Incidental Mutation 'R2943:Or52s19'
ID 255825
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R2943 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103007431-103008420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103007658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 248 (C248R)
Ref Sequence ENSEMBL: ENSMUSP00000150751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080474] [ENSMUST00000210431] [ENSMUST00000214110] [ENSMUST00000217416]
AlphaFold A2RS33
Predicted Effect probably damaging
Transcript: ENSMUST00000080474
AA Change: C248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079328
Gene: ENSMUSG00000109951
AA Change: C248R

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 damaging
Transcript: ENSMUST00000210431
AA Change: C248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214110
AA Change: C248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217416
AA Change: C248R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anln A G 9: 22,267,342 (GRCm39) probably null Het
Aqp12 A T 1: 92,934,387 (GRCm39) D88V probably damaging Het
Armc5 A C 7: 127,839,752 (GRCm39) N357H probably damaging Het
Atad2b C A 12: 4,992,067 (GRCm39) T222K probably damaging Het
Carmil2 C T 8: 106,419,564 (GRCm39) H815Y probably benign Het
Chrna9 T C 5: 66,134,438 (GRCm39) Y430H probably damaging Het
Eif1ad15 T C 12: 88,288,004 (GRCm39) D83G probably benign Het
Eps8 T C 6: 137,499,870 (GRCm39) D203G probably damaging Het
Galnt6 G T 15: 100,612,160 (GRCm39) probably null Het
Gsdmc C T 15: 63,675,501 (GRCm39) V105I possibly damaging Het
Kntc1 A G 5: 123,935,847 (GRCm39) D1509G possibly damaging Het
Lrp10 C T 14: 54,707,302 (GRCm39) probably benign Het
Mcmbp A T 7: 128,325,697 (GRCm39) L97H probably damaging Het
Mfsd2a A G 4: 122,842,382 (GRCm39) L495P possibly damaging Het
Pank4 G A 4: 155,055,931 (GRCm39) V319I probably benign Het
Pde7a T C 3: 19,284,489 (GRCm39) N365D probably damaging Het
Pot1b A T 17: 55,981,058 (GRCm39) S319T probably benign Het
Rbm25 T C 12: 83,707,415 (GRCm39) I276T probably damaging Het
Reg1 T A 6: 78,405,128 (GRCm39) L117Q possibly damaging Het
Ripor3 T C 2: 167,825,681 (GRCm39) H759R possibly damaging Het
Rph3al A T 11: 75,725,714 (GRCm39) probably null Het
S1pr4 A C 10: 81,334,706 (GRCm39) L256R probably damaging Het
Sstr4 T C 2: 148,238,085 (GRCm39) V232A probably damaging Het
Tor3a G A 1: 156,501,665 (GRCm39) P71S probably benign Het
Zfp804a C A 2: 82,066,223 (GRCm39) Q65K 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
R1486:Or52s19 UTSW 7 103,008,201 (GRCm39) missense possibly damaging 0.93
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'- GTGCTTTCAAACAACGTCAGC -3'
(R):5'- TGTTTGGAGATAGGAGCCACC -3'

Sequencing Primer
(F):5'- AGCAAGATCAGCTGCCTTTTAC -3'
(R):5'- CAAGCGTTACAGCCTTGGTG -3'
Posted On 2014-12-29