSW	7	139,915,939 (GRCm39)	missense	probably benign	0.14
R8351:Or12j2	UTSW	7	139,916,518 (GRCm39)	missense	probably damaging	1.00
R8451:Or12j2	UTSW	7	139,916,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTCAGAAATGCCTCACCTTCGG -3'
(R):5'- GATAGTCCAGACAATGCCAGCCAG -3'

Sequencing Primer
(F):5'- CAGCTTCCTCTGCCTATACATGG -3'
(R):5'- ATGCCAGCCAGGAATGC -3'

Posted On

2014-02-11