Incidental Mutation 'IGL02825:Or52s19'
ID 361151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52s19
Ensembl Gene ENSMUSG00000109951
Gene Name olfactory receptor family 52 subfamily S member 19
Synonyms Olfr601, MOR24-3, GA_x6K02T2PBJ9-6068534-6067590
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL02825
Quality Score
Status
Chromosome 7
Chromosomal Location 103007431-103008420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103007568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 278 (I278V)
Ref Sequence ENSEMBL: ENSMUSP00000150751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080474] [ENSMUST00000210431] [ENSMUST00000214110] [ENSMUST00000217416]
AlphaFold A2RS33
Predicted Effect probably benign
Transcript: ENSMUST00000080474
AA Change: I278V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000079328
Gene: ENSMUSG00000109951
AA Change: I278V

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 6.6e-102 PFAM
Pfam:7TM_GPCR_Srsx 37 187 1.2e-10 PFAM
Pfam:7tm_1 43 294 2.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210431
AA Change: I278V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000214110
AA Change: I278V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000217416
AA Change: I278V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign Het
Other mutations in Or52s19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03093:Or52s19 APN 7 103,007,446 (GRCm39) utr 3 prime probably benign
R0147:Or52s19 UTSW 7 103,007,613 (GRCm39) missense possibly damaging 0.67
R0436:Or52s19 UTSW 7 103,007,948 (GRCm39) missense possibly damaging 0.69
R1486:Or52s19 UTSW 7 103,008,201 (GRCm39) missense possibly damaging 0.93
R2943:Or52s19 UTSW 7 103,007,658 (GRCm39) missense probably damaging 1.00
R4155:Or52s19 UTSW 7 103,008,363 (GRCm39) missense probably benign 0.00
R5335:Or52s19 UTSW 7 103,007,729 (GRCm39) missense probably damaging 1.00
R5378:Or52s19 UTSW 7 103,007,652 (GRCm39) missense probably damaging 1.00
R5840:Or52s19 UTSW 7 103,007,576 (GRCm39) missense probably damaging 1.00
R6961:Or52s19 UTSW 7 103,007,789 (GRCm39) missense possibly damaging 0.69
R7082:Or52s19 UTSW 7 103,007,495 (GRCm39) missense possibly damaging 0.84
R7497:Or52s19 UTSW 7 103,008,219 (GRCm39) missense probably damaging 0.97
R8154:Or52s19 UTSW 7 103,007,763 (GRCm39) missense probably benign
R9226:Or52s19 UTSW 7 103,008,092 (GRCm39) missense probably damaging 0.99
R9355:Or52s19 UTSW 7 103,008,125 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18