Incidental Mutation 'IGL02169:Or8k33'
ID 282827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k33
Ensembl Gene ENSMUSG00000110912
Gene Name olfactory receptor family 8 subfamily K member 33
Synonyms GA_x6K02T2Q125-48039418-48038477, MOR192-1, Olfr1080
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02169
Quality Score
Status
Chromosome 2
Chromosomal Location 86383525-86388482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86384226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 81 (M81V)
Ref Sequence ENSEMBL: ENSMUSP00000150502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213185]
AlphaFold Q7TR67
Predicted Effect probably benign
Transcript: ENSMUST00000099881
AA Change: M81V

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097466
Gene: ENSMUSG00000075178
AA Change: M81V

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 1.5e-30 PFAM
Pfam:7tm_4 139 283 1.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213185
AA Change: M81V

PolyPhen 2 Score 0.391 (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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,843,408 (GRCm39) I1001F probably damaging Het
Amfr A T 8: 94,731,858 (GRCm39) probably null Het
Apol7c T G 15: 77,410,616 (GRCm39) D110A possibly damaging Het
Bcr A G 10: 74,995,714 (GRCm39) N899S probably benign Het
Ccnt2 T A 1: 127,702,126 (GRCm39) probably benign Het
Clptm1l G A 13: 73,759,782 (GRCm39) V281I probably damaging Het
Ctsr A G 13: 61,311,054 (GRCm39) probably benign Het
Dbh G A 2: 27,064,910 (GRCm39) V374M probably damaging Het
Eif3b A G 5: 140,415,836 (GRCm39) D385G possibly damaging Het
F830045P16Rik A G 2: 129,305,492 (GRCm39) V294A probably damaging Het
Foxj2 A G 6: 122,805,425 (GRCm39) N99S probably damaging Het
Gabrr1 T G 4: 33,160,261 (GRCm39) V315G probably damaging Het
Gm21988 T C 11: 70,129,764 (GRCm39) E25G probably benign Het
Islr A T 9: 58,065,415 (GRCm39) F31I possibly damaging Het
L2hgdh A T 12: 69,768,171 (GRCm39) L109Q probably damaging Het
Lrp6 A G 6: 134,490,290 (GRCm39) I96T probably damaging Het
Nup93 A G 8: 95,028,757 (GRCm39) D330G probably damaging Het
Or2ag19 T A 7: 106,444,473 (GRCm39) Y218* probably null Het
Phtf1 C A 3: 103,904,815 (GRCm39) L488I probably benign Het
Plac8l1 T C 18: 42,312,008 (GRCm39) D137G probably damaging Het
Pth1r G A 9: 110,553,503 (GRCm39) T392I probably damaging Het
Rab43 A G 6: 87,788,406 (GRCm39) F41L probably damaging Het
Ralgapb C T 2: 158,268,124 (GRCm39) L76F probably damaging Het
Ros1 A G 10: 51,958,053 (GRCm39) probably null Het
Rpl27a T C 7: 109,119,185 (GRCm39) I43T probably benign Het
Set G A 2: 29,959,536 (GRCm39) D129N possibly damaging Het
Sorbs2 A T 8: 46,276,786 (GRCm39) Y604F probably damaging Het
Tg T C 15: 66,629,792 (GRCm39) V491A probably benign Het
Txlna T C 4: 129,523,406 (GRCm39) T429A probably damaging Het
Vmn1r128 C T 7: 21,084,163 (GRCm39) P289L probably damaging Het
Wfs1 A G 5: 37,125,823 (GRCm39) F356S probably damaging Het
Zfp687 G A 3: 94,918,743 (GRCm39) T343I probably damaging Het
Zfp935 A G 13: 62,604,745 (GRCm39) probably null Het
Other mutations in Or8k33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Or8k33 APN 2 86,383,793 (GRCm39) missense probably benign 0.34
IGL02234:Or8k33 APN 2 86,383,610 (GRCm39) missense probably damaging 1.00
IGL02530:Or8k33 APN 2 86,384,224 (GRCm39) missense possibly damaging 0.60
R0046:Or8k33 UTSW 2 86,383,976 (GRCm39) missense probably damaging 1.00
R0360:Or8k33 UTSW 2 86,384,123 (GRCm39) missense probably damaging 1.00
R0364:Or8k33 UTSW 2 86,384,123 (GRCm39) missense probably damaging 1.00
R0377:Or8k33 UTSW 2 86,383,927 (GRCm39) missense probably damaging 1.00
R1496:Or8k33 UTSW 2 86,384,096 (GRCm39) missense probably damaging 1.00
R1609:Or8k33 UTSW 2 86,383,949 (GRCm39) missense probably damaging 1.00
R1674:Or8k33 UTSW 2 86,384,204 (GRCm39) missense probably damaging 0.96
R1816:Or8k33 UTSW 2 86,384,011 (GRCm39) nonsense probably null
R2870:Or8k33 UTSW 2 86,383,928 (GRCm39) missense possibly damaging 0.95
R2870:Or8k33 UTSW 2 86,383,928 (GRCm39) missense possibly damaging 0.95
R4387:Or8k33 UTSW 2 86,384,298 (GRCm39) missense probably damaging 1.00
R4915:Or8k33 UTSW 2 86,384,399 (GRCm39) missense probably damaging 1.00
R4924:Or8k33 UTSW 2 86,383,853 (GRCm39) missense probably damaging 1.00
R4987:Or8k33 UTSW 2 86,383,579 (GRCm39) splice site probably null 0.10
R5774:Or8k33 UTSW 2 86,384,351 (GRCm39) missense possibly damaging 0.68
R6305:Or8k33 UTSW 2 86,383,839 (GRCm39) missense possibly damaging 0.91
R6829:Or8k33 UTSW 2 86,383,613 (GRCm39) nonsense probably null
R7152:Or8k33 UTSW 2 86,383,673 (GRCm39) missense probably benign 0.14
R7561:Or8k33 UTSW 2 86,383,661 (GRCm39) missense probably benign 0.45
R7963:Or8k33 UTSW 2 86,383,639 (GRCm39) missense possibly damaging 0.86
R8031:Or8k33 UTSW 2 86,384,447 (GRCm39) missense probably damaging 1.00
R8177:Or8k33 UTSW 2 86,383,623 (GRCm39) missense noncoding transcript
R8349:Or8k33 UTSW 2 86,383,980 (GRCm39) missense probably benign 0.22
R8449:Or8k33 UTSW 2 86,383,980 (GRCm39) missense probably benign 0.22
R8490:Or8k33 UTSW 2 86,384,027 (GRCm39) missense probably benign 0.06
R8787:Or8k33 UTSW 2 86,384,297 (GRCm39) missense probably damaging 1.00
R8801:Or8k33 UTSW 2 86,383,727 (GRCm39) missense probably benign 0.22
R8808:Or8k33 UTSW 2 86,384,297 (GRCm39) missense probably damaging 1.00
R9035:Or8k33 UTSW 2 86,384,021 (GRCm39) missense probably damaging 0.98
R9301:Or8k33 UTSW 2 86,383,818 (GRCm39) missense possibly damaging 0.91
Z1088:Or8k33 UTSW 2 86,384,310 (GRCm39) missense probably benign 0.40
Z1191:Or8k33 UTSW 2 86,384,471 (GRCm39) start gained probably benign
Posted On 2015-04-16