Incidental Mutation 'R0267:Or5b116'
ID 35030
Institutional Source Beutler Lab
Gene Symbol Or5b116
Ensembl Gene ENSMUSG00000096320
Gene Name olfactory receptor family 5 subfamily B member 116
Synonyms GA_x6K02T2RE5P-3777626-3778570, Olfr1471, MOR202-47_p, MOR202-38
MMRRC Submission 038493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0267 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13422378-13423322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13422792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 139 (C139S)
Ref Sequence ENSEMBL: ENSMUSP00000149948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096203] [ENSMUST00000217249] [ENSMUST00000217482]
AlphaFold F6QVZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000096203
AA Change: C139S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: C139S

Pfam:7tm_4 29 306 1.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.1e-8 PFAM
Pfam:7tm_1 39 288 4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
Predicted Effect probably damaging
Transcript: ENSMUST00000217249
AA Change: C139S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217482
AA Change: C139S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm39) F1721S probably damaging Het
Adgrb1 G A 15: 74,401,238 (GRCm39) R78H probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Adrb1 A T 19: 56,711,923 (GRCm39) K374* probably null Het
Aldh18a1 C A 19: 40,562,233 (GRCm39) V264F probably benign Het
Aldh1l2 C T 10: 83,358,551 (GRCm39) probably benign Het
Alox15 T A 11: 70,236,979 (GRCm39) H393L probably damaging Het
Aox1 A G 1: 58,378,605 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,288 (GRCm39) Y297C probably damaging Het
Atxn2l T G 7: 126,092,379 (GRCm39) Q950P probably damaging Het
Bicd1 A T 6: 149,418,540 (GRCm39) D737V probably damaging Het
C9 T C 15: 6,496,939 (GRCm39) I212T probably benign Het
Ccdc63 A T 5: 122,255,107 (GRCm39) probably benign Het
Chst1 C A 2: 92,443,951 (GRCm39) P141Q probably damaging Het
Cped1 T A 6: 22,119,475 (GRCm39) F311L probably damaging Het
D6Wsu163e T A 6: 126,923,454 (GRCm39) H113Q probably benign Het
Dcn A T 10: 97,342,345 (GRCm39) probably benign Het
Dmbx1 C T 4: 115,775,309 (GRCm39) A324T probably benign Het
Dock10 G T 1: 80,490,171 (GRCm39) Q1618K probably damaging Het
Dpyd A G 3: 118,710,921 (GRCm39) E443G probably benign Het
Espl1 T C 15: 102,221,452 (GRCm39) V953A possibly damaging Het
Exosc10 T C 4: 148,647,213 (GRCm39) L174P probably damaging Het
Foxg1 A G 12: 49,432,365 (GRCm39) Y366C probably damaging Het
Fxyd3 T C 7: 30,770,159 (GRCm39) probably benign Het
Gbp2 T C 3: 142,335,867 (GRCm39) V189A probably benign Het
Gins4 T C 8: 23,719,426 (GRCm39) probably benign Het
Gm12789 A G 4: 101,845,319 (GRCm39) T3A probably benign Het
Gnb1l T C 16: 18,366,839 (GRCm39) probably benign Het
Gtpbp3 T C 8: 71,944,141 (GRCm39) L295S probably damaging Het
Hrh4 C A 18: 13,155,455 (GRCm39) Y331* probably null Het
Hsd11b1 A T 1: 192,923,705 (GRCm39) Y52N probably damaging Het
Jam3 A G 9: 27,017,701 (GRCm39) I29T probably benign Het
Kctd16 T A 18: 40,663,930 (GRCm39) I353N probably benign Het
Lama4 G T 10: 38,904,635 (GRCm39) G246C probably damaging Het
Lhx3 T A 2: 26,093,040 (GRCm39) M137L probably benign Het
Morc2a T C 11: 3,628,567 (GRCm39) I340T probably benign Het
Myo7a A C 7: 97,703,831 (GRCm39) I1969S probably benign Het
Or14a258 T C 7: 86,035,475 (GRCm39) E131G possibly damaging Het
Or6n1 A G 1: 173,916,732 (GRCm39) N42S probably damaging Het
Pclo T C 5: 14,731,194 (GRCm39) L3232P unknown Het
Polr1a T G 6: 71,951,123 (GRCm39) I1407M probably damaging Het
Ppip5k2 A G 1: 97,656,722 (GRCm39) V817A probably damaging Het
Rbfox3 T C 11: 118,386,066 (GRCm39) T280A probably benign Het
Rfx3 T C 19: 27,771,188 (GRCm39) D521G probably benign Het
Scn5a C T 9: 119,372,201 (GRCm39) V223I probably damaging Het
Sgsm3 T G 15: 80,890,803 (GRCm39) M119R probably damaging Het
Slc6a7 T A 18: 61,129,783 (GRCm39) M608L probably benign Het
Slit2 A G 5: 48,339,673 (GRCm39) probably benign Het
Steap2 T A 5: 5,723,561 (GRCm39) I440F probably benign Het
Syn2 T G 6: 115,231,111 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tfb2m G A 1: 179,361,203 (GRCm39) H262Y probably benign Het
Trmt1l A G 1: 151,333,426 (GRCm39) probably benign Het
Trpm6 C A 19: 18,800,742 (GRCm39) P819T probably benign Het
Ttn G A 2: 76,574,033 (GRCm39) A25620V probably damaging Het
Ubn2 T C 6: 38,459,553 (GRCm39) probably null Het
Vars1 T C 17: 35,230,572 (GRCm39) probably benign Het
Vip A T 10: 5,594,004 (GRCm39) D119V possibly damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps33b T C 7: 79,935,802 (GRCm39) I405T possibly damaging Het
Zbtb21 T A 16: 97,753,300 (GRCm39) S356C probably damaging Het
Zdhhc6 A T 19: 55,297,362 (GRCm39) S237T probably benign Het
Zfp142 G A 1: 74,615,223 (GRCm39) A427V probably benign Het
Zfp692 T A 11: 58,205,140 (GRCm39) V463E possibly damaging Het
Zmynd8 A T 2: 165,670,322 (GRCm39) I384N probably damaging Het
Other mutations in Or5b116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Or5b116 APN 19 13,422,988 (GRCm39) missense probably benign 0.00
IGL01790:Or5b116 APN 19 13,422,526 (GRCm39) missense probably damaging 1.00
IGL02515:Or5b116 APN 19 13,422,472 (GRCm39) missense probably damaging 1.00
IGL02838:Or5b116 APN 19 13,423,299 (GRCm39) missense probably benign
IGL03182:Or5b116 APN 19 13,422,807 (GRCm39) missense possibly damaging 0.93
R0524:Or5b116 UTSW 19 13,423,228 (GRCm39) missense probably damaging 1.00
R1584:Or5b116 UTSW 19 13,423,023 (GRCm39) missense probably damaging 1.00
R2253:Or5b116 UTSW 19 13,422,549 (GRCm39) missense probably damaging 1.00
R5267:Or5b116 UTSW 19 13,422,475 (GRCm39) missense probably damaging 1.00
R6419:Or5b116 UTSW 19 13,423,131 (GRCm39) missense probably benign 0.00
R6495:Or5b116 UTSW 19 13,422,989 (GRCm39) missense probably benign 0.43
R7714:Or5b116 UTSW 19 13,423,252 (GRCm39) missense probably damaging 1.00
R7830:Or5b116 UTSW 19 13,422,985 (GRCm39) missense probably benign 0.33
R7882:Or5b116 UTSW 19 13,422,951 (GRCm39) missense probably benign 0.02
R7892:Or5b116 UTSW 19 13,422,662 (GRCm39) nonsense probably null
Z1088:Or5b116 UTSW 19 13,423,213 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09