Incidental Mutation 'R6495:Or5b116'
ID 520485
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 044627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6495 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13422378-13423322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13422989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 204 (D204E)
Ref Sequence ENSEMBL: ENSMUSP00000149948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096203] [ENSMUST00000217249] [ENSMUST00000217482]
AlphaFold F6QVZ8
Predicted Effect probably benign
Transcript: ENSMUST00000096203
AA Change: D204E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: D204E

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000217249
AA Change: D204E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217482
AA Change: D204E

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,740,148 (GRCm39) E502V probably damaging Het
Apbb1ip T A 2: 22,743,132 (GRCm39) Y321* probably null Het
Apob A G 12: 8,040,394 (GRCm39) K577R probably null Het
Arfgef3 A G 10: 18,486,950 (GRCm39) probably null Het
Asap3 T A 4: 135,955,790 (GRCm39) probably null Het
Atp13a5 C T 16: 29,140,440 (GRCm39) probably null Het
Bcan C A 3: 87,903,904 (GRCm39) A194S possibly damaging Het
Cacybp T C 1: 160,036,093 (GRCm39) T32A probably benign Het
Cd82 A G 2: 93,260,357 (GRCm39) V90A probably benign Het
Chd5 C T 4: 152,451,829 (GRCm39) R714C probably damaging Het
Cpb2 T C 14: 75,512,519 (GRCm39) Y311H probably damaging Het
Cyp39a1 T C 17: 44,002,585 (GRCm39) Y267H probably benign Het
Dnajc6 C T 4: 101,492,262 (GRCm39) Q766* probably null Het
Dusp3 T C 11: 101,872,653 (GRCm39) I48V probably benign Het
Eif3c A T 7: 126,146,672 (GRCm39) F809I probably damaging Het
Exosc10 C T 4: 148,647,329 (GRCm39) P213S probably benign Het
Galns C T 8: 123,327,349 (GRCm39) G141D probably damaging Het
Gm3233 A T 10: 77,594,886 (GRCm39) probably benign Het
Hadha A T 5: 30,325,048 (GRCm39) L714H probably benign Het
Map3k20 T C 2: 72,198,763 (GRCm39) M123T probably damaging Het
Nt5dc1 A G 10: 34,200,365 (GRCm39) L217P probably damaging Het
Nubp2 A T 17: 25,104,577 (GRCm39) D54E probably damaging Het
Onecut1 C T 9: 74,770,497 (GRCm39) R307C probably damaging Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pkd2 T A 5: 104,637,159 (GRCm39) C591S probably damaging Het
Pramel15 T C 4: 144,103,409 (GRCm39) N239S probably benign Het
Pwp2 A T 10: 78,012,961 (GRCm39) V549E probably damaging Het
Rapsn A T 2: 90,866,973 (GRCm39) S92C probably damaging Het
Rbm19 A G 5: 120,257,745 (GRCm39) S90G probably damaging Het
Rfc1 G A 5: 65,431,158 (GRCm39) probably null Het
Rims2 T A 15: 39,381,208 (GRCm39) F1046L probably benign Het
S100a16 C T 3: 90,449,735 (GRCm39) R73C probably benign Het
Shroom3 T C 5: 93,089,928 (GRCm39) Y893H possibly damaging Het
Stt3b T A 9: 115,096,388 (GRCm39) Y253F possibly damaging Het
Taar8b A G 10: 23,967,160 (GRCm39) *345Q probably null Het
Tas2r119 G A 15: 32,177,676 (GRCm39) V81I probably benign Het
Tas2r129 A G 6: 132,928,128 (GRCm39) I22V probably benign Het
Tbc1d19 T G 5: 54,046,555 (GRCm39) probably null Het
Tnip3 A T 6: 65,582,846 (GRCm39) I218F probably benign Het
Tnks A T 8: 35,307,120 (GRCm39) probably null Het
Ttc29 T C 8: 79,008,963 (GRCm39) Y278H possibly damaging Het
Tut7 T C 13: 59,947,753 (GRCm39) E454G possibly damaging Het
Uba7 T A 9: 107,854,213 (GRCm39) C214* probably null Het
Vmn2r115 A T 17: 23,578,572 (GRCm39) I682F probably benign Het
Vmn2r75 A T 7: 85,813,287 (GRCm39) M505K probably benign Het
Wdr19 A T 5: 65,415,466 (GRCm39) T1313S probably benign Het
Zbtb22 A G 17: 34,136,224 (GRCm39) D123G probably damaging Het
Zdhhc7 A G 8: 120,813,395 (GRCm39) I138T probably benign Het
Zfp706 T C 15: 37,004,045 (GRCm39) K7R unknown Het
Zkscan3 G A 13: 21,572,075 (GRCm39) P519L 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
R0267:Or5b116 UTSW 19 13,422,792 (GRCm39) missense probably damaging 0.99
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
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
(F):5'- CATTATGACAAGTACCACCTGC -3'
(R):5'- TGGAATGATTGAAACTGGGCTG -3'

Sequencing Primer
(F):5'- CACCTGCTGCTACATGTGTGG -3'
(R):5'- TTGAAACTGGGCTGTAAGTACATG -3'
Posted On 2018-06-06