Incidental Mutation 'IGL01511:Lamp2'
ID 89235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lamp2
Ensembl Gene ENSMUSG00000016534
Gene Name lysosomal-associated membrane protein 2
Synonyms Mac3, Lamp-2a, Lamp-2b, CD107b, Lamp-2c, Lamp-2
Accession Numbers
Is this an essential gene? Not available question?
Stock # IGL01511
Quality Score
Status
Chromosome X
Chromosomal Location 38401357-38456454 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38431875 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 244 (L244P)
Ref Sequence ENSEMBL: ENSMUSP00000074448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016678] [ENSMUST00000061755] [ENSMUST00000074913]
AlphaFold P17047
Predicted Effect probably damaging
Transcript: ENSMUST00000016678
AA Change: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016678
Gene: ENSMUSG00000016534
AA Change: L244P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 1.1e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000061755
AA Change: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052283
Gene: ENSMUSG00000016534
AA Change: L244P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 3.6e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074913
AA Change: L244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074448
Gene: ENSMUSG00000016534
AA Change: L244P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 106 416 4.4e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136817
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: The majority of hemizygous or homozygous mutant mice die prematurely displaying cardiomyopathy and accumulation of autophagic vacuoles in several tissues including liver, pancreas, spleen, kidney and skeletal and cardiac muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign Het
Other mutations in Lamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Lamp2 APN X 38456309 utr 5 prime probably benign
IGL00949:Lamp2 APN X 38435473 missense probably benign 0.04
X0065:Lamp2 UTSW X 38425380 missense probably damaging 1.00
Z1176:Lamp2 UTSW X 38424381 missense probably damaging 1.00
Posted On 2013-12-03