Incidental Mutation 'R7038:Or4s2b'
ID 546819
Institutional Source Beutler Lab
Gene Symbol Or4s2b
Ensembl Gene ENSMUSG00000060827
Gene Name olfactory receptor family 4 subfamily S member 2B
Synonyms MOR230-9, Olfr1194-ps1, MOR226-1, GA_x6K02T2Q125-50158288-50158818, Olfr1193, GA_x6K02T2Q125-50154044-50154826
MMRRC Submission 045138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7038 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88508201-88509157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88509085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 288 (R288S)
Ref Sequence ENSEMBL: ENSMUSP00000148918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
AlphaFold A2AV13
Predicted Effect probably damaging
Transcript: ENSMUST00000081697
AA Change: R295S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
AA Change: R295S

Pfam:7tm_4 36 310 7.5e-51 PFAM
Pfam:7tm_1 46 292 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099818
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121

Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 32 300 1.6e-5 PFAM
Pfam:7tm_1 39 285 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213545
Predicted Effect probably damaging
Transcript: ENSMUST00000213893
AA Change: R288S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216767
AA Change: R288S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (101/102)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,468,979 (GRCm39) S748P possibly damaging Het
Alppl2 T C 1: 87,016,833 (GRCm39) D104G probably damaging Het
Als2 C A 1: 59,206,673 (GRCm39) W1590L possibly damaging Het
Aopep G T 13: 63,338,339 (GRCm39) V571F possibly damaging Het
Aplf C T 6: 87,630,805 (GRCm39) W210* probably null Het
Ash1l A T 3: 88,889,978 (GRCm39) H619L probably benign Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Bpifb1 G T 2: 154,044,589 (GRCm39) V19F probably damaging Het
Capn1 A T 19: 6,064,349 (GRCm39) L50Q probably benign Het
Carmil1 A G 13: 24,323,318 (GRCm39) S245P probably damaging Het
Cavin4 A G 4: 48,672,479 (GRCm39) H308R probably benign Het
Cd4 C T 6: 124,847,217 (GRCm39) V316M probably damaging Het
Cdcp1 T C 9: 123,002,662 (GRCm39) Y803C probably damaging Het
Cep295nl A G 11: 118,223,815 (GRCm39) I343T probably benign Het
Cgn T G 3: 94,670,392 (GRCm39) T1021P possibly damaging Het
Cilk1 C T 9: 78,016,484 (GRCm39) probably benign Het
Col6a5 A G 9: 105,822,937 (GRCm39) V140A unknown Het
Cops8 T C 1: 90,531,320 (GRCm39) probably benign Het
Crhbp A G 13: 95,580,699 (GRCm39) Y54H probably damaging Het
Cyp2c29 G A 19: 39,275,571 (GRCm39) V4I probably benign Het
Cyp2j6 T A 4: 96,423,708 (GRCm39) Y220F probably benign Het
D130043K22Rik A G 13: 25,077,391 (GRCm39) D1008G probably damaging Het
Ddx47 T A 6: 135,000,336 (GRCm39) V444E possibly damaging Het
Dnttip2 T A 3: 122,070,181 (GRCm39) C465* probably null Het
Dst C A 1: 34,221,879 (GRCm39) S2561* probably null Het
Dstyk T C 1: 132,381,847 (GRCm39) S534P probably benign Het
Eif4e A G 3: 138,232,943 (GRCm39) probably benign Het
Eipr1 C T 12: 28,801,817 (GRCm39) probably benign Het
Fastkd2 T A 1: 63,771,032 (GRCm39) D129E possibly damaging Het
Fndc3b C T 3: 27,555,618 (GRCm39) G312D probably benign Het
Gab2 T A 7: 96,952,290 (GRCm39) I562N probably damaging Het
Gata5 C A 2: 179,975,685 (GRCm39) D160Y possibly damaging Het
Gcn1 G A 5: 115,749,203 (GRCm39) V1912I probably damaging Het
Gdf5 C A 2: 155,786,655 (GRCm39) Q107H probably damaging Het
Gdpd1 A G 11: 86,926,118 (GRCm39) Y276H probably damaging Het
Gins1 A G 2: 150,759,791 (GRCm39) Y81C probably damaging Het
Gm28360 T C 1: 117,781,329 (GRCm39) C107R probably damaging Het
Hadha T C 5: 30,324,998 (GRCm39) probably null Het
Hcn4 A T 9: 58,730,867 (GRCm39) I25F unknown Het
Hectd4 A G 5: 121,437,660 (GRCm39) Y1095C possibly damaging Het
Hsp90b1 A T 10: 86,531,730 (GRCm39) L73Q probably damaging Het
Hspa12a A G 19: 58,793,132 (GRCm39) V351A probably damaging Het
Htr1b T A 9: 81,514,296 (GRCm39) M104L probably benign Het
Igf2r T C 17: 12,917,212 (GRCm39) T1563A probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Liph A T 16: 21,795,009 (GRCm39) V201E probably damaging Het
Ltn1 T C 16: 87,221,759 (GRCm39) D196G probably damaging Het
Med15 C T 16: 17,470,591 (GRCm39) D589N possibly damaging Het
Mknk1 A G 4: 115,714,307 (GRCm39) D26G probably damaging Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Mrc2 A G 11: 105,223,062 (GRCm39) E435G possibly damaging Het
Mrps5 A G 2: 127,442,786 (GRCm39) E285G probably damaging Het
Ms4a20 A T 19: 11,087,675 (GRCm39) F85L probably benign Het
Muc16 T A 9: 18,531,764 (GRCm39) M6197L probably damaging Het
Myo3b A T 2: 69,925,552 (GRCm39) E34D probably benign Het
Nsd3 T C 8: 26,131,279 (GRCm39) S215P probably damaging Het
Nsmce2 T A 15: 59,368,679 (GRCm39) probably benign Het
Ntan1 T C 16: 13,644,774 (GRCm39) S37P probably benign Het
Nup210l T A 3: 90,067,254 (GRCm39) Y765N probably damaging Het
Or10q12 A T 19: 13,745,715 (GRCm39) D3V probably benign Het
Or2aa1 T C 11: 59,480,408 (GRCm39) Y169C possibly damaging Het
Or7g30 A C 9: 19,352,888 (GRCm39) L226F possibly damaging Het
Pald1 T C 10: 61,175,078 (GRCm39) H724R probably benign Het
Pcdhb7 A T 18: 37,475,257 (GRCm39) D131V possibly damaging Het
Pds5b G T 5: 150,724,225 (GRCm39) R1269S probably benign Het
Pikfyve T C 1: 65,273,520 (GRCm39) V645A probably damaging Het
Plag1 G T 4: 3,904,676 (GRCm39) H172N probably damaging Het
Plch2 G C 4: 155,074,489 (GRCm39) probably null Het
Plxnb1 T A 9: 108,929,453 (GRCm39) V103E probably damaging Het
Prpf8 T A 11: 75,386,984 (GRCm39) M1143K probably benign Het
Ptpn18 T A 1: 34,498,906 (GRCm39) M1K probably null Het
Rasgrf2 G A 13: 92,130,952 (GRCm39) T703I possibly damaging Het
Rassf6 A T 5: 90,757,584 (GRCm39) H125Q probably benign Het
Sdad1 A G 5: 92,446,049 (GRCm39) probably null Het
Sf3a3 T A 4: 124,622,219 (GRCm39) F426L probably benign Het
Sgsm3 T C 15: 80,892,576 (GRCm39) F6L possibly damaging Het
Slc14a2 A T 18: 78,202,252 (GRCm39) I626N probably damaging Het
Slc17a8 T C 10: 89,436,083 (GRCm39) N165S probably benign Het
Slc41a1 C A 1: 131,769,795 (GRCm39) A305D possibly damaging Het
Smyd4 C A 11: 75,281,340 (GRCm39) P271Q probably damaging Het
Spag17 C A 3: 99,891,925 (GRCm39) H260N probably benign Het
Spata2 A T 2: 167,327,283 (GRCm39) V38E possibly damaging Het
Syt14 T A 1: 192,665,966 (GRCm39) probably benign Het
Tbx21 A G 11: 96,990,597 (GRCm39) S329P probably damaging Het
Tex2 A T 11: 106,402,726 (GRCm39) probably null Het
Tmem62 A G 2: 120,824,058 (GRCm39) I244M possibly damaging Het
Tnks A T 8: 35,318,790 (GRCm39) N830K probably damaging Het
Tox2 A G 2: 163,156,264 (GRCm39) E145G probably damaging Het
Tpcn1 T C 5: 120,723,342 (GRCm39) D7G probably damaging Het
Ttc28 T A 5: 111,414,445 (GRCm39) M1320K probably benign Het
Tubgcp5 T G 7: 55,455,114 (GRCm39) V270G probably damaging Het
Unc5a A G 13: 55,152,297 (GRCm39) R62G probably damaging Het
Unc5d A G 8: 29,205,749 (GRCm39) probably null Het
Utrn T C 10: 12,558,082 (GRCm39) H1459R probably damaging Het
Vmn2r100 T A 17: 19,725,263 (GRCm39) L64Q possibly damaging Het
Wdr55 T G 18: 36,893,473 (GRCm39) L45R probably damaging Het
Zfp292 A G 4: 34,816,357 (GRCm39) Y306H probably damaging Het
Zfp398 G T 6: 47,843,243 (GRCm39) D300Y probably damaging Het
Zfp407 A G 18: 84,579,982 (GRCm39) V377A probably damaging Het
Zfp457 G A 13: 67,441,997 (GRCm39) H97Y probably benign Het
Zfp467 T C 6: 48,415,072 (GRCm39) T527A probably damaging Het
Other mutations in Or4s2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Or4s2b APN 2 88,509,077 (GRCm39) missense probably damaging 1.00
R0322:Or4s2b UTSW 2 88,509,011 (GRCm39) missense probably damaging 0.98
R0711:Or4s2b UTSW 2 88,509,018 (GRCm39) missense probably damaging 1.00
R1500:Or4s2b UTSW 2 88,508,219 (GRCm39) missense possibly damaging 0.73
R1610:Or4s2b UTSW 2 88,508,918 (GRCm39) nonsense probably null
R4380:Or4s2b UTSW 2 88,508,615 (GRCm39) missense possibly damaging 0.61
R4602:Or4s2b UTSW 2 88,508,523 (GRCm39) missense probably benign
R4602:Or4s2b UTSW 2 88,508,240 (GRCm39) missense probably benign 0.08
R4610:Or4s2b UTSW 2 88,508,523 (GRCm39) missense probably benign
R4610:Or4s2b UTSW 2 88,508,240 (GRCm39) missense probably benign 0.08
R4790:Or4s2b UTSW 2 88,508,731 (GRCm39) missense possibly damaging 0.73
R4803:Or4s2b UTSW 2 88,508,366 (GRCm39) missense probably benign 0.34
R5402:Or4s2b UTSW 2 88,508,492 (GRCm39) missense possibly damaging 0.74
R5736:Or4s2b UTSW 2 88,508,985 (GRCm39) missense probably benign 0.00
R6896:Or4s2b UTSW 2 88,508,340 (GRCm39) missense probably damaging 1.00
R6998:Or4s2b UTSW 2 88,508,852 (GRCm39) missense probably benign 0.23
R8806:Or4s2b UTSW 2 88,508,955 (GRCm39) missense probably benign 0.01
R9285:Or4s2b UTSW 2 88,508,680 (GRCm39) missense probably damaging 1.00
X0022:Or4s2b UTSW 2 88,508,664 (GRCm39) missense probably benign 0.08
Z1088:Or4s2b UTSW 2 88,509,008 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13