Incidental Mutation 'R2178:Leprot'
ID 236987
Institutional Source Beutler Lab
Gene Symbol Leprot
Ensembl Gene ENSMUSG00000035212
Gene Name leptin receptor overlapping transcript
Synonyms Obrgrp, OB-RGRP
MMRRC Submission 040180-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.017) question?
Stock # R2178 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 101504922-101516561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101513308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000030254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030254] [ENSMUST00000106927]
AlphaFold O89013
Predicted Effect probably benign
Transcript: ENSMUST00000030254
AA Change: V32A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030254
Gene: ENSMUSG00000035212
AA Change: V32A

DomainStartEndE-ValueType
Pfam:Vps55 7 124 7.9e-43 PFAM
Predicted Effect probably benign
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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 A T 15: 98,492,236 (GRCm39) N1007K probably damaging Het
Apon C A 10: 128,090,634 (GRCm39) A104E probably benign Het
Cdh15 T A 8: 123,591,715 (GRCm39) probably null Het
Cep135 T C 5: 76,779,297 (GRCm39) V769A probably benign Het
Cep152 A T 2: 125,421,954 (GRCm39) probably null Het
Clca3a1 T C 3: 144,711,863 (GRCm39) N711D probably damaging Het
Col1a2 T C 6: 4,531,143 (GRCm39) F731L unknown Het
Cpt1b T C 15: 89,303,246 (GRCm39) E603G probably damaging Het
Cspp1 T G 1: 10,174,471 (GRCm39) D641E possibly damaging Het
Ddr2 C T 1: 169,822,251 (GRCm39) R399Q probably benign Het
Dzip1 T C 14: 119,126,816 (GRCm39) probably null Het
Greb1 A G 12: 16,746,388 (GRCm39) V1294A probably damaging Het
Hmgb4 A G 4: 128,154,275 (GRCm39) S98P probably damaging Het
Kif12 G A 4: 63,085,196 (GRCm39) P515L probably benign Het
Kmt5b A C 19: 3,865,372 (GRCm39) E789A possibly damaging Het
Lama1 G T 17: 68,076,510 (GRCm39) V1095F probably benign Het
Mcoln1 A G 8: 3,558,766 (GRCm39) T255A probably damaging Het
Mertk G A 2: 128,634,984 (GRCm39) E765K probably damaging Het
Muc5b A G 7: 141,417,853 (GRCm39) T3600A possibly damaging Het
Ncapd3 A T 9: 26,999,845 (GRCm39) E1395V probably benign Het
Ntrk2 T C 13: 58,956,616 (GRCm39) F25S probably benign Het
Or2a5 A G 6: 42,873,732 (GRCm39) M116V probably benign Het
Or6z1 G T 7: 6,504,487 (GRCm39) A246D probably damaging Het
Or7c70 T A 10: 78,683,612 (GRCm39) I46F probably damaging Het
Pappa C A 4: 65,269,924 (GRCm39) H1613N probably benign Het
Polq T C 16: 36,883,191 (GRCm39) V1785A probably damaging Het
Pramel23 A T 4: 143,424,612 (GRCm39) I277K possibly damaging Het
Prkar2a T C 9: 108,617,737 (GRCm39) probably null Het
Qrich2 T C 11: 116,334,603 (GRCm39) D2194G probably damaging Het
Rnf183 T C 4: 62,346,333 (GRCm39) N155S probably benign Het
S1pr5 T C 9: 21,155,760 (GRCm39) N222S probably benign Het
Scnn1a C T 6: 125,307,965 (GRCm39) R170C probably damaging Het
Slc25a2 T C 18: 37,771,311 (GRCm39) T73A probably benign Het
Tgfb1 A G 7: 25,404,234 (GRCm39) N347S probably damaging Het
Ticrr T C 7: 79,315,433 (GRCm39) V229A probably benign Het
Tjp3 T C 10: 81,115,941 (GRCm39) E313G probably benign Het
Tnfsf11 A G 14: 78,521,682 (GRCm39) S176P probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps39 C A 2: 120,154,160 (GRCm39) E612* probably null Het
Vwf T A 6: 125,619,095 (GRCm39) Y1258N possibly damaging Het
Other mutations in Leprot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Leprot APN 4 101,509,673 (GRCm39) critical splice donor site probably null
R1530:Leprot UTSW 4 101,513,484 (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
Predicted Primers PCR Primer
(F):5'- TTAGAGTTGCTCATCAGGGCC -3'
(R):5'- GGCCCTTGAAACAAACCCTG -3'

Sequencing Primer
(F):5'- TCAACAGTAGAGTGCTTGCC -3'
(R):5'- TTGAAACAAACCCTGACCAGAG -3'
Posted On 2014-10-02