Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Or12j2'

585583

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

045630-MU

Accession Numbers

Essential gene?

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

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139915777-139916694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139915895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000149080 (fasta)

Gene Model

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

AlphaFold

Q7TRT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000172230
AA Change: N40S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: N40S

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 damaging
Transcript: ENSMUST00000214143
AA Change: N40S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214858
AA Change: N40S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,391,956 (GRCm39)	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498 (GRCm39)	T342S	probably damaging	Het
Alcam	A	G	16: 52,088,749 (GRCm39)	S554P	probably damaging	Het
Ano3	T	C	2: 110,780,638 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,060,390 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,139 (GRCm39)	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,795,484 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,795,463 (GRCm39)		probably benign	Het
Best1	T	A	19: 9,966,639 (GRCm39)		probably null	Het
Catip	G	T	1: 74,408,089 (GRCm39)	E474*	probably null	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crebbp	G	A	16: 3,944,353 (GRCm39)	R600W	probably benign	Het
Cyfip1	A	G	7: 55,521,997 (GRCm39)		probably null	Het
Ddr1	A	G	17: 35,995,174 (GRCm39)	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,926,898 (GRCm39)		probably null	Het
F2rl1	G	A	13: 95,650,522 (GRCm39)	A120V	probably damaging	Het
Fam136a	A	G	6: 86,342,784 (GRCm39)	N24D	probably benign	Het
Fbxw10	C	A	11: 62,765,994 (GRCm39)	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,268,657 (GRCm39)	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,807,119 (GRCm39)	K373E	probably benign	Het
Herc3	G	A	6: 58,820,795 (GRCm39)	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,713,477 (GRCm39)	K51*	probably null	Het
Krt23	T	A	11: 99,383,626 (GRCm39)	K89*	probably null	Het
Mavs	A	G	2: 131,087,395 (GRCm39)	T298A	probably benign	Het
Mlec	T	C	5: 115,288,181 (GRCm39)	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,386,689 (GRCm39)	N689K	probably benign	Het
Nfkbia	A	G	12: 55,538,546 (GRCm39)	I82T	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,496 (GRCm39)	I163V	probably benign	Het
Or7a35	A	T	10: 78,853,341 (GRCm39)	I62F	probably benign	Het
Or8b43	A	G	9: 38,360,942 (GRCm39)	Y258C	probably damaging	Het
Pom121l2	A	T	13: 22,166,796 (GRCm39)	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,168,096 (GRCm39)	L719Q	probably damaging	Het
Satb1	A	T	17: 52,089,752 (GRCm39)	V365D	possibly damaging	Het
Scrn2	T	C	11: 96,921,712 (GRCm39)	Y61H	probably damaging	Het
Siglec1	C	T	2: 130,914,602 (GRCm39)	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,356,802 (GRCm39)	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,874,290 (GRCm39)	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,404,939 (GRCm39)		probably null	Het
Slc6a6	T	G	6: 91,701,832 (GRCm39)	L80R	probably damaging	Het
Slit1	T	C	19: 41,590,074 (GRCm39)	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,059,121 (GRCm39)	E419G	probably damaging	Het
Ssh1	T	C	5: 114,095,441 (GRCm39)		probably null	Het
Stab1	C	A	14: 30,874,552 (GRCm39)	C952F	probably damaging	Het
Stat5a	T	C	11: 100,765,850 (GRCm39)	M312T	possibly damaging	Het
Tex2	A	G	11: 106,439,562 (GRCm39)	I606T	unknown	Het
Tex55	T	C	16: 38,648,809 (GRCm39)	E100G	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,813 (GRCm39)	H122R	possibly damaging	Het
Zfp959	A	G	17: 56,204,886 (GRCm39)	I308V	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
R1340:Or12j2	UTSW	7	139,916,038 (GRCm39)	missense	probably benign	0.10
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
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'- TGGAACTGGAGCATGTCTTTC -3'
(R):5'- CTCCCAGTGACCATGTGAAG -3'

Sequencing Primer
(F):5'- AACTGGAGCATGTCTTTCATCTTCAG -3'
(R):5'- TCCCAGTGACCATGTGAAGAAGAAG -3'

Posted On

2019-10-17