Incidental Mutation 'R2347:Or12j2'
ID 246005
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2347 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139915777-139916694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139916060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 95 (M95K)
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: M95K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: M95K

DomainStartEndE-ValueType
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: M95K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214858
AA Change: M95K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Ddx6 A G 9: 44,518,888 (GRCm39) K67E probably benign Het
Fut2 T C 7: 45,299,752 (GRCm39) D340G probably damaging Het
Gm128 A G 3: 95,148,241 (GRCm39) Y18H probably benign Het
Gon4l A G 3: 88,770,824 (GRCm39) D502G probably damaging Het
Lman2 T A 13: 55,500,812 (GRCm39) N129I possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4c52 G T 2: 89,845,958 (GRCm39) R228L possibly damaging Het
Or8g21 A T 9: 38,905,805 (GRCm39) *309K probably null Het
Pappa2 C A 1: 158,592,613 (GRCm39) C1588F probably damaging Het
Piwil2 T C 14: 70,646,366 (GRCm39) D390G probably damaging Het
Rest A G 5: 77,416,440 (GRCm39) Y218C probably damaging Het
Other mutations in Or12j2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGGCTGCAATCTCAGGAAAC -3'
(R):5'- CTGCAGAATGGTAGACGCAAC -3'

Sequencing Primer
(F):5'- GCTGCAATCTCAGGAAACTTGCTC -3'
(R):5'- TAGACGCAACATCAGGCCTGTG -3'
Posted On 2014-10-30