Incidental Mutation 'IGL00661:Leprot'
ID 11748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Leprot
Ensembl Gene ENSMUSG00000035212
Gene Name leptin receptor overlapping transcript
Synonyms Obrgrp, OB-RGRP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.017) question?
Stock # IGL00661
Quality Score
Status
Chromosome 4
Chromosomal Location 101504922-101516561 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 101509673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030254] [ENSMUST00000030254] [ENSMUST00000106927]
AlphaFold O89013
Predicted Effect probably null
Transcript: ENSMUST00000030254
SMART Domains Protein: ENSMUSP00000030254
Gene: ENSMUSG00000035212

DomainStartEndE-ValueType
Pfam:Vps55 7 124 7.9e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030254
SMART Domains Protein: ENSMUSP00000030254
Gene: ENSMUSG00000035212

DomainStartEndE-ValueType
Pfam:Vps55 7 124 7.9e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106927
SMART Domains Protein: ENSMUSP00000102540
Gene: ENSMUSG00000035212

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Vps55 31 103 2.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Leprot
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1530:Leprot UTSW 4 101,513,484 (GRCm39) missense probably benign 0.00
R2178:Leprot UTSW 4 101,513,308 (GRCm39) missense probably benign 0.00
R3162:Leprot UTSW 4 101,515,090 (GRCm39) missense probably damaging 1.00
R3162:Leprot UTSW 4 101,515,090 (GRCm39) missense probably damaging 1.00
R5496:Leprot UTSW 4 101,515,093 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06