Incidental Mutation 'IGL01621:Or1e30'
ID 92559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1e30
Ensembl Gene ENSMUSG00000069818
Gene Name olfactory receptor family 1 subfamily E member 30
Synonyms Olfr390, MOR135-26, GA_x6K02T2P1NL-3938806-3939741
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL01621
Quality Score
Status
Chromosome 11
Chromosomal Location 73677766-73678701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73678103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 113 (F113S)
Ref Sequence ENSEMBL: ENSMUSP00000146162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
AlphaFold Q8VEZ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000092919
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: F113S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.1e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.2e-9 PFAM
Pfam:7tm_1 41 290 6.8e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120081
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: F113S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 305 7.2e-9 PFAM
Pfam:7tm_1 41 290 1.4e-36 PFAM
Pfam:7tm_4 139 283 5.6e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206815
AA Change: F113S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215161
AA Change: F113S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Or1e30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Or1e30 APN 11 73,678,406 (GRCm39) missense probably damaging 1.00
IGL01630:Or1e30 APN 11 73,678,687 (GRCm39) missense probably benign 0.14
IGL01866:Or1e30 APN 11 73,678,654 (GRCm39) missense probably benign 0.28
IGL02577:Or1e30 APN 11 73,677,872 (GRCm39) missense probably damaging 1.00
IGL02617:Or1e30 APN 11 73,678,560 (GRCm39) missense probably benign 0.01
IGL03017:Or1e30 APN 11 73,678,344 (GRCm39) missense probably benign 0.01
IGL03215:Or1e30 APN 11 73,678,211 (GRCm39) missense probably damaging 1.00
IGL03342:Or1e30 APN 11 73,678,309 (GRCm39) missense probably benign 0.03
IGL03098:Or1e30 UTSW 11 73,678,529 (GRCm39) missense probably benign 0.29
R0115:Or1e30 UTSW 11 73,678,141 (GRCm39) missense possibly damaging 0.45
R0217:Or1e30 UTSW 11 73,678,214 (GRCm39) missense possibly damaging 0.90
R1971:Or1e30 UTSW 11 73,678,616 (GRCm39) missense probably damaging 1.00
R2033:Or1e30 UTSW 11 73,678,264 (GRCm39) missense probably benign 0.15
R2058:Or1e30 UTSW 11 73,678,100 (GRCm39) missense probably benign 0.00
R3051:Or1e30 UTSW 11 73,678,060 (GRCm39) missense probably benign 0.01
R3622:Or1e30 UTSW 11 73,678,567 (GRCm39) missense probably benign 0.00
R3913:Or1e30 UTSW 11 73,678,522 (GRCm39) missense probably damaging 1.00
R4545:Or1e30 UTSW 11 73,677,992 (GRCm39) missense probably damaging 1.00
R4656:Or1e30 UTSW 11 73,678,337 (GRCm39) missense probably damaging 1.00
R5120:Or1e30 UTSW 11 73,677,790 (GRCm39) missense probably benign 0.01
R5635:Or1e30 UTSW 11 73,678,460 (GRCm39) missense probably benign 0.26
R6020:Or1e30 UTSW 11 73,678,378 (GRCm39) missense probably benign 0.03
R6151:Or1e30 UTSW 11 73,678,521 (GRCm39) nonsense probably null
R6885:Or1e30 UTSW 11 73,677,926 (GRCm39) missense possibly damaging 0.94
R6984:Or1e30 UTSW 11 73,678,603 (GRCm39) missense possibly damaging 0.91
R7057:Or1e30 UTSW 11 73,677,974 (GRCm39) missense possibly damaging 0.88
R7120:Or1e30 UTSW 11 73,677,940 (GRCm39) missense probably damaging 0.98
R7704:Or1e30 UTSW 11 73,678,616 (GRCm39) missense probably damaging 1.00
R8323:Or1e30 UTSW 11 73,677,766 (GRCm39) start codon destroyed probably damaging 1.00
R9100:Or1e30 UTSW 11 73,678,687 (GRCm39) missense probably benign 0.14
R9258:Or1e30 UTSW 11 73,678,281 (GRCm39) missense probably benign 0.28
R9384:Or1e30 UTSW 11 73,677,796 (GRCm39) missense probably benign
R9421:Or1e30 UTSW 11 73,677,927 (GRCm39) missense probably benign 0.23
R9450:Or1e30 UTSW 11 73,678,101 (GRCm39) missense possibly damaging 0.56
R9698:Or1e30 UTSW 11 73,678,442 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09