Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Or12j2'

635768

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

067626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139915777-139916694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139915939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 55 (T55S)

Ref Sequence

ENSEMBL: ENSMUSP00000129414 (fasta)

Gene Model

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

AlphaFold

Q7TRT9

Predicted Effect

probably benign
Transcript: ENSMUST00000172230
AA Change: T55S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: T55S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827 (GRCm39)	E185G	probably benign	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Dyrk4	A	G	6: 126,871,797 (GRCm39)	L157P	probably damaging	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Nipal4	A	T	11: 46,041,147 (GRCm39)	D349E	probably damaging	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Sar1b	A	G	11: 51,670,524 (GRCm39)	K23E	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably damaging	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
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
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'- AGGCCTCTCCAGCTTTATGATG -3'
(R):5'- GACAATGCCAGCCAGGAATG -3'

Sequencing Primer
(F):5'- CTCCAGCTTTATGATGAATGGGACAC -3'
(R):5'- CGGTCATAGGCCATAGCTGAG -3'

Posted On

2020-07-13