Incidental Mutation 'IGL03061:Or52k2'
ID 409440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52k2
Ensembl Gene ENSMUSG00000073973
Gene Name olfactory receptor family 52 subfamily K member 2
Synonyms GA_x6K02T2PBJ9-5323062-5324015, Olfr552, MOR28-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL03061
Quality Score
Status
Chromosome 7
Chromosomal Location 102253563-102254516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102253946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 128 (I128M)
Ref Sequence ENSEMBL: ENSMUSP00000150317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098223] [ENSMUST00000215712]
AlphaFold E9Q545
Predicted Effect probably damaging
Transcript: ENSMUST00000098223
AA Change: I128M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: I128M

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 6e-118 PFAM
Pfam:7TM_GPCR_Srsx 37 270 4.4e-8 PFAM
Pfam:7tm_1 43 294 9.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215712
AA Change: I128M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Or52k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or52k2 APN 7 102,253,564 (GRCm39) start codon destroyed probably null 0.99
R0989:Or52k2 UTSW 7 102,253,690 (GRCm39) missense probably damaging 1.00
R1513:Or52k2 UTSW 7 102,254,509 (GRCm39) missense probably benign 0.09
R1969:Or52k2 UTSW 7 102,253,777 (GRCm39) missense probably damaging 0.99
R3177:Or52k2 UTSW 7 102,253,783 (GRCm39) missense possibly damaging 0.94
R3277:Or52k2 UTSW 7 102,253,783 (GRCm39) missense possibly damaging 0.94
R4019:Or52k2 UTSW 7 102,253,849 (GRCm39) missense probably damaging 1.00
R4028:Or52k2 UTSW 7 102,254,500 (GRCm39) missense possibly damaging 0.62
R5216:Or52k2 UTSW 7 102,254,028 (GRCm39) missense probably benign 0.00
R5444:Or52k2 UTSW 7 102,254,076 (GRCm39) nonsense probably null
R5461:Or52k2 UTSW 7 102,253,615 (GRCm39) missense probably damaging 0.99
R7706:Or52k2 UTSW 7 102,253,853 (GRCm39) missense probably benign 0.12
R8348:Or52k2 UTSW 7 102,254,207 (GRCm39) missense probably benign 0.01
R8448:Or52k2 UTSW 7 102,254,207 (GRCm39) missense probably benign 0.01
R8919:Or52k2 UTSW 7 102,253,711 (GRCm39) missense probably damaging 1.00
R8933:Or52k2 UTSW 7 102,253,637 (GRCm39) missense probably damaging 1.00
R9009:Or52k2 UTSW 7 102,253,642 (GRCm39) missense probably benign 0.00
R9139:Or52k2 UTSW 7 102,254,185 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02