Incidental Mutation 'IGL00949:Lamp2'
ID 29591
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 # IGL00949
Quality Score
Status
Chromosome X
Chromosomal Location 37490234-37545331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37524350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 156 (N156S)
Ref Sequence ENSEMBL: ENSMUSP00000074448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016678] [ENSMUST00000061755] [ENSMUST00000074913]
AlphaFold P17047
Predicted Effect probably benign
Transcript: ENSMUST00000016678
AA Change: N156S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000016678
Gene: ENSMUSG00000016534
AA Change: N156S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 1.1e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061755
AA Change: N156S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000052283
Gene: ENSMUSG00000016534
AA Change: N156S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Lamp 105 415 3.6e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074913
AA Change: N156S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000074448
Gene: ENSMUSG00000016534
AA Change: N156S

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 141,126,325 (GRCm39) C303R probably damaging Het
Als2 C T 1: 59,254,731 (GRCm39) G209S probably damaging Het
Ankrd11 T C 8: 123,635,467 (GRCm39) T56A possibly damaging Het
Arnt T A 3: 95,394,579 (GRCm39) I381N probably damaging Het
Atp13a1 T C 8: 70,252,653 (GRCm39) probably benign Het
Cd180 A T 13: 102,830,268 (GRCm39) T21S possibly damaging Het
Cdc27 T C 11: 104,420,229 (GRCm39) Y138C probably damaging Het
Dhx16 A G 17: 36,198,826 (GRCm39) T753A probably benign Het
Dnah1 A G 14: 31,029,047 (GRCm39) M561T probably benign Het
Dsc3 C A 18: 20,118,688 (GRCm39) G259C probably null Het
Enox2 A T X: 48,129,484 (GRCm39) D346E probably benign Het
Exoc3l T C 8: 106,017,130 (GRCm39) E619G probably benign Het
Exosc9 T C 3: 36,617,415 (GRCm39) probably benign Het
Gmpr2 C T 14: 55,914,207 (GRCm39) probably benign Het
Golga1 T C 2: 38,931,267 (GRCm39) E289G probably damaging Het
H3c1 G A 13: 23,946,014 (GRCm39) T108I probably damaging Het
Jmy A G 13: 93,590,510 (GRCm39) V531A probably damaging Het
Lrrn1 C A 6: 107,546,261 (GRCm39) N686K probably benign Het
Lyst T C 13: 13,810,070 (GRCm39) V580A possibly damaging Het
Ms4a8a C A 19: 11,056,808 (GRCm39) L91F probably benign Het
Naip2 A G 13: 100,298,099 (GRCm39) F646L probably damaging Het
Npat T C 9: 53,474,662 (GRCm39) V818A probably benign Het
Or2w4 A T 13: 21,795,521 (GRCm39) I206N probably damaging Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Pid1 A G 1: 84,016,227 (GRCm39) V46A probably damaging Het
Pld5 A T 1: 175,803,039 (GRCm39) C409S probably damaging Het
Plet1 A G 9: 50,410,523 (GRCm39) T105A possibly damaging Het
Polrmt T C 10: 79,573,431 (GRCm39) probably null Het
Pp2d1 T C 17: 53,822,667 (GRCm39) N133S probably benign Het
Prpf40b G T 15: 99,204,419 (GRCm39) V228L probably benign Het
Ptgfrn A T 3: 100,980,161 (GRCm39) M393K probably benign Het
Slc9a1 C T 4: 133,143,762 (GRCm39) T416I probably benign Het
Slc9c1 T C 16: 45,413,721 (GRCm39) S950P probably benign Het
Slitrk1 A T 14: 109,149,241 (GRCm39) V490D probably damaging Het
Th T C 7: 142,450,763 (GRCm39) Y131C probably benign Het
Tlr6 A G 5: 65,110,855 (GRCm39) L684P probably damaging Het
Tpm3 A G 3: 89,997,165 (GRCm39) E234G probably damaging Het
Tti1 A G 2: 157,824,319 (GRCm39) Y1045H probably benign Het
Txnl4b T A 8: 110,295,707 (GRCm39) V37D probably benign Het
Ufl1 A T 4: 25,275,822 (GRCm39) F194I probably damaging Het
Usp13 G A 3: 32,940,726 (GRCm39) E412K possibly damaging Het
Usp46 A T 5: 74,163,903 (GRCm39) L251Q possibly damaging Het
Other mutations in Lamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Lamp2 APN X 37,545,186 (GRCm39) utr 5 prime probably benign
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