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, CD107b, Lamp-2b, Lamp-2c, Lamp-2a, Lamp-2
Accession Numbers
Essential gene? Not available question?
Stock # IGL01511
Quality Score
Status
Chromosome X
Chromosomal Location 37490234-37545331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37520752 bp (GRCm39)
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: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign Het
Other mutations in Lamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Lamp2 APN X 37,545,186 (GRCm39) utr 5 prime probably benign
IGL00949:Lamp2 APN X 37,524,350 (GRCm39) missense probably benign 0.04
X0065:Lamp2 UTSW X 37,514,257 (GRCm39) missense probably damaging 1.00
Z1176:Lamp2 UTSW X 37,513,258 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03