Incidental Mutation 'IGL00517:Lamp2'
ID 29563
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 # IGL00517
Quality Score
Status
Chromosome X
Chromosomal Location 37490234-37545331 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 37545186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016678] [ENSMUST00000061755] [ENSMUST00000074913]
AlphaFold P17047
Predicted Effect probably benign
Transcript: ENSMUST00000016678
SMART Domains Protein: ENSMUSP00000016678
Gene: ENSMUSG00000016534

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 1.1e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061755
SMART Domains Protein: ENSMUSP00000052283
Gene: ENSMUSG00000016534

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 3.6e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074913
SMART Domains Protein: ENSMUSP00000074448
Gene: ENSMUSG00000016534

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 106 416 4.4e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144663
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C T 7: 101,037,256 (GRCm39) R180W probably damaging Het
Atg4a T A X: 139,945,488 (GRCm39) M345K probably damaging Het
Cacna1s T C 1: 136,015,077 (GRCm39) V408A probably damaging Het
Ccdc141 C T 2: 76,884,988 (GRCm39) G551D probably damaging Het
Cdh2 A C 18: 16,760,693 (GRCm39) V558G possibly damaging Het
Col9a1 T A 1: 24,234,615 (GRCm39) probably benign Het
Fbxo15 T A 18: 84,977,225 (GRCm39) F46I probably damaging Het
Gdpd4 T C 7: 97,653,478 (GRCm39) I497T probably damaging Het
Gtf2f2 A G 14: 76,232,941 (GRCm39) V75A probably benign Het
Hpse T C 5: 100,839,196 (GRCm39) H384R possibly damaging Het
Lama2 T A 10: 27,073,326 (GRCm39) T1044S probably benign Het
Lipe C A 7: 25,087,985 (GRCm39) probably null Het
Marf1 T C 16: 13,933,606 (GRCm39) E1594G possibly damaging Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Patj G T 4: 98,329,308 (GRCm39) V521F possibly damaging Het
Prkg1 A T 19: 30,872,068 (GRCm39) D242E probably benign Het
Qsox2 T C 2: 26,112,267 (GRCm39) I92V probably benign Het
Rasgrf1 T C 9: 89,852,534 (GRCm39) Y367H probably damaging Het
Rpl21-ps4 T C 14: 11,227,544 (GRCm38) noncoding transcript Het
Sigirr T C 7: 140,672,147 (GRCm39) E266G probably benign Het
Slitrk6 T C 14: 110,988,547 (GRCm39) T387A probably benign Het
Smim22 T C 16: 4,825,860 (GRCm39) L54P probably damaging Het
Taf4 G A 2: 179,566,206 (GRCm39) probably benign Het
Trappc14 A G 5: 138,259,967 (GRCm39) V363A possibly damaging Het
Zswim3 T C 2: 164,663,011 (GRCm39) L497S probably damaging Het
Other mutations in Lamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Lamp2 APN X 37,524,350 (GRCm39) missense probably benign 0.04
IGL01511:Lamp2 APN X 37,520,752 (GRCm39) missense probably damaging 1.00
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 2013-04-17