Incidental Mutation 'IGL02617:Or1e30'
ID 300692
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 # IGL02617
Quality Score
Status
Chromosome 11
Chromosomal Location 73677766-73678701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73678560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 265 (N265K)
Ref Sequence ENSEMBL: ENSMUSP00000148992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
AlphaFold Q8VEZ7
Predicted Effect probably benign
Transcript: ENSMUST00000092919
AA Change: N265K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: N265K

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 probably benign
Transcript: ENSMUST00000120081
AA Change: N265K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: N265K

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 benign
Transcript: ENSMUST00000206815
Predicted Effect probably benign
Transcript: ENSMUST00000215161
AA Change: N265K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,394,807 (GRCm39) Q172* probably null Het
Adgrg5 A G 8: 95,660,610 (GRCm39) D79G probably benign Het
Aga G A 8: 53,973,348 (GRCm39) D249N possibly damaging Het
Aifm3 A G 16: 17,318,397 (GRCm39) Q170R probably null Het
Cdh2 T A 18: 16,760,661 (GRCm39) N512Y probably damaging Het
Chd8 A G 14: 52,472,648 (GRCm39) I385T probably benign Het
Clic6 A G 16: 92,296,206 (GRCm39) K289E probably benign Het
Ctcf G T 8: 106,403,842 (GRCm39) probably benign Het
Fat1 T C 8: 45,488,628 (GRCm39) Y3447H probably benign Het
Fhip1a A T 3: 85,580,344 (GRCm39) D620E probably benign Het
Fmo2 T A 1: 162,704,490 (GRCm39) Q472L probably damaging Het
Gcnt3 C A 9: 69,941,444 (GRCm39) G375W probably damaging Het
Golga3 T A 5: 110,336,612 (GRCm39) V417E probably benign Het
Hivep3 T C 4: 119,952,641 (GRCm39) L319P probably benign Het
Kctd13 A G 7: 126,541,504 (GRCm39) K248R possibly damaging Het
Magel2 G A 7: 62,029,946 (GRCm39) R950H unknown Het
Niban1 T A 1: 151,447,296 (GRCm39) S6T probably benign Het
Nmt2 A G 2: 3,315,750 (GRCm39) I247V probably benign Het
Or14a256 T G 7: 86,264,872 (GRCm39) H327P probably benign Het
Pcdhb12 T C 18: 37,570,099 (GRCm39) V415A probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prr27 T A 5: 87,990,518 (GRCm39) N43K probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sec24a A T 11: 51,603,014 (GRCm39) probably null Het
Srek1ip1 C A 13: 104,973,984 (GRCm39) H130Q possibly damaging Het
Trio C T 15: 27,841,935 (GRCm39) probably benign Het
Ttn A G 2: 76,608,614 (GRCm39) probably benign Het
Vmn2r65 C A 7: 84,589,549 (GRCm39) S789I probably damaging Het
Zbtb17 A G 4: 141,192,399 (GRCm39) Q448R probably damaging Het
Other mutations in Or1e30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Or1e30 APN 11 73,678,406 (GRCm39) missense probably damaging 1.00
IGL01621:Or1e30 APN 11 73,678,103 (GRCm39) missense probably damaging 0.99
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
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 2015-04-16