Incidental Mutation 'IGL01371:Or5t17'
ID 76159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5t17
Ensembl Gene ENSMUSG00000049843
Gene Name olfactory receptor family 5 subfamily T member 17
Synonyms MOR179-4, GA_x6K02T2Q125-48487992-48488966, Olfr1102
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL01371
Quality Score
Status
Chromosome 2
Chromosomal Location 86832276-86833338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86833267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 318 (K318M)
Ref Sequence ENSEMBL: ENSMUSP00000149634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055129] [ENSMUST00000214002]
AlphaFold Q8VES2
Predicted Effect probably benign
Transcript: ENSMUST00000055129
AA Change: K318M

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052861
Gene: ENSMUSG00000049843
AA Change: K318M

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:7tm_4 43 320 8.1e-52 PFAM
Pfam:7TM_GPCR_Srsx 47 322 8.7e-6 PFAM
Pfam:7tm_1 53 302 3.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214002
AA Change: K318M

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,602,340 (GRCm39) R691Q probably benign Het
Ambra1 G T 2: 91,655,631 (GRCm39) G700W probably damaging Het
Atp6v1c1 A G 15: 38,683,204 (GRCm39) I198V probably benign Het
Bptf T C 11: 106,946,733 (GRCm39) N2353S probably benign Het
Cd84 A T 1: 171,713,937 (GRCm39) T312S probably benign Het
Chl1 G T 6: 103,692,325 (GRCm39) C1064F probably damaging Het
Clca4a T C 3: 144,666,433 (GRCm39) D473G probably damaging Het
Dsp A G 13: 38,377,593 (GRCm39) R1793G probably benign Het
Dync1h1 A G 12: 110,605,285 (GRCm39) N2374S probably benign Het
Ecpas A G 4: 58,809,718 (GRCm39) L1583P probably damaging Het
Gm43191 A T 3: 116,439,112 (GRCm39) I130N probably damaging Het
Gm5134 T G 10: 75,840,581 (GRCm39) L475R probably damaging Het
Grm1 A G 10: 10,595,783 (GRCm39) V615A probably benign Het
Inhca T C 9: 103,131,975 (GRCm39) E504G possibly damaging Het
Loxl1 T A 9: 58,201,705 (GRCm39) Q462L possibly damaging Het
Nwd1 T C 8: 73,401,743 (GRCm39) W755R probably damaging Het
Or10j27 A G 1: 172,958,098 (GRCm39) S229P possibly damaging Het
Or5b106 G A 19: 13,123,192 (GRCm39) T277I possibly damaging Het
Otud4 T C 8: 80,400,390 (GRCm39) F1034L probably damaging Het
Pakap C A 4: 57,856,325 (GRCm39) D551E probably benign Het
Panx3 T G 9: 37,572,771 (GRCm39) T260P probably benign Het
Ppfia4 A T 1: 134,255,824 (GRCm39) S194T probably benign Het
Rnf135 T A 11: 80,080,081 (GRCm39) I124N probably benign Het
Rpf1 T C 3: 146,213,302 (GRCm39) N283S probably damaging Het
Smg5 A G 3: 88,266,951 (GRCm39) probably benign Het
Stard9 A G 2: 120,531,849 (GRCm39) E2702G probably benign Het
Tbk1 A T 10: 121,395,776 (GRCm39) M439K probably benign Het
Tmem235 T C 11: 117,753,132 (GRCm39) L85P possibly damaging Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Ttn T C 2: 76,620,608 (GRCm39) probably benign Het
Vmn1r83 A G 7: 12,055,160 (GRCm39) F299S probably benign Het
Other mutations in Or5t17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Or5t17 APN 2 86,832,495 (GRCm39) missense probably benign 0.04
IGL01913:Or5t17 APN 2 86,833,164 (GRCm39) missense possibly damaging 0.68
IGL02672:Or5t17 APN 2 86,832,417 (GRCm39) missense probably benign 0.00
R0003:Or5t17 UTSW 2 86,832,710 (GRCm39) nonsense probably null
R0003:Or5t17 UTSW 2 86,832,710 (GRCm39) nonsense probably null
R1674:Or5t17 UTSW 2 86,832,577 (GRCm39) missense probably benign 0.07
R1688:Or5t17 UTSW 2 86,832,730 (GRCm39) missense probably benign 0.01
R3826:Or5t17 UTSW 2 86,832,388 (GRCm39) missense probably damaging 0.97
R3925:Or5t17 UTSW 2 86,832,718 (GRCm39) missense possibly damaging 0.91
R4023:Or5t17 UTSW 2 86,833,266 (GRCm39) nonsense probably null
R4730:Or5t17 UTSW 2 86,832,510 (GRCm39) missense possibly damaging 0.48
R5154:Or5t17 UTSW 2 86,832,382 (GRCm39) missense probably benign 0.00
R5525:Or5t17 UTSW 2 86,832,683 (GRCm39) missense possibly damaging 0.95
R5685:Or5t17 UTSW 2 86,832,621 (GRCm39) missense probably benign 0.02
R5788:Or5t17 UTSW 2 86,832,645 (GRCm39) missense probably benign 0.01
R6280:Or5t17 UTSW 2 86,832,364 (GRCm39) missense probably damaging 0.99
R7178:Or5t17 UTSW 2 86,832,879 (GRCm39) missense probably benign 0.07
R9493:Or5t17 UTSW 2 86,833,140 (GRCm39) missense probably benign 0.45
R9745:Or5t17 UTSW 2 86,832,487 (GRCm39) missense probably benign 0.28
Z1176:Or5t17 UTSW 2 86,832,955 (GRCm39) missense probably benign 0.00
Z1176:Or5t17 UTSW 2 86,832,954 (GRCm39) missense probably benign 0.04
Posted On 2013-10-07