Incidental Mutation 'IGL02043:Or1q1'
ID 184818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1q1
Ensembl Gene ENSMUSG00000055838
Gene Name olfactory receptor family 1 subfamily Q member 1
Synonyms GA_x6K02T2NLDC-33688556-33689482, MOR138-3, Olfr357
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02043
Quality Score
Status
Chromosome 2
Chromosomal Location 36886824-36887750 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 36887477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 218 (Y218*)
Ref Sequence ENSEMBL: ENSMUSP00000149727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069578] [ENSMUST00000213218] [ENSMUST00000216437]
AlphaFold Q8VFP4
Predicted Effect probably null
Transcript: ENSMUST00000069578
AA Change: Y218*
SMART Domains Protein: ENSMUSP00000066272
Gene: ENSMUSG00000055838
AA Change: Y218*

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.6e-53 PFAM
Pfam:7tm_1 41 290 1.2e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213218
AA Change: Y218*
Predicted Effect probably benign
Transcript: ENSMUST00000216437
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Or1q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Or1q1 APN 2 36,886,955 (GRCm39) missense probably benign
IGL02277:Or1q1 APN 2 36,887,196 (GRCm39) splice site probably null
IGL03037:Or1q1 APN 2 36,887,560 (GRCm39) missense probably benign 0.00
IGL03378:Or1q1 APN 2 36,886,915 (GRCm39) missense probably damaging 1.00
R0212:Or1q1 UTSW 2 36,887,644 (GRCm39) missense possibly damaging 0.92
R0212:Or1q1 UTSW 2 36,887,335 (GRCm39) missense probably damaging 0.98
R1334:Or1q1 UTSW 2 36,886,872 (GRCm39) missense probably benign 0.27
R1704:Or1q1 UTSW 2 36,886,896 (GRCm39) missense probably benign 0.34
R2020:Or1q1 UTSW 2 36,887,664 (GRCm39) missense possibly damaging 0.85
R2364:Or1q1 UTSW 2 36,887,577 (GRCm39) missense probably damaging 1.00
R4700:Or1q1 UTSW 2 36,887,515 (GRCm39) missense probably benign 0.01
R5105:Or1q1 UTSW 2 36,887,469 (GRCm39) splice site probably null
R5234:Or1q1 UTSW 2 36,887,107 (GRCm39) missense probably benign
R5557:Or1q1 UTSW 2 36,887,358 (GRCm39) missense probably damaging 1.00
R5966:Or1q1 UTSW 2 36,886,957 (GRCm39) missense possibly damaging 0.96
R6480:Or1q1 UTSW 2 36,887,007 (GRCm39) missense probably benign 0.00
R7046:Or1q1 UTSW 2 36,887,173 (GRCm39) missense probably benign 0.39
R7350:Or1q1 UTSW 2 36,886,873 (GRCm39) missense possibly damaging 0.84
R7583:Or1q1 UTSW 2 36,887,092 (GRCm39) missense probably damaging 1.00
R8128:Or1q1 UTSW 2 36,887,673 (GRCm39) missense probably benign 0.13
R8196:Or1q1 UTSW 2 36,886,873 (GRCm39) missense possibly damaging 0.84
R8475:Or1q1 UTSW 2 36,887,066 (GRCm39) missense probably damaging 0.99
R8867:Or1q1 UTSW 2 36,887,691 (GRCm39) missense probably damaging 1.00
R9550:Or1q1 UTSW 2 36,887,137 (GRCm39) missense probably damaging 1.00
R9627:Or1q1 UTSW 2 36,887,665 (GRCm39) missense
R9716:Or1q1 UTSW 2 36,887,290 (GRCm39) missense probably damaging 0.98
Z1088:Or1q1 UTSW 2 36,887,717 (GRCm39) missense possibly damaging 0.96
Posted On 2014-05-07