Incidental Mutation 'R1486:Or52s19'
ID 163468
Institutional Source Beutler Lab
Gene Symbol Or52s19
Ensembl Gene ENSMUSG00000109951
Gene Name olfactory receptor family 52 subfamily S member 19
Synonyms Olfr601, MOR24-3, GA_x6K02T2PBJ9-6068534-6067590
MMRRC Submission 039539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1486 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103007431-103008420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103008201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 67 (M67L)
Ref Sequence ENSEMBL: ENSMUSP00000150751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080474] [ENSMUST00000210431] [ENSMUST00000214110] [ENSMUST00000217416]
AlphaFold A2RS33
Predicted Effect possibly damaging
Transcript: ENSMUST00000080474
AA Change: M67L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079328
Gene: ENSMUSG00000109951
AA Change: M67L

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 possibly damaging
Transcript: ENSMUST00000210431
AA Change: M67L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214110
AA Change: M67L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217416
AA Change: M67L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik A G 4: 108,705,143 (GRCm39) E19G probably benign Het
A730018C14Rik T C 12: 112,382,129 (GRCm39) noncoding transcript Het
Acrbp T A 6: 125,027,585 (GRCm39) Y78N probably damaging Het
Adamtsl4 T C 3: 95,589,166 (GRCm39) S422G probably benign Het
Apba2 T C 7: 64,386,696 (GRCm39) V429A probably damaging Het
Atf6 A G 1: 170,622,260 (GRCm39) C454R probably damaging Het
Bhlhe40 T C 6: 108,641,890 (GRCm39) I278T probably damaging Het
Birc6 G T 17: 74,946,815 (GRCm39) V2845L probably damaging Het
Card11 T C 5: 140,862,274 (GRCm39) I1008V probably benign Het
Catsperg1 C A 7: 28,884,920 (GRCm39) K900N probably damaging Het
Cep20 A G 16: 14,118,004 (GRCm39) V172A probably benign Het
Chek2 T G 5: 110,989,093 (GRCm39) probably benign Het
Dnaaf9 A G 2: 130,579,338 (GRCm39) L633P probably damaging Het
Dnah9 A T 11: 65,725,098 (GRCm39) S4352T probably damaging Het
Eif3c C T 7: 126,163,893 (GRCm39) R50Q probably damaging Het
Eml6 A C 11: 29,755,114 (GRCm39) I887S possibly damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Grm4 A G 17: 27,653,691 (GRCm39) L706P probably damaging Het
Irak3 T C 10: 119,978,966 (GRCm39) D495G probably damaging Het
Itga9 T G 9: 118,455,518 (GRCm39) V64G probably damaging Het
Iws1 T C 18: 32,230,309 (GRCm39) I759T probably damaging Het
Kdm3b T A 18: 34,967,357 (GRCm39) F1721I probably damaging Het
Lrrc8c T A 5: 105,755,395 (GRCm39) V390E probably damaging Het
Mki67 G A 7: 135,301,449 (GRCm39) T1195I probably benign Het
Mphosph8 C T 14: 56,926,496 (GRCm39) T646I probably damaging Het
Ncdn A T 4: 126,642,391 (GRCm39) V422D probably damaging Het
Nrg1 T C 8: 32,308,372 (GRCm39) E548G probably damaging Het
Nt5el T C 13: 105,246,291 (GRCm39) V284A probably benign Het
Nup37 T C 10: 87,984,116 (GRCm39) Y11H probably damaging Het
Or1ad1 G A 11: 50,875,608 (GRCm39) V27I probably benign Het
Or51f1e A T 7: 102,747,637 (GRCm39) I230F probably damaging Het
Or8j3c T A 2: 86,253,825 (GRCm39) H65L probably damaging Het
Pcgf1 T G 6: 83,056,107 (GRCm39) S70R probably damaging Het
Potefam1 T G 2: 111,030,703 (GRCm39) Q402P possibly damaging Het
Prps1l3 C T 12: 57,285,573 (GRCm39) A121V probably benign Het
Rasal1 T C 5: 120,792,917 (GRCm39) Y57H probably damaging Het
Rbm12b2 A G 4: 12,094,841 (GRCm39) R567G probably benign Het
Rep15 T A 6: 146,934,577 (GRCm39) F139I probably damaging Het
Ros1 T C 10: 52,048,954 (GRCm39) Y92C probably damaging Het
Sin3b A G 8: 73,477,141 (GRCm39) T803A probably benign Het
Skint11 G A 4: 114,052,015 (GRCm39) probably null Het
Sobp T G 10: 42,898,518 (GRCm39) S356R probably benign Het
Spats2l T C 1: 57,939,970 (GRCm39) I228T probably damaging Het
Sqor G A 2: 122,649,565 (GRCm39) probably null Het
Stox1 T C 10: 62,500,415 (GRCm39) D715G probably benign Het
Tln2 C A 9: 67,219,121 (GRCm39) G275W probably damaging Het
Tmc5 C T 7: 118,272,655 (GRCm39) P942S probably benign Het
Tor4a A T 2: 25,084,691 (GRCm39) I404N possibly damaging Het
Ttc3 G A 16: 94,248,988 (GRCm39) R1162Q probably damaging Het
Zfp451 T C 1: 33,816,808 (GRCm39) K164E probably damaging Het
Other mutations in Or52s19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02825:Or52s19 APN 7 103,007,568 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GGCTCCTATCTCCAAACATGCCAG -3'
(R):5'- GGCCAGCTAATAAGTCGCAACTCTC -3'

Sequencing Primer
(F):5'- GCCATGAACTCACAGTAGGTG -3'
(R):5'- TAAGTCGCAACTCTCTCCAAG -3'
Posted On 2014-03-28