Incidental Mutation 'R8323:Or1e30'
ID 643932
Institutional Source Beutler Lab
Gene Symbol Or1e30
Ensembl Gene ENSMUSG00000069818
Gene Name olfactory receptor family 1 subfamily E member 30
Synonyms Olfr390, MOR135-26, GA_x6K02T2P1NL-3938806-3939741
MMRRC Submission 067724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 73677766-73678701 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 73677766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000113472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
AlphaFold Q8VEZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000092919
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: M1L

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 damaging
Transcript: ENSMUST00000120081
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215161
AA Change: M1L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,351 (GRCm39) F6S probably benign Het
Braf T C 6: 39,620,058 (GRCm39) T507A possibly damaging Het
Catsperb A C 12: 101,375,658 (GRCm39) H24P probably benign Het
Ccdc57 G T 11: 120,788,750 (GRCm39) Q366K possibly damaging Het
Cep295 G T 9: 15,249,529 (GRCm39) T462K possibly damaging Het
Cep295 T A 9: 15,264,357 (GRCm39) R96S probably damaging Het
Cfap206 C T 4: 34,719,647 (GRCm39) E256K probably benign Het
Cfap251 A G 5: 123,435,588 (GRCm39) N1016S probably benign Het
Cldn13 A G 5: 134,943,828 (GRCm39) V119A probably benign Het
Csmd1 G T 8: 17,266,751 (GRCm39) C58* probably null Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Dcbld2 T A 16: 58,283,473 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,109 (GRCm39) I2299V probably benign Het
Dsp C T 13: 38,356,806 (GRCm39) H229Y possibly damaging Het
Fam193b A T 13: 55,702,223 (GRCm39) C51* probably null Het
Fbxw10 G A 11: 62,767,506 (GRCm39) V781I probably benign Het
Fdps G T 3: 89,002,696 (GRCm39) P151T possibly damaging Het
Galk2 C T 2: 125,708,298 (GRCm39) H16Y probably benign Het
Gm1110 A G 9: 26,813,719 (GRCm39) probably null Het
Gm3727 C T 14: 7,261,693 (GRCm38) V204I probably benign Het
Gtf2h3 A G 5: 124,720,534 (GRCm39) I13V probably benign Het
H2-T24 T A 17: 36,328,431 (GRCm39) probably null Het
Heatr5a C T 12: 52,002,289 (GRCm39) V216M probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Igfbp2 C T 1: 72,888,780 (GRCm39) P224S probably damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Kif11 T A 19: 37,372,692 (GRCm39) F27I possibly damaging Het
Lcor T C 19: 41,572,036 (GRCm39) S264P probably benign Het
Lrrc28 G T 7: 67,245,455 (GRCm39) T137K unknown Het
Lyg1 T A 1: 37,989,018 (GRCm39) R67S probably damaging Het
Ms4a10 G A 19: 10,940,363 (GRCm39) Q255* probably null Het
Myo1h A G 5: 114,480,200 (GRCm39) R512G Het
Nmnat3 T C 9: 98,292,276 (GRCm39) Y174H probably damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Nsf C A 11: 103,819,665 (GRCm39) V35L probably benign Het
Or2w6 T A 13: 21,843,302 (GRCm39) M64L possibly damaging Het
Osbpl9 A G 4: 108,965,119 (GRCm39) S116P probably benign Het
Pcdhb15 A C 18: 37,608,715 (GRCm39) E649A probably benign Het
Pcdhb8 T A 18: 37,488,476 (GRCm39) D51E probably benign Het
Plcl1 T A 1: 55,736,895 (GRCm39) D745E possibly damaging Het
Prss3 A G 6: 41,351,258 (GRCm39) L165P probably damaging Het
Psme4 T A 11: 30,793,532 (GRCm39) I1211N probably damaging Het
Rb1 A G 14: 73,503,023 (GRCm39) V416A probably benign Het
Rnf111 T A 9: 70,383,204 (GRCm39) Q243L probably benign Het
Sacm1l T C 9: 123,377,987 (GRCm39) V89A probably benign Het
Sardh C T 2: 27,125,576 (GRCm39) D313N probably damaging Het
Scin T C 12: 40,129,681 (GRCm39) I371V probably benign Het
Scn10a C A 9: 119,438,462 (GRCm39) L1801F possibly damaging Het
Sele G A 1: 163,879,207 (GRCm39) V281M possibly damaging Het
Slc17a1 C A 13: 24,071,982 (GRCm39) T400K probably damaging Het
Slc22a28 T A 19: 8,108,788 (GRCm39) D118V probably damaging Het
Slc2a10 T A 2: 165,356,671 (GRCm39) F110L probably benign Het
Slc51a A G 16: 32,295,197 (GRCm39) S294P probably damaging Het
Snapc4 T C 2: 26,254,711 (GRCm39) E1271G probably benign Het
Spata31 C A 13: 65,070,065 (GRCm39) Q738K possibly damaging Het
Spdya A G 17: 71,895,587 (GRCm39) D284G probably benign Het
Tdrd5 T C 1: 156,094,832 (GRCm39) D757G possibly damaging Het
Tmem104 T C 11: 115,134,199 (GRCm39) F245S probably damaging Het
Tmem170 A T 8: 112,603,153 (GRCm39) S39T probably benign Het
Trim24 G T 6: 37,892,233 (GRCm39) probably null Het
Uap1 A G 1: 169,978,635 (GRCm39) V302A probably damaging Het
Vmn2r96 A T 17: 18,803,023 (GRCm39) Y311F probably damaging Het
Wdhd1 A T 14: 47,512,252 (GRCm39) D46E possibly damaging Het
Zdbf2 G A 1: 63,342,073 (GRCm39) V151I possibly damaging Het
Zfp747l1 A T 7: 126,983,621 (GRCm39) C494S possibly damaging Het
Zfp943 A G 17: 22,211,763 (GRCm39) Q283R possibly damaging Het
Zfp944 A T 17: 22,558,235 (GRCm39) D337E probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CATAAAAGGCGGAATAATGAAACATT -3'
(R):5'- GCAGCAACTTGGGCATAGTG -3'

Sequencing Primer
(F):5'- AGGCGGAATAATGAAACATTAAAAAG -3'
(R):5'- CAACTTGGGCATAGTGACAGAG -3'
Posted On 2020-09-02