Incidental Mutation 'R1807:Or52e19b'
ID 203533
Institutional Source Beutler Lab
Gene Symbol Or52e19b
Ensembl Gene ENSMUSG00000059874
Gene Name olfactory receptor family 52 subfamily E member 19B
Synonyms MOR32-2, GA_x6K02T2PBJ9-6092550-6092362, GA_x6K02T2PBJ9-6096387-6095449, Olfr604, Olfr603, MOR32-14_i
MMRRC Submission 039836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1807 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103032269-103033207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103032790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 140 (N140Y)
Ref Sequence ENSEMBL: ENSMUSP00000151321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071844] [ENSMUST00000218246]
AlphaFold L7N1Y4
Predicted Effect probably benign
Transcript: ENSMUST00000071844
AA Change: N140Y

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: N140Y

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.7e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 210 1.9e-10 PFAM
Pfam:7tm_1 43 293 5.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218246
AA Change: N140Y

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.3306 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.7%
Validation Efficiency 97% (77/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C T 17: 36,205,961 (GRCm39) W27* probably null Het
4933430I17Rik T A 4: 62,460,993 (GRCm39) Y289* probably null Het
A3galt2 A G 4: 128,661,394 (GRCm39) I348V probably benign Het
Abca13 A G 11: 9,241,755 (GRCm39) Y1206C probably damaging Het
Adar T C 3: 89,642,172 (GRCm39) S18P probably benign Het
Akr1cl T C 1: 65,061,106 (GRCm39) D139G possibly damaging Het
Aldh1b1 A G 4: 45,802,873 (GRCm39) Y137C possibly damaging Het
Arsa T C 15: 89,359,525 (GRCm39) M86V possibly damaging Het
Atg9b C A 5: 24,592,055 (GRCm39) R648L probably damaging Het
Atrn A G 2: 130,824,692 (GRCm39) N1042S possibly damaging Het
Ccdc6 T A 10: 70,010,989 (GRCm39) D325E possibly damaging Het
Cdk12 T C 11: 98,101,203 (GRCm39) S354P unknown Het
Chst3 T A 10: 60,022,130 (GRCm39) Y239F probably benign Het
Cilp2 C A 8: 70,334,844 (GRCm39) R718L probably damaging Het
Col27a1 A G 4: 63,249,586 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,616,137 (GRCm39) N266S probably benign Het
Ctnnd2 T C 15: 30,620,017 (GRCm39) V123A probably damaging Het
Cyria G A 12: 12,411,505 (GRCm39) R123Q probably benign Het
D7Ertd443e T A 7: 133,895,034 (GRCm39) E552V probably null Het
Dcst1 T A 3: 89,260,848 (GRCm39) H516L probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Drd2 C T 9: 49,316,367 (GRCm39) L376F probably damaging Het
Edn1 A G 13: 42,460,270 (GRCm39) N175S probably damaging Het
Eipr1 G T 12: 28,816,838 (GRCm39) G65V probably damaging Het
Epha4 G A 1: 77,351,541 (GRCm39) P905S probably benign Het
Erbb2 T C 11: 98,319,680 (GRCm39) Y591H probably damaging Het
Fam135b G A 15: 71,335,761 (GRCm39) R478C probably benign Het
Fat2 T C 11: 55,180,085 (GRCm39) T1419A probably damaging Het
Flnb C T 14: 7,934,645 (GRCm38) T2239I probably benign Het
Gm7713 T C 15: 59,866,320 (GRCm39) noncoding transcript Het
Hsf5 C T 11: 87,548,168 (GRCm39) P617L probably benign Het
Kcnk12 C A 17: 88,053,468 (GRCm39) R398L probably benign Het
Kif21b T A 1: 136,075,531 (GRCm39) N219K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra5 A T 6: 129,876,383 (GRCm39) F141L probably benign Het
Lmtk3 C T 7: 45,442,702 (GRCm39) P462S probably benign Het
Mast2 A G 4: 116,167,938 (GRCm39) probably benign Het
Me1 T A 9: 86,532,932 (GRCm39) T197S probably damaging Het
Msr1 T A 8: 40,072,948 (GRCm39) Q267L probably benign Het
Nfic T C 10: 81,240,819 (GRCm39) T328A probably benign Het
Nphp3 G A 9: 103,897,940 (GRCm39) D390N probably benign Het
Nr2e1 T A 10: 42,458,905 (GRCm39) probably null Het
Nt5el A T 13: 105,218,744 (GRCm39) Q26L probably benign Het
Or5t9 T A 2: 86,659,445 (GRCm39) F116L probably benign Het
Pard6b T C 2: 167,929,332 (GRCm39) L46P probably damaging Het
Prkaa1 T A 15: 5,173,436 (GRCm39) L20Q probably damaging Het
Rapgefl1 T C 11: 98,736,815 (GRCm39) probably null Het
Recql5 T C 11: 115,785,941 (GRCm39) K611E possibly damaging Het
Rexo1 A T 10: 80,378,413 (GRCm39) I1180N possibly damaging Het
Rnf26rt A G 6: 76,474,397 (GRCm39) V73A probably benign Het
Rph3a T C 5: 121,083,456 (GRCm39) N605D probably damaging Het
Sema6a A G 18: 47,409,491 (GRCm39) V592A possibly damaging Het
Skint11 A T 4: 114,051,893 (GRCm39) R80S probably benign Het
Smpdl3a C A 10: 57,677,118 (GRCm39) P72H probably damaging Het
Sobp T G 10: 43,036,822 (GRCm39) M39L possibly damaging Het
Sparcl1 T A 5: 104,233,627 (GRCm39) Y574F probably damaging Het
Spns3 C T 11: 72,429,166 (GRCm39) W206* probably null Het
Srf A G 17: 46,864,685 (GRCm39) V190A possibly damaging Het
Stag1 T G 9: 100,790,719 (GRCm39) H742Q probably benign Het
Strn3 A T 12: 51,673,986 (GRCm39) S542T probably benign Het
Synpo2 T C 3: 122,873,906 (GRCm39) E1020G possibly damaging Het
Tcerg1l T A 7: 137,996,826 (GRCm39) H137L probably benign Het
Tlr12 A T 4: 128,511,229 (GRCm39) D340E probably benign Het
Tmem130 T A 5: 144,692,174 (GRCm39) T77S probably benign Het
Tmem143 C A 7: 45,547,037 (GRCm39) R68S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trem1 G T 17: 48,548,663 (GRCm39) G67* probably null Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Txndc9 A T 1: 38,033,096 (GRCm39) H95Q probably damaging Het
Yju2b C T 8: 84,986,936 (GRCm39) R187Q probably damaging Het
Zfp35 T A 18: 24,136,986 (GRCm39) N443K probably benign Het
Other mutations in Or52e19b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Or52e19b APN 7 103,032,672 (GRCm39) missense probably damaging 0.98
IGL01582:Or52e19b APN 7 103,032,806 (GRCm39) nonsense probably null
IGL01788:Or52e19b APN 7 103,032,770 (GRCm39) missense probably benign 0.00
IGL02837:Or52e19b UTSW 7 103,032,822 (GRCm39) missense probably damaging 1.00
R2097:Or52e19b UTSW 7 103,032,840 (GRCm39) missense probably damaging 1.00
R2161:Or52e19b UTSW 7 103,032,407 (GRCm39) missense probably benign 0.01
R4870:Or52e19b UTSW 7 103,032,840 (GRCm39) missense probably damaging 1.00
R5116:Or52e19b UTSW 7 103,033,071 (GRCm39) missense probably benign 0.03
R6263:Or52e19b UTSW 7 103,032,403 (GRCm39) missense possibly damaging 0.88
R6385:Or52e19b UTSW 7 103,033,104 (GRCm39) missense possibly damaging 0.61
R6980:Or52e19b UTSW 7 103,032,303 (GRCm39) missense probably benign 0.01
R7474:Or52e19b UTSW 7 103,032,969 (GRCm39) missense probably damaging 0.99
R7754:Or52e19b UTSW 7 103,032,945 (GRCm39) missense probably damaging 1.00
R7842:Or52e19b UTSW 7 103,032,783 (GRCm39) missense probably benign 0.00
R7947:Or52e19b UTSW 7 103,032,735 (GRCm39) missense possibly damaging 0.95
R7980:Or52e19b UTSW 7 103,032,970 (GRCm39) missense probably damaging 0.99
R8176:Or52e19b UTSW 7 103,033,071 (GRCm39) missense probably benign 0.03
R8523:Or52e19b UTSW 7 103,032,413 (GRCm39) missense probably benign 0.31
R8817:Or52e19b UTSW 7 103,032,825 (GRCm39) missense probably damaging 1.00
R8845:Or52e19b UTSW 7 103,032,357 (GRCm39) missense probably damaging 0.98
R8968:Or52e19b UTSW 7 103,032,667 (GRCm39) missense probably damaging 1.00
R9398:Or52e19b UTSW 7 103,032,487 (GRCm39) missense probably damaging 0.97
R9770:Or52e19b UTSW 7 103,032,613 (GRCm39) missense probably damaging 0.99
Z1177:Or52e19b UTSW 7 103,033,009 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACAGCCTGTAGGATCCAAGC -3'
(R):5'- GCTGGGTATCTTCTGGTTCAACC -3'

Sequencing Primer
(F):5'- CCTGTAGGATCCAAGCATAGG -3'
(R):5'- TCTGGTTCAACCTTAGGGAGATAAGC -3'
Posted On 2014-06-23