Incidental Mutation 'IGL02398:Or52r1c'
ID 291753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52r1c
Ensembl Gene ENSMUSG00000073959
Gene Name olfactory receptor family 52 subfamily R member 1C
Synonyms MOR30-2, Olfr584, GA_x6K02T2PBJ9-5796876-5797820
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02398
Quality Score
Status
Chromosome 7
Chromosomal Location 102734727-102735686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102735313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 191 (C191Y)
Ref Sequence ENSEMBL: ENSMUSP00000151043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098210] [ENSMUST00000211036] [ENSMUST00000214215]
AlphaFold Q8VGW0
Predicted Effect probably damaging
Transcript: ENSMUST00000098210
AA Change: C196Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: C196Y

DomainStartEndE-ValueType
Pfam:7tm_4 38 317 1.4e-110 PFAM
Pfam:7TM_GPCR_Srsx 42 234 2.1e-9 PFAM
Pfam:7tm_1 48 299 4.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211036
AA Change: C191Y
Predicted Effect probably damaging
Transcript: ENSMUST00000214215
AA Change: C191Y

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,709,824 (GRCm39) C160* probably null Het
Alkbh8 C T 9: 3,345,870 (GRCm39) P197S possibly damaging Het
Ankef1 A C 2: 136,397,702 (GRCm39) N761T probably damaging Het
Ankrd7 A G 6: 18,866,696 (GRCm39) Y72C probably damaging Het
Cfap36 T G 11: 29,172,833 (GRCm39) M231L probably benign Het
Cog7 A G 7: 121,563,432 (GRCm39) C227R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspg4 A T 9: 56,793,970 (GRCm39) E568D probably benign Het
Cwc27 G A 13: 104,940,762 (GRCm39) T199I possibly damaging Het
Cyp26a1 A G 19: 37,688,467 (GRCm39) I330V probably benign Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dhrs7 G A 12: 72,711,466 (GRCm39) R24C probably damaging Het
Ehmt2 T A 17: 35,127,455 (GRCm39) C838S probably damaging Het
Fn1 A T 1: 71,657,829 (GRCm39) probably null Het
Gjb3 T A 4: 127,219,855 (GRCm39) S226C probably benign Het
Gm14496 A G 2: 181,637,963 (GRCm39) I346V probably benign Het
Gm8050 T C 14: 17,930,894 (GRCm39) E172G probably damaging Het
Higd1a G A 9: 121,681,590 (GRCm39) R22W probably damaging Het
Hmcn1 A G 1: 150,678,648 (GRCm39) L491S possibly damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irgm2 A T 11: 58,110,755 (GRCm39) I161F probably damaging Het
Lrp8 G T 4: 107,704,691 (GRCm39) V304F probably damaging Het
Lrp8 C A 4: 107,726,245 (GRCm39) S850R probably damaging Het
Lrrc9 A T 12: 72,513,677 (GRCm39) M513L probably benign Het
Myo18b A T 5: 112,978,178 (GRCm39) V1248E possibly damaging Het
Myo1b A T 1: 51,797,050 (GRCm39) N945K probably damaging Het
Nipbl A G 15: 8,356,574 (GRCm39) L1604P probably damaging Het
Oas1f A T 5: 120,989,568 (GRCm39) Y169F probably benign Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or2a56 A T 6: 42,933,046 (GRCm39) I205F probably benign Het
Or8k22 A T 2: 86,162,868 (GRCm39) Y277* probably null Het
Parp8 A G 13: 117,047,399 (GRCm39) probably null Het
Pde4dip T C 3: 97,674,097 (GRCm39) Y273C probably benign Het
Pgbd5 C T 8: 125,111,257 (GRCm39) A54T probably damaging Het
Pglyrp4 G A 3: 90,646,424 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,302 (GRCm39) S1819R probably benign Het
Polr1a T C 6: 71,913,540 (GRCm39) probably benign Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prlhr G T 19: 60,455,753 (GRCm39) A271E probably damaging Het
Rad23b C T 4: 55,350,360 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,905,114 (GRCm39) S132R probably damaging Het
Ros1 T A 10: 52,020,980 (GRCm39) probably benign Het
Ryr3 T C 2: 112,677,767 (GRCm39) D1327G probably benign Het
Slit1 A C 19: 41,590,676 (GRCm39) V1332G probably damaging Het
Spin2h A G X: 32,162,153 (GRCm39) D224G probably damaging Het
Tmem178b A G 6: 40,184,461 (GRCm39) M120V probably damaging Het
Trim25 T C 11: 88,890,630 (GRCm39) C106R probably damaging Het
Trim35 A G 14: 66,546,697 (GRCm39) Y488C probably damaging Het
Tsc2 A T 17: 24,840,703 (GRCm39) H326Q probably damaging Het
Yap1 A T 9: 7,950,536 (GRCm39) I315K probably benign Het
Zfp654 A G 16: 64,606,381 (GRCm39) V607A probably benign Het
Other mutations in Or52r1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Or52r1c APN 7 102,735,582 (GRCm39) missense probably benign 0.00
IGL02113:Or52r1c APN 7 102,735,057 (GRCm39) missense possibly damaging 0.95
IGL02718:Or52r1c APN 7 102,734,790 (GRCm39) missense probably benign 0.01
IGL02941:Or52r1c APN 7 102,735,528 (GRCm39) missense probably benign 0.05
IGL02942:Or52r1c APN 7 102,735,405 (GRCm39) missense probably benign 0.07
R0496:Or52r1c UTSW 7 102,734,797 (GRCm39) missense probably damaging 1.00
R0511:Or52r1c UTSW 7 102,735,058 (GRCm39) missense probably damaging 1.00
R0646:Or52r1c UTSW 7 102,735,358 (GRCm39) missense probably damaging 0.99
R1652:Or52r1c UTSW 7 102,735,013 (GRCm39) missense probably benign 0.04
R2312:Or52r1c UTSW 7 102,735,633 (GRCm39) missense probably damaging 0.99
R2849:Or52r1c UTSW 7 102,735,319 (GRCm39) missense probably damaging 1.00
R2937:Or52r1c UTSW 7 102,735,548 (GRCm39) missense probably benign 0.01
R3176:Or52r1c UTSW 7 102,734,957 (GRCm39) missense probably damaging 1.00
R3276:Or52r1c UTSW 7 102,734,957 (GRCm39) missense probably damaging 1.00
R3708:Or52r1c UTSW 7 102,735,501 (GRCm39) missense probably damaging 1.00
R4737:Or52r1c UTSW 7 102,735,121 (GRCm39) missense probably damaging 1.00
R5045:Or52r1c UTSW 7 102,735,664 (GRCm39) missense probably benign 0.00
R5172:Or52r1c UTSW 7 102,734,884 (GRCm39) missense probably damaging 1.00
R5849:Or52r1c UTSW 7 102,734,728 (GRCm39) start codon destroyed probably null 0.02
R6294:Or52r1c UTSW 7 102,734,874 (GRCm39) missense probably benign 0.01
R6846:Or52r1c UTSW 7 102,735,265 (GRCm39) missense possibly damaging 0.88
R6869:Or52r1c UTSW 7 102,735,075 (GRCm39) missense possibly damaging 0.47
R6936:Or52r1c UTSW 7 102,735,021 (GRCm39) missense probably damaging 0.97
R7133:Or52r1c UTSW 7 102,735,205 (GRCm39) missense probably damaging 0.99
R7724:Or52r1c UTSW 7 102,735,470 (GRCm39) nonsense probably null
R7772:Or52r1c UTSW 7 102,735,388 (GRCm39) missense probably benign 0.23
R9341:Or52r1c UTSW 7 102,735,324 (GRCm39) nonsense probably null
R9343:Or52r1c UTSW 7 102,735,324 (GRCm39) nonsense probably null
R9718:Or52r1c UTSW 7 102,735,196 (GRCm39) missense probably benign 0.00
R9752:Or52r1c UTSW 7 102,735,669 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16