Incidental Mutation 'IGL02022:Or52n3'
ID 183995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52n3
Ensembl Gene ENSMUSG00000073917
Gene Name olfactory receptor family 52 subfamily N member 3
Synonyms MOR34-7, Olfr665, GA_x6K02T2PBJ9-7509539-7510489
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02022
Quality Score
Status
Chromosome 7
Chromosomal Location 104529916-104530866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104530141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 76 (C76R)
Ref Sequence ENSEMBL: ENSMUSP00000150229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098165] [ENSMUST00000215761] [ENSMUST00000216257] [ENSMUST00000216971]
AlphaFold Q8VG79
Predicted Effect probably damaging
Transcript: ENSMUST00000098165
AA Change: C76R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095768
Gene: ENSMUSG00000073917
AA Change: C76R

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 6.4e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 310 1e-5 PFAM
Pfam:7tm_1 43 295 1.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215761
AA Change: C76R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216257
AA Change: C76R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216971
AA Change: C76R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cnot7 G T 8: 40,952,386 (GRCm39) P190T probably damaging Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Efhd1 G A 1: 87,192,334 (GRCm39) E55K probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Slc22a4 G A 11: 53,874,435 (GRCm39) probably benign Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Zic1 C A 9: 91,244,525 (GRCm39) probably null Het
Other mutations in Or52n3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Or52n3 APN 7 104,530,724 (GRCm39) missense probably benign 0.01
IGL01408:Or52n3 APN 7 104,530,037 (GRCm39) missense probably benign 0.02
R0349:Or52n3 UTSW 7 104,530,199 (GRCm39) missense possibly damaging 0.48
R0585:Or52n3 UTSW 7 104,530,706 (GRCm39) missense probably damaging 1.00
R1518:Or52n3 UTSW 7 104,530,515 (GRCm39) nonsense probably null
R1659:Or52n3 UTSW 7 104,530,387 (GRCm39) missense probably benign 0.00
R1727:Or52n3 UTSW 7 104,530,721 (GRCm39) missense probably benign 0.11
R1762:Or52n3 UTSW 7 104,530,447 (GRCm39) missense probably damaging 0.99
R4052:Or52n3 UTSW 7 104,530,810 (GRCm39) missense probably damaging 0.99
R4208:Or52n3 UTSW 7 104,530,810 (GRCm39) missense probably damaging 0.99
R5486:Or52n3 UTSW 7 104,530,168 (GRCm39) missense probably benign 0.02
R5513:Or52n3 UTSW 7 104,530,706 (GRCm39) missense probably damaging 1.00
R6148:Or52n3 UTSW 7 104,530,289 (GRCm39) missense possibly damaging 0.84
R6593:Or52n3 UTSW 7 104,530,640 (GRCm39) missense probably damaging 1.00
R7143:Or52n3 UTSW 7 104,530,393 (GRCm39) missense probably damaging 1.00
R7189:Or52n3 UTSW 7 104,530,348 (GRCm39) nonsense probably null
R7413:Or52n3 UTSW 7 104,530,057 (GRCm39) missense probably benign 0.07
R8690:Or52n3 UTSW 7 104,530,762 (GRCm39) missense probably damaging 1.00
R8819:Or52n3 UTSW 7 104,530,862 (GRCm39) missense possibly damaging 0.90
R8820:Or52n3 UTSW 7 104,530,862 (GRCm39) missense possibly damaging 0.90
R9430:Or52n3 UTSW 7 104,530,204 (GRCm39) missense possibly damaging 0.92
R9464:Or52n3 UTSW 7 104,530,050 (GRCm39) nonsense probably null
Posted On 2014-05-07