Incidental Mutation 'R6631:Or5b117'
ID 525187
Institutional Source Beutler Lab
Gene Symbol Or5b117
Ensembl Gene ENSMUSG00000095189
Gene Name olfactory receptor family 5 subfamily B member 117
Synonyms Olfr1472, GA_x6K02T2RE5P-3787124-3786180, MOR202-16
MMRRC Submission 044753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13430935-13431879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13431185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 232 (Q232L)
Ref Sequence ENSEMBL: ENSMUSP00000093915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]
AlphaFold Q7TQQ9
Predicted Effect probably benign
Transcript: ENSMUST00000077501
AA Change: Q232L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: Q232L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 5.2e-8 PFAM
Pfam:7tm_1 39 288 6.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096201
AA Change: Q232L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: Q232L

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 34 304 2.6e-6 PFAM
Pfam:7tm_1 40 289 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,203,326 (GRCm39) N159K probably damaging Het
Arhgef10l T C 4: 140,245,058 (GRCm39) probably benign Het
Atosa A G 9: 74,861,107 (GRCm39) D4G possibly damaging Het
Avil A G 10: 126,843,618 (GRCm39) S153G possibly damaging Het
C2cd3 G A 7: 100,067,747 (GRCm39) D877N probably damaging Het
Clca3a2 G A 3: 144,519,405 (GRCm39) A257V probably benign Het
Cramp1 T A 17: 25,202,931 (GRCm39) H366L probably benign Het
Cyp2c37 C T 19: 39,998,287 (GRCm39) S393L probably damaging Het
Defb8 T A 8: 19,495,950 (GRCm39) I37L probably benign Het
Dennd4b C A 3: 90,185,039 (GRCm39) probably null Het
Eps8l2 G A 7: 140,936,115 (GRCm39) R223H probably damaging Het
Erbin A G 13: 103,961,400 (GRCm39) L1302P probably benign Het
Exoc3l A G 8: 106,021,993 (GRCm39) W37R probably damaging Het
Fap T C 2: 62,333,725 (GRCm39) N668S probably damaging Het
Gas7 A G 11: 67,565,107 (GRCm39) N250S probably damaging Het
H2bc12 T A 13: 22,220,391 (GRCm39) V112E probably damaging Het
Hivep1 C A 13: 42,309,956 (GRCm39) P732Q probably damaging Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Itgb8 A T 12: 119,144,712 (GRCm39) L332* probably null Het
Kctd19 A G 8: 106,111,960 (GRCm39) probably null Het
Kif14 G A 1: 136,443,697 (GRCm39) S1290N probably benign Het
Klk1b3 C T 7: 43,850,888 (GRCm39) T140I probably benign Het
Lama1 A G 17: 68,081,477 (GRCm39) N1305D probably benign Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Man2b1 A G 8: 85,813,440 (GRCm39) probably null Het
Mocos A G 18: 24,832,988 (GRCm39) T818A probably benign Het
Mpc2 G T 1: 165,307,081 (GRCm39) W94L probably benign Het
Mrc1 G A 2: 14,243,296 (GRCm39) V141I probably benign Het
Nalcn T C 14: 123,697,663 (GRCm39) T538A probably benign Het
Ndufs3 G A 2: 90,732,744 (GRCm39) T114M probably damaging Het
Noct T C 3: 51,157,621 (GRCm39) C320R probably damaging Het
Pcdha11 G T 18: 37,138,844 (GRCm39) A158S probably damaging Het
Pcdhga8 T A 18: 37,860,109 (GRCm39) D388E probably benign Het
Peg3 T C 7: 6,712,069 (GRCm39) E1051G possibly damaging Het
Phlda2 T A 7: 143,055,918 (GRCm39) I104F probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Pomt2 C T 12: 87,186,417 (GRCm39) probably null Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Prdm2 T G 4: 142,861,454 (GRCm39) Q612P probably benign Het
Prr5 C A 15: 84,586,978 (GRCm39) R243S probably damaging Het
Ptgdr2 T C 19: 10,918,233 (GRCm39) I250T probably benign Het
Rad54l2 A T 9: 106,590,739 (GRCm39) C462* probably null Het
Sec16a T A 2: 26,329,969 (GRCm39) E682V probably damaging Het
Serpina3i A G 12: 104,232,725 (GRCm39) D210G probably damaging Het
Slain2 T A 5: 73,114,748 (GRCm39) D326E probably benign Het
Sned1 A G 1: 93,209,374 (GRCm39) E829G probably damaging Het
Steap4 G A 5: 8,026,995 (GRCm39) W319* probably null Het
Taar8c A G 10: 23,977,701 (GRCm39) V37A probably benign Het
Tdrd12 T A 7: 35,184,654 (GRCm39) Y753F probably damaging Het
Tnxb A G 17: 34,937,222 (GRCm39) S3770G probably damaging Het
Trrap A G 5: 144,708,460 (GRCm39) N48S possibly damaging Het
Zfp558 C A 9: 18,368,219 (GRCm39) G190* probably null Het
Other mutations in Or5b117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Or5b117 APN 19 13,431,204 (GRCm39) missense possibly damaging 0.46
IGL01755:Or5b117 APN 19 13,431,179 (GRCm39) missense probably damaging 1.00
IGL01885:Or5b117 APN 19 13,431,449 (GRCm39) missense probably benign 0.00
IGL02366:Or5b117 APN 19 13,431,491 (GRCm39) missense probably damaging 1.00
IGL03074:Or5b117 APN 19 13,431,417 (GRCm39) missense probably damaging 0.98
R0592:Or5b117 UTSW 19 13,431,069 (GRCm39) missense probably benign 0.00
R1085:Or5b117 UTSW 19 13,431,594 (GRCm39) missense possibly damaging 0.75
R4207:Or5b117 UTSW 19 13,431,835 (GRCm39) missense probably benign 0.15
R4856:Or5b117 UTSW 19 13,431,885 (GRCm39) splice site probably null
R4886:Or5b117 UTSW 19 13,431,885 (GRCm39) splice site probably null
R5061:Or5b117 UTSW 19 13,431,349 (GRCm39) nonsense probably null
R5167:Or5b117 UTSW 19 13,431,741 (GRCm39) missense probably damaging 1.00
R5509:Or5b117 UTSW 19 13,431,332 (GRCm39) missense probably damaging 1.00
R5586:Or5b117 UTSW 19 13,431,746 (GRCm39) missense probably benign 0.02
R5987:Or5b117 UTSW 19 13,431,324 (GRCm39) missense possibly damaging 0.57
R7976:Or5b117 UTSW 19 13,431,563 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTATACGACAGGGTTCAGCATAG -3'
(R):5'- GTGGAATCTTGCAATCCTCTATTC -3'

Sequencing Primer
(F):5'- GTTCAGCATAGGAATCACCATAGTG -3'
(R):5'- AATCTTGCAATCCTCTATTCATGTTG -3'
Posted On 2018-06-22