Incidental Mutation 'R2253:Or5b116'
ID 241839
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 040253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2253 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 13422378-13423322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13422549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 58 (Y58H)
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: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: Y58H

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 damaging
Transcript: ENSMUST00000217249
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217482
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acss3 G A 10: 106,840,609 (GRCm39) A384V probably damaging Het
Aff2 G A X: 68,878,409 (GRCm39) E732K possibly damaging Het
Atp12a A G 14: 56,613,715 (GRCm39) T496A probably benign Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Bptf G T 11: 107,002,148 (GRCm39) D321E probably damaging Het
C1ql3 C T 2: 13,015,130 (GRCm39) V177I possibly damaging Het
C2cd5 A T 6: 142,982,042 (GRCm39) Y607* probably null Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd248 A G 19: 5,118,154 (GRCm39) M1V probably null Het
Cdh18 A G 15: 23,410,891 (GRCm39) T405A probably benign Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Gch1 T C 14: 47,426,798 (GRCm39) probably benign Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kank4 A T 4: 98,667,463 (GRCm39) I328N probably damaging Het
Krt9 A T 11: 100,081,685 (GRCm39) N281K possibly damaging Het
Lgals12 T A 19: 7,584,130 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Mbtps2 A T X: 156,342,029 (GRCm39) F270L probably benign Het
Nr3c1 G T 18: 39,619,804 (GRCm39) T161K probably benign Het
Or2w3b T C 11: 58,623,821 (GRCm39) T57A probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Pla2g4d T C 2: 120,101,622 (GRCm39) K453E probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Prl3d1 T C 13: 27,278,981 (GRCm39) Y59H possibly damaging Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Rnf181 G T 6: 72,338,467 (GRCm39) H14N possibly damaging Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc13a4 A G 6: 35,257,418 (GRCm39) V240A probably benign Het
Slc2a5 T C 4: 150,224,447 (GRCm39) Y315H possibly damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spib A G 7: 44,179,392 (GRCm39) S23P probably benign Het
Tbc1d1 A G 5: 64,442,143 (GRCm39) N721S probably benign Het
Tcf25 A G 8: 124,100,772 (GRCm39) E54G probably benign Het
Tesl2 G A X: 23,824,950 (GRCm39) A75V probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba7 A G 9: 107,853,563 (GRCm39) H131R probably benign Het
Vmn2r6 C T 3: 64,467,139 (GRCm39) C120Y probably damaging Het
Zdhhc18 A T 4: 133,360,388 (GRCm39) probably null Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null 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
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
(F):5'- CCTAATATACAATGTCCTTCACCAG -3'
(R):5'- TGCTGCATGACGGTCATAGG -3'

Sequencing Primer
(F):5'- CCAGGAACTTGTCATAATTAGTCATC -3'
(R):5'- TGCATGACGGTCATAGGCCATC -3'
Posted On 2014-10-16