Incidental Mutation 'IGL03112:Or10ag52'
ID 419217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ag52
Ensembl Gene ENSMUSG00000070857
Gene Name olfactory receptor family 10 subfamily AG member 52
Synonyms GA_x6K02T2Q125-48697747-48698727, MOR264-25, Olfr1113
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03112
Quality Score
Status
Chromosome 2
Chromosomal Location 87043238-87044218 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87043944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 236 (I236N)
Ref Sequence ENSEMBL: ENSMUSP00000150991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079966] [ENSMUST00000215611]
AlphaFold Q7TR54
Predicted Effect probably damaging
Transcript: ENSMUST00000079966
AA Change: I236N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078883
Gene: ENSMUSG00000070857
AA Change: I236N

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 6.7e-53 PFAM
Pfam:7tm_1 56 305 2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215611
AA Change: I236N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in Or10ag52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Or10ag52 APN 2 87,043,850 (GRCm39) missense probably damaging 0.96
IGL02523:Or10ag52 APN 2 87,043,664 (GRCm39) missense probably benign 0.26
IGL03137:Or10ag52 APN 2 87,043,500 (GRCm39) missense probably benign 0.42
R0393:Or10ag52 UTSW 2 87,044,037 (GRCm39) missense probably benign
R1758:Or10ag52 UTSW 2 87,043,758 (GRCm39) missense probably benign 0.13
R1920:Or10ag52 UTSW 2 87,043,721 (GRCm39) missense probably benign 0.09
R1992:Or10ag52 UTSW 2 87,043,588 (GRCm39) nonsense probably null
R3742:Or10ag52 UTSW 2 87,043,340 (GRCm39) missense probably benign 0.00
R5615:Or10ag52 UTSW 2 87,044,083 (GRCm39) missense probably benign 0.00
R5665:Or10ag52 UTSW 2 87,044,072 (GRCm39) missense probably benign 0.05
R5749:Or10ag52 UTSW 2 87,043,287 (GRCm39) missense probably benign
R6752:Or10ag52 UTSW 2 87,043,388 (GRCm39) missense probably benign
R7986:Or10ag52 UTSW 2 87,043,922 (GRCm39) missense probably benign 0.12
R8161:Or10ag52 UTSW 2 87,044,148 (GRCm39) missense probably damaging 0.96
R8283:Or10ag52 UTSW 2 87,043,683 (GRCm39) missense probably benign 0.04
R9185:Or10ag52 UTSW 2 87,044,174 (GRCm39) missense probably benign 0.01
Z1088:Or10ag52 UTSW 2 87,044,122 (GRCm39) missense possibly damaging 0.48
Posted On 2016-08-02