Incidental Mutation 'IGL03034:Or52p2'
ID 408593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52p2
Ensembl Gene ENSMUSG00000073974
Gene Name olfactory receptor family 52 subfamily P member 2
Synonyms Olfr551, MOR29-1, GA_x6K02T2PBJ9-5307445-5306498
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL03034
Quality Score
Status
Chromosome 7
Chromosomal Location 102236948-102238026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102237147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 268 (H268Y)
Ref Sequence ENSEMBL: ENSMUSP00000150582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098224] [ENSMUST00000213540] [ENSMUST00000216524]
AlphaFold Q8VG23
Predicted Effect probably benign
Transcript: ENSMUST00000098224
AA Change: H268Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: H268Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 2.8e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 152 2e-9 PFAM
Pfam:7tm_1 43 293 1.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213540
AA Change: H268Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216524
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign Het
Other mutations in Or52p2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Or52p2 APN 7 102,237,436 (GRCm39) nonsense probably null
IGL03076:Or52p2 APN 7 102,237,679 (GRCm39) missense probably benign
R0564:Or52p2 UTSW 7 102,237,738 (GRCm39) missense probably benign
R0890:Or52p2 UTSW 7 102,237,408 (GRCm39) nonsense probably null
R0909:Or52p2 UTSW 7 102,237,654 (GRCm39) missense probably damaging 1.00
R1053:Or52p2 UTSW 7 102,237,166 (GRCm39) nonsense probably null
R4708:Or52p2 UTSW 7 102,237,043 (GRCm39) missense probably benign 0.00
R4932:Or52p2 UTSW 7 102,237,623 (GRCm39) missense probably damaging 0.98
R6248:Or52p2 UTSW 7 102,237,237 (GRCm39) missense probably benign 0.00
R6343:Or52p2 UTSW 7 102,237,753 (GRCm39) missense probably damaging 0.98
R6389:Or52p2 UTSW 7 102,237,679 (GRCm39) missense probably benign
R6455:Or52p2 UTSW 7 102,237,878 (GRCm39) missense probably benign 0.00
R7305:Or52p2 UTSW 7 102,237,162 (GRCm39) missense possibly damaging 0.94
R7638:Or52p2 UTSW 7 102,237,125 (GRCm39) missense probably damaging 0.98
R7743:Or52p2 UTSW 7 102,237,638 (GRCm39) missense probably benign 0.32
R7792:Or52p2 UTSW 7 102,238,090 (GRCm39) start gained probably benign
R8855:Or52p2 UTSW 7 102,237,945 (GRCm39) missense probably benign
Z1177:Or52p2 UTSW 7 102,237,929 (GRCm39) missense probably benign 0.34
Posted On 2016-08-02