Incidental Mutation 'IGL01765:Or1e21'
ID 153292
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 # IGL01765
Quality Score
Status
Chromosome 11
Chromosomal Location 73344101-73345036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73344303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 245 (L245R)
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: L245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074971
Gene: ENSMUSG00000072709
AA Change: L245R

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: L245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112462
Gene: ENSMUSG00000072709
AA Change: L245R

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: L245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: L245R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,030,426 (GRCm39) M11K probably benign Het
Agap2 T C 10: 126,919,104 (GRCm39) V442A unknown Het
Cdh20 C T 1: 109,988,836 (GRCm39) T246I probably damaging Het
Creb3l1 T C 2: 91,854,446 (GRCm39) D2G possibly damaging Het
Dicer1 G A 12: 104,672,999 (GRCm39) R811C probably damaging Het
Drosha C A 15: 12,902,766 (GRCm39) A1012E probably damaging Het
Eftud2 A G 11: 102,730,082 (GRCm39) I896T probably damaging Het
Fastkd5 T C 2: 130,457,654 (GRCm39) Y312C possibly damaging Het
Flt3 A G 5: 147,294,788 (GRCm39) F428L probably benign Het
Hrh4 G A 18: 13,140,252 (GRCm39) R49Q probably damaging Het
Lrp6 T C 6: 134,433,108 (GRCm39) T1408A probably damaging Het
Lsg1 T C 16: 30,400,913 (GRCm39) E132G probably damaging Het
Ltf T C 9: 110,851,085 (GRCm39) V99A possibly damaging Het
Mettl13 A T 1: 162,366,522 (GRCm39) D452E probably benign Het
Ndufa7 G T 17: 34,048,786 (GRCm39) E83* probably null Het
Nmrk1 C T 19: 18,616,902 (GRCm39) T17M probably damaging Het
Ntsr1 A G 2: 180,180,510 (GRCm39) E272G possibly damaging Het
Obscn T C 11: 59,006,610 (GRCm39) K1184R possibly damaging Het
Or10z1 T G 1: 174,077,703 (GRCm39) K263N probably damaging Het
Or11j4 A T 14: 50,630,291 (GRCm39) Q26L probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or4a68 C T 2: 89,270,144 (GRCm39) V160I probably benign Het
Or7e170 A T 9: 19,795,247 (GRCm39) M118K possibly damaging Het
Pcdhb10 A G 18: 37,547,072 (GRCm39) K716R probably benign Het
Phldb3 A G 7: 24,316,800 (GRCm39) D267G possibly damaging Het
Plcb2 T A 2: 118,540,749 (GRCm39) probably benign Het
Pramel17 T C 4: 101,695,049 (GRCm39) I87M probably benign Het
Pusl1 A G 4: 155,974,170 (GRCm39) F219L probably damaging Het
Rbbp6 T C 7: 122,599,177 (GRCm39) probably benign Het
Rev3l T A 10: 39,704,261 (GRCm39) D228E probably benign Het
Rnf213 A T 11: 119,327,178 (GRCm39) M1723L probably benign Het
Sc5d A G 9: 42,167,464 (GRCm39) F128S probably damaging Het
Sco1 T C 11: 66,944,616 (GRCm39) S80P probably damaging Het
Supt16 C T 14: 52,417,680 (GRCm39) R278H probably damaging Het
Supt6 A G 11: 78,112,985 (GRCm39) I986T probably benign Het
Trio A G 15: 27,764,112 (GRCm39) V860A possibly damaging Het
Uck1 A G 2: 32,148,688 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,788 (GRCm39) T823A probably benign Het
Other mutations in Or1e21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:Or1e21 APN 11 73,344,106 (GRCm39) missense probably benign 0.19
IGL02898:Or1e21 APN 11 73,344,561 (GRCm39) missense probably damaging 1.00
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 2014-02-04