Incidental Mutation 'R5608:Or52s1b'
ID 439387
Institutional Source Beutler Lab
Gene Symbol Or52s1b
Ensembl Gene ENSMUSG00000057461
Gene Name olfactory receptor family 52 subfamily S member 1B
Synonyms MOR24-1P, GA_x6K02T2PBJ9-5889409-5888465, Olfr591
MMRRC Submission 043272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5608 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102821898-102822842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102822056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 263 (T263A)
Ref Sequence ENSEMBL: ENSMUSP00000150894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074272] [ENSMUST00000216581]
AlphaFold Q7TRR7
Predicted Effect probably damaging
Transcript: ENSMUST00000074272
AA Change: T263A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: T263A

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 9.4e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 255 7.1e-8 PFAM
Pfam:7tm_1 43 294 6.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216581
AA Change: T263A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218115
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 95% (54/57)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 T C 10: 80,178,781 (GRCm39) D199G probably benign Het
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Adgrv1 T C 13: 81,303,395 (GRCm39) E117G probably damaging Het
Alkbh7 A T 17: 57,305,446 (GRCm39) I88F probably damaging Het
Ankrd26 C A 6: 118,488,583 (GRCm39) D1359Y probably damaging Het
Apoo-ps T C 13: 107,550,709 (GRCm39) noncoding transcript Het
Arfgap2 G A 2: 91,100,547 (GRCm39) R298H probably damaging Het
Birc6 G A 17: 74,920,539 (GRCm39) V2109I probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Bpifa1 T C 2: 153,989,495 (GRCm39) probably benign Het
Capn7 A G 14: 31,092,664 (GRCm39) Y737C probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Colec12 T A 18: 9,848,267 (GRCm39) D148E possibly damaging Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Dpysl4 T C 7: 138,678,459 (GRCm39) V473A probably damaging Het
Dyrk3 T C 1: 131,056,452 (GRCm39) S574G probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Helq C T 5: 100,938,085 (GRCm39) G454S probably damaging Het
Incenp CGCTGCTGCTGC CGCTGCTGCTGCTGC 19: 9,871,232 (GRCm39) probably benign Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Ltbp2 A C 12: 84,834,238 (GRCm39) probably null Het
Marcks A T 10: 37,012,912 (GRCm39) V41E probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Nhlrc3 C T 3: 53,369,732 (GRCm39) probably null Het
Or1n1b A G 2: 36,780,527 (GRCm39) F111S probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or8b8 G A 9: 37,809,078 (GRCm39) C126Y probably damaging Het
Pcdhga6 A G 18: 37,840,514 (GRCm39) N78S possibly damaging Het
Plag1 T A 4: 3,905,463 (GRCm39) K76* probably null Het
Ptpn21 T A 12: 98,655,036 (GRCm39) T644S probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Rnf157 A T 11: 116,287,146 (GRCm39) probably null Het
Serpina5 A C 12: 104,070,003 (GRCm39) Y300S probably damaging Het
Slc41a3 A G 6: 90,617,889 (GRCm39) K279R probably benign Het
Smndc1 A G 19: 53,372,084 (GRCm39) V110A probably benign Het
Spata31e2 T C 1: 26,722,129 (GRCm39) Q1017R probably damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Utrn A T 10: 12,547,581 (GRCm39) S1620T probably benign Het
Xkr4 T C 1: 3,741,603 (GRCm39) probably benign Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S probably damaging Het
Other mutations in Or52s1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Or52s1b APN 7 102,822,658 (GRCm39) missense probably damaging 1.00
IGL03307:Or52s1b APN 7 102,822,623 (GRCm39) missense probably benign 0.00
G1Funyon:Or52s1b UTSW 7 102,822,280 (GRCm39) missense probably damaging 0.99
R0082:Or52s1b UTSW 7 102,822,409 (GRCm39) missense probably benign 0.05
R0389:Or52s1b UTSW 7 102,822,490 (GRCm39) missense possibly damaging 0.48
R0843:Or52s1b UTSW 7 102,822,326 (GRCm39) missense possibly damaging 0.74
R1378:Or52s1b UTSW 7 102,822,475 (GRCm39) missense probably damaging 1.00
R1386:Or52s1b UTSW 7 102,822,574 (GRCm39) missense probably benign 0.11
R1521:Or52s1b UTSW 7 102,822,658 (GRCm39) missense probably benign 0.39
R1538:Or52s1b UTSW 7 102,822,193 (GRCm39) missense probably damaging 0.97
R3108:Or52s1b UTSW 7 102,822,293 (GRCm39) missense probably damaging 0.98
R3109:Or52s1b UTSW 7 102,822,293 (GRCm39) missense probably damaging 0.98
R5350:Or52s1b UTSW 7 102,822,766 (GRCm39) missense probably damaging 0.99
R5488:Or52s1b UTSW 7 102,822,658 (GRCm39) missense probably damaging 1.00
R5489:Or52s1b UTSW 7 102,822,658 (GRCm39) missense probably damaging 1.00
R5598:Or52s1b UTSW 7 102,822,841 (GRCm39) start codon destroyed probably null 1.00
R5607:Or52s1b UTSW 7 102,822,056 (GRCm39) missense probably damaging 0.96
R6974:Or52s1b UTSW 7 102,822,442 (GRCm39) missense probably damaging 0.99
R6994:Or52s1b UTSW 7 102,822,119 (GRCm39) missense probably damaging 1.00
R7095:Or52s1b UTSW 7 102,822,253 (GRCm39) missense probably benign 0.00
R7966:Or52s1b UTSW 7 102,822,062 (GRCm39) missense probably damaging 0.99
R7980:Or52s1b UTSW 7 102,822,242 (GRCm39) missense probably damaging 1.00
R8301:Or52s1b UTSW 7 102,822,280 (GRCm39) missense probably damaging 0.99
R8831:Or52s1b UTSW 7 102,822,203 (GRCm39) missense probably benign 0.01
Z1088:Or52s1b UTSW 7 102,822,013 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AAGAAAGTGAGGCCACATTTTG -3'
(R):5'- ATCGTTGCCTTCCTCACAGG -3'

Sequencing Primer
(F):5'- ATAGTACCACCAAATTGGAATGC -3'
(R):5'- CTCACAGGTGGGGTAGACTTC -3'
Posted On 2016-10-26