|Institutional Source||Beutler Lab|
|Gene Name||leptin receptor|
|Synonyms||obl, Leprb, Obr, obese-like, OB-RGRP, Modb1, leptin receptor gene-related protein, LEPROT|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0512 (G1)|
|Chromosomal Location||101717404-101815352 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 101814704 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 975 (D975A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037385 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037552] [ENSMUST00000106921]|
|Predicted Effect||possibly damaging
AA Change: D975A
PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D975A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.08|
|Coding Region Coverage||
|Validation Efficiency||100% (92/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lepr||
(F):5'- CACCTGCCTTTCTGCAAATGTGAC -3'
(R):5'- TCCCAGGAGCTGCTAGAGAAAGAC -3'
(F):5'- GCAGAATCAGTGATATTTGGTCCTC -3'
(R):5'- GCTGCTAGAGAAAGACTGCCTC -3'