Incidental Mutation 'R2379:Or12j3'
ID 248387
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 040355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2379 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139952598-139953521 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 139952748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 258 (Y258*)
Ref Sequence ENSEMBL: ENSMUSP00000149475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]
AlphaFold Q8VFE8
Predicted Effect probably null
Transcript: ENSMUST00000074177
AA Change: Y258*
SMART Domains Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: Y258*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000216727
AA Change: Y258*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 93% (37/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,299,305 (GRCm39) probably benign Het
Anpep T C 7: 79,490,966 (GRCm39) T209A probably benign Het
Asb16 A G 11: 102,163,357 (GRCm39) T116A probably benign Het
Brd10 G T 19: 29,696,275 (GRCm39) Q1140K probably benign Het
Btc A T 5: 91,524,768 (GRCm39) probably benign Het
C4b T C 17: 34,954,717 (GRCm39) D860G possibly damaging Het
Cd177 G A 7: 24,457,468 (GRCm39) T191I possibly damaging Het
Cngb1 A G 8: 95,986,758 (GRCm39) L378P probably damaging Het
Ddx60 T C 8: 62,490,122 (GRCm39) F1697S probably damaging Het
Dop1a G A 9: 86,403,138 (GRCm39) S1446N probably damaging Het
Fn1 T A 1: 71,688,443 (GRCm39) K154* probably null Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Ifi204 T A 1: 173,583,559 (GRCm39) R220* probably null Het
Limk1 A G 5: 134,708,335 (GRCm39) probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mms22l T A 4: 24,496,929 (GRCm39) S8T possibly damaging Het
Mpp7 T A 18: 7,403,345 (GRCm39) R322* probably null Het
Mycbp2 T C 14: 103,412,386 (GRCm39) N2529S probably benign Het
Npr3 A G 15: 11,883,449 (GRCm39) F327L probably damaging Het
Or14c41 T G 7: 86,235,400 (GRCm39) F306V probably benign Het
Or14c46 T C 7: 85,918,857 (GRCm39) T47A probably damaging Het
Or51f5 A T 7: 102,424,052 (GRCm39) H107L probably benign Het
Or5p1 T C 7: 107,916,499 (GRCm39) S133P probably benign Het
Or6c217 A T 10: 129,737,781 (GRCm39) V266E probably damaging Het
Or7e177 T C 9: 20,211,963 (GRCm39) S157P possibly damaging Het
Pld2 A T 11: 70,445,140 (GRCm39) Y580F probably benign Het
Scart2 A T 7: 139,879,682 (GRCm39) D990V probably benign Het
Sik3 A G 9: 46,066,707 (GRCm39) E162G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spen T C 4: 141,244,238 (GRCm39) T266A unknown Het
Tnks1bp1 A G 2: 84,894,182 (GRCm39) S1370G probably benign Het
Usp28 A G 9: 48,914,395 (GRCm39) R99G probably null Het
Vmn2r13 T G 5: 109,319,644 (GRCm39) E445D probably benign Het
Vmn2r27 A G 6: 124,201,342 (GRCm39) I205T possibly damaging Het
Other mutations in Or12j3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1553:Or12j3 UTSW 7 139,952,951 (GRCm39) missense probably damaging 1.00
R1702:Or12j3 UTSW 7 139,952,655 (GRCm39) nonsense probably null
R1767:Or12j3 UTSW 7 139,953,389 (GRCm39) missense possibly damaging 0.95
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'- GTGCCCTACAGAGTCAGAAAAG -3'
(R):5'- TACAGACATGTTCCTGACAGGC -3'

Sequencing Primer
(F):5'- GAAGGCTTGAATGAACTTATTAGCTC -3'
(R):5'- TGTTCCTGACAGGCCTAAAC -3'
Posted On 2014-11-11