Incidental Mutation 'R5607:Or52s1b'
ID 439338
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 043271-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5607 (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: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 96% (54/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Ajap1 T A 4: 153,516,661 (GRCm39) T227S possibly damaging Het
Ankmy1 A G 1: 92,804,740 (GRCm39) F851S 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
Cacna1e T A 1: 154,347,086 (GRCm39) N1027I probably benign Het
Cacng4 A T 11: 107,625,610 (GRCm39) V327E probably damaging Het
Casp1 T C 9: 5,303,143 (GRCm39) V199A 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
Ctnna1 A G 18: 35,382,795 (GRCm39) D647G probably benign Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Exoc6 T A 19: 37,566,977 (GRCm39) V258D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G A 1: 174,437,377 (GRCm39) C1116Y probably damaging Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging 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
Mcm6 T C 1: 128,283,326 (GRCm39) T60A probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Mmp14 T C 14: 54,676,869 (GRCm39) Y428H probably damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Myo9a T C 9: 59,771,227 (GRCm39) V933A probably damaging Het
Nepn A T 10: 52,277,233 (GRCm39) D323V probably benign Het
Nrf1 C T 6: 30,126,245 (GRCm39) A150V probably damaging Het
Nxpe5 A G 5: 138,238,033 (GRCm39) T199A probably benign Het
Obscn T G 11: 59,013,674 (GRCm39) K1150Q probably benign Het
Or12j5 A C 7: 140,084,318 (GRCm39) V18G probably benign Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or7a38 A G 10: 78,752,933 (GRCm39) I86M possibly damaging Het
Or7e170 T A 9: 19,795,272 (GRCm39) M110L probably benign Het
Otop1 G A 5: 38,451,848 (GRCm39) G184S possibly damaging Het
Pkp2 G T 16: 16,078,239 (GRCm39) D494Y probably damaging Het
Pop5 G A 5: 115,378,260 (GRCm39) R68Q probably damaging Het
Ppp1r13b T C 12: 111,800,223 (GRCm39) D518G probably benign Het
Preb G T 5: 31,117,307 (GRCm39) probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rag1 G A 2: 101,474,137 (GRCm39) T335I probably damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Sf3a3 A T 4: 124,608,746 (GRCm39) D20V probably damaging Het
Slco1b2 A G 6: 141,631,312 (GRCm39) N649D probably benign Het
Smarcal1 A G 1: 72,625,372 (GRCm39) D173G probably benign Het
Smg7 A G 1: 152,718,985 (GRCm39) L914P probably damaging Het
Tbc1d32 A T 10: 56,005,246 (GRCm39) S796T possibly damaging Het
Tex14 A G 11: 87,413,404 (GRCm39) T1052A probably benign Het
Tspan1 A G 4: 116,021,277 (GRCm39) V109A possibly damaging Het
Ttbk2 A G 2: 120,637,305 (GRCm39) V51A possibly damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Ubr2 G T 17: 47,245,126 (GRCm39) C1633* probably null Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Vmn2r25 T C 6: 123,805,318 (GRCm39) E513G possibly damaging 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
R5608: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'- GCTTACAGCCTCATCGTTGC -3'

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