Incidental Mutation 'R1190:Lep'
ID 100729
Institutional Source Beutler Lab
Gene Symbol Lep
Ensembl Gene ENSMUSG00000059201
Gene Name leptin
Synonyms
MMRRC Submission 039262-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1190 (G1)
Quality Score 170
Status Not validated
Chromosome 6
Chromosomal Location 29060220-29073875 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 29071173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 166 (E166*)
Ref Sequence ENSEMBL: ENSMUSP00000067046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069789] [ENSMUST00000169505]
AlphaFold P41160
Predicted Effect probably null
Transcript: ENSMUST00000069789
AA Change: E166*
SMART Domains Protein: ENSMUSP00000067046
Gene: ENSMUSG00000059201
AA Change: E166*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Leptin 23 167 5.8e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169505
SMART Domains Protein: ENSMUSP00000130087
Gene: ENSMUSG00000059201

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Leptin 22 98 5.9e-50 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes are obese, hyperphagic, have low activity, high metabolic efficiency, impaired thermogenesis, infertility and short lifespan in addition to varying other abnormalities. Strain background affects severity and course of diabetes. Heterozygotes survive fasting longer than control mice. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(3) Spontaneous(2) Chemically induced(1)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl T C 14: 33,791,207 (GRCm39) F367L probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Dnah17 G A 11: 117,933,001 (GRCm39) R3586W probably damaging Het
Dpysl2 A G 14: 67,061,850 (GRCm39) V252A probably benign Het
Dus2 T C 8: 106,771,497 (GRCm39) S208P possibly damaging Het
Elk3 T C 10: 93,101,058 (GRCm39) N231S probably benign Het
Ephx1 A T 1: 180,821,494 (GRCm39) M280K probably benign Het
Fstl4 T C 11: 52,959,373 (GRCm39) M138T probably benign Het
Iqsec1 A T 6: 90,666,659 (GRCm39) Y593N probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Limch1 A G 5: 67,126,540 (GRCm39) D56G probably damaging Het
Or4d10c G T 19: 12,066,051 (GRCm39) T35K possibly damaging Het
Pkn2 A T 3: 142,517,286 (GRCm39) probably null Het
Plxna4 A G 6: 32,228,071 (GRCm39) Y512H probably damaging Het
Tekt1 A T 11: 72,246,039 (GRCm39) I161N probably damaging Het
Tex14 T G 11: 87,385,934 (GRCm39) probably null Het
Trpc3 T C 3: 36,725,497 (GRCm39) N160D probably benign Het
Zfp369 T C 13: 65,440,107 (GRCm39) S264P probably damaging Het
Zfp747 G A 7: 126,973,726 (GRCm39) A148V probably damaging Het
Other mutations in Lep
AlleleSourceChrCoordTypePredicted EffectPPH Score
potbelly UTSW 6 29,068,971 (GRCm39) nonsense probably null
potbelly2 UTSW 6 29,069,089 (GRCm39) missense possibly damaging 0.95
R0009:Lep UTSW 6 29,068,971 (GRCm39) nonsense probably null
R1545:Lep UTSW 6 29,070,831 (GRCm39) missense probably damaging 1.00
R1585:Lep UTSW 6 29,069,089 (GRCm39) missense possibly damaging 0.95
R5253:Lep UTSW 6 29,070,862 (GRCm39) missense probably damaging 1.00
R9113:Lep UTSW 6 29,071,093 (GRCm39) missense probably damaging 0.98
R9757:Lep UTSW 6 29,069,083 (GRCm39) missense probably benign 0.07
Z1176:Lep UTSW 6 29,070,969 (GRCm39) missense possibly damaging 0.50
Z1177:Lep UTSW 6 29,071,096 (GRCm39) missense probably damaging 1.00
Z1177:Lep UTSW 6 29,071,095 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGCCTTCCCAAAATGTGCTG -3'
(R):5'- GAGTCAAGCATTGTGGAGTCATGCC -3'

Sequencing Primer
(F):5'- TGCAGATAGCCAATGACCTG -3'
(R):5'- CCTTTGGATGGGTGGTCTACAG -3'
Posted On 2014-01-15