Incidental Mutation 'IGL03058:Xpnpep2'
ID 409351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpnpep2
Ensembl Gene ENSMUSG00000037005
Gene Name X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound
Synonyms 9030008G12Rik, mAPP
Accession Numbers
Essential gene? Not available question?
Stock # IGL03058
Quality Score
Status
Chromosome X
Chromosomal Location 47197602-47225858 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 47214302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077775] [ENSMUST00000114998] [ENSMUST00000115000]
AlphaFold B1AVD1
Predicted Effect probably null
Transcript: ENSMUST00000077775
SMART Domains Protein: ENSMUSP00000076951
Gene: ENSMUSG00000037005

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Creatinase_N 53 190 1.5e-22 PFAM
Pfam:Peptidase_M24 362 576 2.9e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114998
SMART Domains Protein: ENSMUSP00000110650
Gene: ENSMUSG00000037005

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Creatinase_N 53 190 3.9e-23 PFAM
Pfam:Peptidase_M24 361 576 3.6e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115000
SMART Domains Protein: ENSMUSP00000110652
Gene: ENSMUSG00000037005

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Creatinase_N 53 190 3e-18 PFAM
Pfam:Creatinase_N_2 195 254 1e-11 PFAM
Pfam:Creatinase_N_2 314 428 8.1e-25 PFAM
Pfam:Peptidase_M24 429 643 4.9e-40 PFAM
Pfam:Peptidase_M24_C 651 715 1.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156654
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Cdc40 T C 10: 40,725,824 (GRCm39) E215G probably benign Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Crhbp T A 13: 95,580,306 (GRCm39) E91V probably damaging Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Htatsf1 T A X: 56,104,281 (GRCm39) D203E probably damaging Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or13c7d A C 4: 43,770,255 (GRCm39) F252C probably damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Pdk3 A T X: 92,845,892 (GRCm39) I143N probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Xpnpep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Xpnpep2 APN X 47,220,031 (GRCm39) missense probably benign 0.37
IGL02626:Xpnpep2 APN X 47,215,786 (GRCm39) missense probably benign 0.44
IGL03190:Xpnpep2 APN X 47,207,205 (GRCm39) splice site probably benign
R1829:Xpnpep2 UTSW X 47,214,230 (GRCm39) missense probably benign 0.31
Posted On 2016-08-02