Incidental Mutation 'IGL02454:Or52d1'
ID 293766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52d1
Ensembl Gene ENSMUSG00000073931
Gene Name olfactory receptor family 52 subfamily D member 1
Synonyms Olfr646, MOR33-2, GA_x6K02T2PBJ9-6841330-6842268
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL02454
Quality Score
Status
Chromosome 7
Chromosomal Location 103754080-103758973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103755819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 111 (V111A)
Ref Sequence ENSEMBL: ENSMUSP00000149102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]
AlphaFold Q8VGW2
Predicted Effect probably damaging
Transcript: ENSMUST00000098182
AA Change: V111A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: V111A

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 1.9e-109 PFAM
Pfam:7TM_GPCR_Srsx 32 225 6.1e-10 PFAM
Pfam:7tm_1 38 290 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214099
AA Change: V111A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214291
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amz2 T G 11: 109,324,887 (GRCm39) probably benign Het
Atp13a5 A G 16: 29,051,560 (GRCm39) F1104S probably benign Het
Cacna1c T C 6: 118,579,141 (GRCm39) N1610S probably damaging Het
Ccnl1 A T 3: 65,864,318 (GRCm39) D122E probably damaging Het
Crtc2 G A 3: 90,166,474 (GRCm39) G65S probably benign Het
Dnah17 T C 11: 117,971,593 (GRCm39) T2160A probably damaging Het
Fads3 T G 19: 10,032,483 (GRCm39) L278R probably damaging Het
Foxp4 A T 17: 48,186,507 (GRCm39) L424* probably null Het
Gm10392 A T 11: 77,409,216 (GRCm39) E310V probably damaging Het
Gm11554 T A 11: 99,694,815 (GRCm39) S133C unknown Het
Hacd2 T A 16: 34,926,761 (GRCm39) F253L probably benign Het
Il3ra T C 14: 14,351,113 (GRCm38) S212P probably benign Het
Mdn1 T C 4: 32,694,674 (GRCm39) probably null Het
Mtfr1l A T 4: 134,257,696 (GRCm39) L111H probably damaging Het
Mysm1 A G 4: 94,858,741 (GRCm39) probably benign Het
Or10j2 C A 1: 173,098,507 (GRCm39) S255Y probably damaging Het
Plec A T 15: 76,075,231 (GRCm39) F357I probably damaging Het
Polr3a C A 14: 24,525,891 (GRCm39) V450L possibly damaging Het
Prkd1 T C 12: 50,411,456 (GRCm39) K764R probably benign Het
Pxn C T 5: 115,690,325 (GRCm39) P256S probably damaging Het
Rbm25 T A 12: 83,707,096 (GRCm39) F247L probably benign Het
Rfx4 C T 10: 84,675,970 (GRCm39) T62M possibly damaging Het
Rps4l-ps T C 7: 114,526,499 (GRCm39) noncoding transcript Het
Scn11a A G 9: 119,587,610 (GRCm39) I1378T probably benign Het
Siglecg T C 7: 43,058,319 (GRCm39) S69P probably benign Het
Stox1 T C 10: 62,503,605 (GRCm39) Y61C probably damaging Het
Tex55 T A 16: 38,648,309 (GRCm39) T267S probably benign Het
Tnks C T 8: 35,298,882 (GRCm39) probably benign Het
Tpr A G 1: 150,306,943 (GRCm39) S1587G probably benign Het
Trappc6b A G 12: 59,090,433 (GRCm39) *97Q probably null Het
Usf3 T C 16: 44,037,545 (GRCm39) V675A probably damaging Het
Wdr7 C T 18: 63,929,299 (GRCm39) T1045M probably benign Het
Zc3h11a A T 1: 133,552,254 (GRCm39) C618S probably benign Het
Zfp398 T C 6: 47,817,301 (GRCm39) V47A possibly damaging Het
Zzz3 A G 3: 152,134,211 (GRCm39) N423S probably benign Het
Other mutations in Or52d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Or52d1 APN 7 103,755,840 (GRCm39) missense probably damaging 1.00
IGL02588:Or52d1 APN 7 103,756,260 (GRCm39) missense possibly damaging 0.94
IGL02961:Or52d1 APN 7 103,756,357 (GRCm39) nonsense probably null
IGL03092:Or52d1 APN 7 103,755,854 (GRCm39) missense probably damaging 0.99
PIT4402001:Or52d1 UTSW 7 103,755,657 (GRCm39) missense probably damaging 1.00
R0006:Or52d1 UTSW 7 103,755,527 (GRCm39) missense probably benign 0.00
R0109:Or52d1 UTSW 7 103,755,812 (GRCm39) missense probably damaging 1.00
R0109:Or52d1 UTSW 7 103,755,812 (GRCm39) missense probably damaging 1.00
R0601:Or52d1 UTSW 7 103,756,349 (GRCm39) missense possibly damaging 0.83
R0732:Or52d1 UTSW 7 103,755,501 (GRCm39) missense probably damaging 1.00
R1320:Or52d1 UTSW 7 103,755,687 (GRCm39) missense probably damaging 1.00
R1468:Or52d1 UTSW 7 103,755,896 (GRCm39) missense possibly damaging 0.82
R1468:Or52d1 UTSW 7 103,755,896 (GRCm39) missense possibly damaging 0.82
R1513:Or52d1 UTSW 7 103,755,671 (GRCm39) missense probably benign 0.02
R5486:Or52d1 UTSW 7 103,755,705 (GRCm39) missense probably damaging 0.99
R6110:Or52d1 UTSW 7 103,755,779 (GRCm39) missense probably damaging 1.00
R6497:Or52d1 UTSW 7 103,756,422 (GRCm39) intron probably benign
R6856:Or52d1 UTSW 7 103,755,998 (GRCm39) missense probably benign 0.00
R7766:Or52d1 UTSW 7 103,756,201 (GRCm39) nonsense probably null
R7789:Or52d1 UTSW 7 103,756,195 (GRCm39) missense probably damaging 0.99
R7844:Or52d1 UTSW 7 103,755,690 (GRCm39) missense probably damaging 1.00
R8888:Or52d1 UTSW 7 103,756,302 (GRCm39) missense probably damaging 1.00
R8895:Or52d1 UTSW 7 103,756,302 (GRCm39) missense probably damaging 1.00
R9167:Or52d1 UTSW 7 103,756,426 (GRCm39) makesense probably null
R9178:Or52d1 UTSW 7 103,755,720 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16