Incidental Mutation 'R3913:Or1e30'
ID 309519
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 040911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73677766-73678701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73678522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 253 (G253W)
Ref Sequence ENSEMBL: ENSMUSP00000148992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]
AlphaFold Q8VEZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000092919
AA Change: G253W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: G253W

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: G253W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: G253W

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 damaging
Transcript: ENSMUST00000215161
AA Change: G253W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GAAGCTGGCCTGCTCTGATATTC -3'
(R):5'- GAAAGGTGGTTATCATCATCATAGGAG -3'

Sequencing Primer
(F):5'- GGCCTGCTCTGATATTCACATTAATG -3'
(R):5'- ATTGGAGTCACCACTGTG -3'
Posted On 2015-04-17