Incidental Mutation 'IGL02885:Or12j2'
ID 362965
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02885
Quality Score
Status
Chromosome 7
Chromosomal Location 139915777-139916694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139916072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 99 (F99S)
Ref Sequence ENSEMBL: ENSMUSP00000149080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172230] [ENSMUST00000214143] [ENSMUST00000214858]
AlphaFold Q7TRT9
Predicted Effect possibly damaging
Transcript: ENSMUST00000172230
AA Change: F99S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: F99S

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 possibly damaging
Transcript: ENSMUST00000214143
AA Change: F99S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214858
AA Change: F99S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,152 (GRCm39) N683S probably benign Het
Ahi1 T A 10: 20,931,012 (GRCm39) F46I possibly damaging Het
Als2 C T 1: 59,206,650 (GRCm39) V1598I probably benign Het
Arid1b A T 17: 5,392,428 (GRCm39) D1986V probably damaging Het
Bhlhe41 T A 6: 145,810,989 (GRCm39) D2V probably damaging Het
Borcs6 A G 11: 68,951,072 (GRCm39) D150G possibly damaging Het
Ccdc88a G T 11: 29,398,050 (GRCm39) R261L probably damaging Het
Ccne2 T A 4: 11,198,723 (GRCm39) probably benign Het
Cenpk A G 13: 104,385,903 (GRCm39) D266G probably damaging Het
Ces2b T C 8: 105,561,563 (GRCm39) V219A probably damaging Het
Cpa1 A G 6: 30,645,169 (GRCm39) R382G probably damaging Het
Cplx4 G T 18: 66,089,984 (GRCm39) T145N probably damaging Het
Cyp19a1 T C 9: 54,079,102 (GRCm39) I269V probably benign Het
Dennd3 A G 15: 73,440,545 (GRCm39) Y1192C probably benign Het
Dpp6 T C 5: 27,923,471 (GRCm39) Y694H probably damaging Het
Eea1 C A 10: 95,877,346 (GRCm39) N1353K probably benign Het
Fam111a T A 19: 12,561,488 (GRCm39) probably null Het
Fat1 T C 8: 45,442,204 (GRCm39) S1169P probably benign Het
Frk G T 10: 34,360,067 (GRCm39) A23S probably benign Het
Fyb2 T C 4: 104,861,118 (GRCm39) V594A probably damaging Het
Gtpbp3 C A 8: 71,942,064 (GRCm39) probably benign Het
Hoxa5 G T 6: 52,179,688 (GRCm39) A229D probably damaging Het
Ift25 G A 4: 107,130,866 (GRCm39) C52Y possibly damaging Het
Igf2r A T 17: 12,913,007 (GRCm39) F1780L possibly damaging Het
Jade2 A T 11: 51,722,123 (GRCm39) D143E probably damaging Het
Kdm1a T C 4: 136,279,846 (GRCm39) I719V probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lmx1b G T 2: 33,457,216 (GRCm39) Q206K probably benign Het
Lrrtm4 G A 6: 79,998,786 (GRCm39) G66D probably damaging Het
Myg1 G T 15: 102,240,594 (GRCm39) G90C probably damaging Het
Nbea C T 3: 55,539,407 (GRCm39) V2785I probably benign Het
Ncr1 C A 7: 4,341,225 (GRCm39) P35Q probably damaging Het
Nos1 T A 5: 118,033,855 (GRCm39) C326S probably damaging Het
Or3a1 G T 11: 74,225,519 (GRCm39) H179Q possibly damaging Het
Or52r1 A T 7: 102,537,243 (GRCm39) V39E possibly damaging Het
Pde4d A G 13: 110,084,795 (GRCm39) Y520C probably damaging Het
Ppm1d A G 11: 85,217,770 (GRCm39) M178V possibly damaging Het
Samd3 G A 10: 26,147,762 (GRCm39) R479K probably benign Het
Semp2l2b T A 10: 21,943,057 (GRCm39) I308F possibly damaging Het
Serpinb6a A G 13: 34,102,782 (GRCm39) V226A probably benign Het
Slc26a4 T C 12: 31,575,475 (GRCm39) E737G probably benign Het
Slc34a3 A G 2: 25,121,069 (GRCm39) C340R probably damaging Het
Spata31d1b C A 13: 59,866,941 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,013 (GRCm39) V173A probably benign Het
Vmn2r66 A T 7: 84,644,723 (GRCm39) D562E probably benign Het
Zfp395 C T 14: 65,633,344 (GRCm39) P451L probably benign Het
Other mutations in Or12j2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02818:Or12j2 APN 7 139,916,519 (GRCm39) missense possibly damaging 0.90
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
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
Posted On 2015-12-18