Incidental Mutation 'IGL03409:Or52z13'
ID 421700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52z13
Ensembl Gene ENSMUSG00000073945
Gene Name olfactory receptor family 52 subfamily Z member 13
Synonyms MOR31-9, GA_x6K02T2PBJ9-6320148-6321104, Olfr618
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03409
Quality Score
Status
Chromosome 7
Chromosomal Location 103246525-103247481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103246574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 17 (M17K)
Ref Sequence ENSEMBL: ENSMUSP00000151147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098197] [ENSMUST00000214883] [ENSMUST00000215732]
AlphaFold K7N6B3
Predicted Effect possibly damaging
Transcript: ENSMUST00000098197
AA Change: M17K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: M17K

DomainStartEndE-ValueType
Pfam:7tm_4 34 314 3.1e-109 PFAM
Pfam:7TM_GPCR_Srsx 38 311 6.3e-12 PFAM
Pfam:7tm_1 44 296 8.2e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214883
AA Change: M17K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215732
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 124,691,762 (GRCm39) M401K possibly damaging Het
Ablim3 T A 18: 61,978,922 (GRCm39) H203L probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aox1 T G 1: 58,393,588 (GRCm39) D1249E possibly damaging Het
Astn2 T C 4: 65,353,423 (GRCm39) I1116V possibly damaging Het
Atad3a T C 4: 155,831,807 (GRCm39) D489G probably damaging Het
Caln1 G T 5: 130,646,719 (GRCm39) G52C probably damaging Het
Clcn7 A G 17: 25,374,359 (GRCm39) T467A probably damaging Het
Col17a1 A T 19: 47,654,979 (GRCm39) I599N possibly damaging Het
Cul2 T A 18: 3,429,593 (GRCm39) H547Q probably damaging Het
Cxcl14 T C 13: 56,440,320 (GRCm39) T80A probably damaging Het
Dscaml1 T A 9: 45,581,401 (GRCm39) Y407N probably damaging Het
Edc4 T A 8: 106,611,748 (GRCm39) I108N probably damaging Het
Exoc2 T C 13: 31,124,720 (GRCm39) probably benign Het
Gm1110 T G 9: 26,807,916 (GRCm39) H290P probably benign Het
Gm16223 T A 5: 42,225,336 (GRCm39) W12R unknown Het
Herc2 C A 7: 55,878,317 (GRCm39) H4623Q probably damaging Het
Igkv18-36 A T 6: 69,969,589 (GRCm39) H68Q possibly damaging Het
Kif7 T C 7: 79,357,301 (GRCm39) E635G probably benign Het
Or2t47 T C 11: 58,442,388 (GRCm39) K226E probably benign Het
Or4c109 A T 2: 88,817,931 (GRCm39) I205N possibly damaging Het
Or9m1b A T 2: 87,836,239 (GRCm39) N285K probably damaging Het
Pam C A 1: 97,792,054 (GRCm39) A456S probably benign Het
Pgap3 T C 11: 98,289,764 (GRCm39) T76A possibly damaging Het
Pkd2 C A 5: 104,637,215 (GRCm39) Y609* probably null Het
Plcg2 A G 8: 118,310,234 (GRCm39) D362G probably damaging Het
Polr3h C A 15: 81,801,595 (GRCm39) A94S probably benign Het
Rhod T C 19: 4,482,186 (GRCm39) D76G probably damaging Het
Rims2 T C 15: 39,320,129 (GRCm39) V670A probably damaging Het
Rpap3 G A 15: 97,579,620 (GRCm39) T464M possibly damaging Het
Rufy1 T A 11: 50,297,310 (GRCm39) I381L probably benign Het
Slc1a4 T C 11: 20,256,506 (GRCm39) T442A probably damaging Het
Slc9b1 T C 3: 135,100,670 (GRCm39) S472P probably damaging Het
Tmtc3 T C 10: 100,287,294 (GRCm39) T501A possibly damaging Het
Tnpo3 C A 6: 29,555,181 (GRCm39) D801Y probably damaging Het
Ttc39b T C 4: 83,179,193 (GRCm39) Y111C probably damaging Het
Ubr4 A T 4: 139,127,240 (GRCm39) R543* probably null Het
Vmn1r74 T G 7: 11,581,240 (GRCm39) L180R probably damaging Het
Vps45 T G 3: 95,960,401 (GRCm39) E80A probably benign Het
Zfp677 T C 17: 21,617,107 (GRCm39) Y55H probably damaging Het
Zng1 A G 19: 24,900,130 (GRCm39) V289A probably benign Het
Other mutations in Or52z13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or52z13 APN 7 103,247,369 (GRCm39) missense possibly damaging 0.65
IGL00963:Or52z13 APN 7 103,246,844 (GRCm39) splice site probably null
IGL01772:Or52z13 APN 7 103,247,120 (GRCm39) missense probably benign 0.12
IGL02014:Or52z13 APN 7 103,246,937 (GRCm39) missense probably damaging 1.00
R0087:Or52z13 UTSW 7 103,246,928 (GRCm39) missense probably benign 0.44
R0831:Or52z13 UTSW 7 103,247,338 (GRCm39) missense probably benign 0.02
R1779:Or52z13 UTSW 7 103,247,107 (GRCm39) missense probably damaging 1.00
R1909:Or52z13 UTSW 7 103,246,550 (GRCm39) missense probably benign 0.01
R5903:Or52z13 UTSW 7 103,247,128 (GRCm39) nonsense probably null
R5952:Or52z13 UTSW 7 103,247,174 (GRCm39) missense probably damaging 1.00
R6328:Or52z13 UTSW 7 103,247,073 (GRCm39) missense probably damaging 1.00
R7264:Or52z13 UTSW 7 103,246,955 (GRCm39) missense probably damaging 0.97
R7573:Or52z13 UTSW 7 103,246,735 (GRCm39) missense probably benign 0.08
R7870:Or52z13 UTSW 7 103,247,473 (GRCm39) missense probably damaging 1.00
R8394:Or52z13 UTSW 7 103,247,404 (GRCm39) missense probably damaging 1.00
R8833:Or52z13 UTSW 7 103,247,444 (GRCm39) missense possibly damaging 0.75
R9563:Or52z13 UTSW 7 103,247,225 (GRCm39) missense probably benign
R9601:Or52z13 UTSW 7 103,246,598 (GRCm39) missense probably benign 0.20
Posted On 2016-08-02