Incidental Mutation 'IGL02898:Or1e21'
ID 363464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1e21
Ensembl Gene ENSMUSG00000072709
Gene Name olfactory receptor family 1 subfamily E member 21
Synonyms MOR135-1, GA_x6K02T2P1NL-3613021-3612086, Olfr380
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02898
Quality Score
Status
Chromosome 11
Chromosomal Location 73344101-73345036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73344561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 159 (H159L)
Ref Sequence ENSEMBL: ENSMUSP00000116228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075532] [ENSMUST00000121209] [ENSMUST00000127789]
AlphaFold Q8VGT3
Predicted Effect probably damaging
Transcript: ENSMUST00000075532
AA Change: H159L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074971
Gene: ENSMUSG00000072709
AA Change: H159L

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:7tm_1 41 290 2e-35 PFAM
Pfam:7tm_4 139 283 7.9e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121209
AA Change: H159L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112462
Gene: ENSMUSG00000072709
AA Change: H159L

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:7tm_4 31 308 6.7e-56 PFAM
Pfam:7tm_1 41 290 6.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127789
AA Change: H159L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: H159L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 231 7.3e-8 PFAM
Pfam:7tm_1 44 240 2.5e-33 PFAM
Pfam:7tm_4 142 249 4.5e-35 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,178,065 (GRCm39) probably benign Het
Brd3 A G 2: 27,349,753 (GRCm39) S267P possibly damaging Het
Btaf1 A G 19: 36,946,468 (GRCm39) T425A probably benign Het
Caskin1 A T 17: 24,721,383 (GRCm39) E544D probably benign Het
Col20a1 C T 2: 180,630,905 (GRCm39) Q58* probably null Het
Eif2ak1 G A 5: 143,826,270 (GRCm39) V428I probably damaging Het
Fez2 A G 17: 78,692,184 (GRCm39) I345T probably benign Het
Focad A T 4: 88,310,234 (GRCm39) M1388L probably benign Het
Gfer T C 17: 24,914,921 (GRCm39) R41G probably benign Het
Gm9956 C T 10: 56,621,350 (GRCm39) S4L unknown Het
Krtap6-1 G A 16: 88,828,643 (GRCm39) G13D unknown Het
Megf8 A G 7: 25,045,933 (GRCm39) E1492G possibly damaging Het
Myh7 T C 14: 55,221,197 (GRCm39) I909V probably damaging Het
Or11g25 T A 14: 50,723,643 (GRCm39) S243T probably damaging Het
Otog A G 7: 45,959,562 (GRCm39) E717G probably damaging Het
Pik3r4 A G 9: 105,527,605 (GRCm39) I319M probably benign Het
Piwil4 A T 9: 14,617,583 (GRCm39) probably benign Het
Plekho1 T A 3: 95,899,493 (GRCm39) H100L probably damaging Het
Prr30 T G 14: 101,435,917 (GRCm39) D215A probably benign Het
Prss52 C T 14: 64,351,115 (GRCm39) A300V possibly damaging Het
Ralgps2 C A 1: 156,645,314 (GRCm39) K514N probably benign Het
Robo4 T C 9: 37,319,472 (GRCm39) I463T probably damaging Het
Sars1 A T 3: 108,336,579 (GRCm39) F268Y probably damaging Het
Sidt1 C T 16: 44,102,858 (GRCm39) R289Q possibly damaging Het
Slco1a8 T A 6: 141,940,023 (GRCm39) Y140F probably benign Het
Slco2a1 T C 9: 102,956,805 (GRCm39) V539A probably damaging Het
Snrnp200 A G 2: 127,058,676 (GRCm39) probably benign Het
Spag17 A G 3: 100,008,702 (GRCm39) D1944G probably benign Het
Spata1 C T 3: 146,181,094 (GRCm39) R288Q possibly damaging Het
Tatdn3 T C 1: 190,778,507 (GRCm39) *233W probably null Het
Ttc3 T A 16: 94,220,285 (GRCm39) V536E probably damaging Het
V1rd19 A C 7: 23,702,854 (GRCm39) T107P probably damaging Het
Other mutations in Or1e21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Or1e21 APN 11 73,344,303 (GRCm39) missense probably damaging 1.00
IGL02388:Or1e21 APN 11 73,344,106 (GRCm39) missense probably benign 0.19
R0356:Or1e21 UTSW 11 73,344,906 (GRCm39) missense possibly damaging 0.93
R1447:Or1e21 UTSW 11 73,344,700 (GRCm39) missense probably benign 0.39
R1912:Or1e21 UTSW 11 73,344,820 (GRCm39) missense probably damaging 0.98
R4299:Or1e21 UTSW 11 73,344,827 (GRCm39) missense probably damaging 0.97
R4362:Or1e21 UTSW 11 73,344,391 (GRCm39) missense probably benign
R5686:Or1e21 UTSW 11 73,344,677 (GRCm39) nonsense probably null
R7049:Or1e21 UTSW 11 73,344,430 (GRCm39) missense probably damaging 1.00
R7751:Or1e21 UTSW 11 73,344,372 (GRCm39) missense possibly damaging 0.89
R8558:Or1e21 UTSW 11 73,344,309 (GRCm39) missense probably damaging 1.00
R8736:Or1e21 UTSW 11 73,344,384 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18