Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Or12j2'

225082

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

040049-MU

Accession Numbers

Essential gene?

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

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139915777-139916694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139915850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 25 (L25P)

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: L25P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: L25P

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: L25P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214858
AA Change: L25P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly 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
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'- GTCTCAACACATCTGCATTGGG -3'
(R):5'- CCCGTAAGAGATGGTCCTTC -3'

Sequencing Primer
(F):5'- CAACACATCTGCATTGGGTCGTTAG -3'
(R):5'- AAGAGATGGTCCTTCCTGTCATCATG -3'

Posted On

2014-08-25