Incidental Mutation 'R2973:Or12j2'
ID 255284
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 040526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2973 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 139915777-139916694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139916300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 175 (F175C)
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: F175C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: F175C

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: F175C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214858
AA Change: F175C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2823 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Dhx36 T A 3: 62,402,916 (GRCm39) N279Y probably benign Het
Dhx36 C G 3: 62,402,919 (GRCm39) G278R possibly damaging Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Lrrc42 A T 4: 107,096,311 (GRCm39) D40E probably damaging Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Ppef2 T C 5: 92,386,953 (GRCm39) E328G probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A 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
R2347:Or12j2 UTSW 7 139,916,060 (GRCm39) missense probably damaging 0.98
R2449:Or12j2 UTSW 7 139,916,345 (GRCm39) missense probably benign
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'- TGGCCTATGACCGCTTTGTG -3'
(R):5'- GTACATGGTGACCACGATAAGG -3'

Sequencing Primer
(F):5'- ATGACCGCTTTGTGGCCATC -3'
(R):5'- TGACCACGATAAGGTGTGC -3'
Posted On 2014-12-29