Incidental Mutation 'R4602:Or4s2b'
ID 345692
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4602 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88508201-88509157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88508240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 14 (V14I)
Ref Sequence ENSEMBL: ENSMUSP00000080399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
AlphaFold A2AV13
Predicted Effect probably benign
Transcript: ENSMUST00000081697
AA Change: V14I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
AA Change: V14I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000213893
AA Change: V7I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216767
AA Change: V7I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
Meta Mutation Damage Score 0.0771 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,189 (GRCm39) K3158E possibly damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Ankmy1 A T 1: 92,816,372 (GRCm39) N247K probably benign Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
Atp1a4 A C 1: 172,067,332 (GRCm39) M600R probably damaging Het
Baat A G 4: 49,502,727 (GRCm39) Y132H probably damaging Het
Ceacam15 A G 7: 16,405,906 (GRCm39) V215A probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clec14a C T 12: 58,314,767 (GRCm39) R285H probably benign Het
Ctnna1 T G 18: 35,312,880 (GRCm39) I244R possibly damaging Het
Dcxr T A 11: 120,617,130 (GRCm39) N105Y possibly damaging Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Faf1 A G 4: 109,584,625 (GRCm39) D67G probably benign Het
Fancm G A 12: 65,171,718 (GRCm39) R1786H probably benign Het
Fnbp1 A G 2: 30,926,552 (GRCm39) probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gbp5 A G 3: 142,209,546 (GRCm39) E164G probably benign Het
Gm4922 A T 10: 18,660,007 (GRCm39) Y238* probably null Het
Gm8257 A G 14: 44,893,774 (GRCm39) Y62H probably damaging Het
Grin2b A G 6: 135,755,739 (GRCm39) F525S probably damaging Het
Hjv T G 3: 96,434,869 (GRCm39) S203A probably benign Het
Hsd17b3 C A 13: 64,210,984 (GRCm39) probably null Het
Ighv1-23 T A 12: 114,728,179 (GRCm39) Q81L probably benign Het
Inpp4b T C 8: 82,696,164 (GRCm39) V366A probably damaging Het
Jak1 G T 4: 101,036,791 (GRCm39) A283D possibly damaging Het
Kmt2d G T 15: 98,748,140 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mettl17 T C 14: 52,126,246 (GRCm39) V218A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nfat5 C T 8: 108,093,855 (GRCm39) Q699* probably null Het
Or7e174 C A 9: 20,012,540 (GRCm39) H162N probably benign Het
Osbpl7 C A 11: 96,947,095 (GRCm39) S265R possibly damaging Het
Pcdh15 A G 10: 74,430,046 (GRCm39) T1258A probably damaging Het
Pcdh20 A T 14: 88,705,866 (GRCm39) L478Q probably damaging Het
Pde11a A G 2: 75,988,677 (GRCm39) V488A probably benign Het
Phactr1 A T 13: 43,248,441 (GRCm39) E463D probably benign Het
Phaf1 C A 8: 105,973,520 (GRCm39) N282K possibly damaging Het
Samd9l A T 6: 3,373,935 (GRCm39) Y1109N probably damaging Het
Samd9l GAA GAAA 6: 3,373,937 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Sgk2 G A 2: 162,836,674 (GRCm39) probably null Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Spaca6 C T 17: 18,051,387 (GRCm39) A21V probably damaging Het
Sphkap G T 1: 83,256,782 (GRCm39) Y322* probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Syt9 A T 7: 107,035,594 (GRCm39) K204* probably null Het
Taf3 A G 2: 9,957,468 (GRCm39) V233A probably damaging Het
Tbccd1 T C 16: 22,637,285 (GRCm39) probably null Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubac1 A T 2: 25,888,989 (GRCm39) I402N probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
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
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
R7038:Or4s2b UTSW 2 88,509,085 (GRCm39) missense probably damaging 1.00
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
(F):5'- GAAAGTGCTCTTCAAATATCTCACG -3'
(R):5'- TGAGGAGTAGCAAATGTCCAC -3'

Sequencing Primer
(F):5'- CACGATACTTTAAGAATTGGTTTGTG -3'
(R):5'- TGTCCACAAAAGACAGAAAGTTG -3'
Posted On 2015-09-25