Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Or12j3'

170082

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

039592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139952598-139953521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139952951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 191 (T191S)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]

AlphaFold

Q8VFE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000074177
AA Change: T191S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: T191S

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

noncoding transcript
Transcript: ENSMUST00000211097

Predicted Effect

probably damaging
Transcript: ENSMUST00000216727
AA Change: T191S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Chil4	T	G	3: 106,111,006 (GRCm39)	N296T	probably benign	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,192,462 (GRCm39)	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Naalad2	T	C	9: 18,289,965 (GRCm39)	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Stub1	A	T	17: 26,051,097 (GRCm39)	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	probably benign	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
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
R9389:Or12j3	UTSW	7	139,952,930 (GRCm39)	missense	probably benign	0.02
Z1177:Or12j3	UTSW	7	139,952,716 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AATGAGTTTGTCCAGGAACCCAGC -3'
(R):5'- TACCTTGCAATCTGTCGGCCAC -3'

Sequencing Primer
(F):5'- TAATAAAGGGTGACCACAACCAG -3'
(R):5'- AATCTGTCGGCCACTGCAC -3'

Posted On

2014-04-13