Incidental Mutation 'IGL03190:Xpnpep2'
ID 412636
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 # IGL03190
Quality Score
Status
Chromosome X
Chromosomal Location 47197602-47225858 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 47207205 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 benign
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 benign
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 benign
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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,016,510 (GRCm39) C314S probably damaging Het
Agr2 T A 12: 36,048,634 (GRCm39) I128N probably damaging Het
Akr1c6 T C 13: 4,496,412 (GRCm39) I91T possibly damaging Het
Ankrd45 A G 1: 160,990,909 (GRCm39) I221V probably benign Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Atp13a3 A T 16: 30,141,766 (GRCm39) M1129K probably benign Het
Atp6v0a4 T A 6: 38,031,491 (GRCm39) Q670L probably benign Het
Bank1 T C 3: 135,806,185 (GRCm39) Y483C probably damaging Het
Bcan A T 3: 87,900,357 (GRCm39) probably benign Het
Bcl11a G A 11: 24,108,333 (GRCm39) E104K probably benign Het
Clasp2 C T 9: 113,673,208 (GRCm39) Q368* probably null Het
Clcn1 T A 6: 42,267,037 (GRCm39) Y71N probably benign Het
Cul2 C T 18: 3,429,634 (GRCm39) T498I possibly damaging Het
Fat4 A G 3: 39,035,390 (GRCm39) D3014G probably damaging Het
Flnc T C 6: 29,445,636 (GRCm39) probably benign Het
Il36g C A 2: 24,077,272 (GRCm39) S28* probably null Het
Itgb3bp A G 4: 99,677,923 (GRCm39) probably benign Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Klk1b26 T C 7: 43,662,151 (GRCm39) F3S possibly damaging Het
Lin52 T C 12: 84,504,732 (GRCm39) V39A probably damaging Het
Magt1 A C X: 105,032,622 (GRCm39) N242K probably benign Het
Nos3 A G 5: 24,588,627 (GRCm39) M1118V probably damaging Het
Or1j13 A T 2: 36,369,734 (GRCm39) M136K probably damaging Het
Or6k2 T C 1: 173,987,110 (GRCm39) V257A probably damaging Het
Paqr5 A C 9: 61,880,084 (GRCm39) L56R probably damaging Het
Pcdhb16 T C 18: 37,612,396 (GRCm39) F452S probably damaging Het
Prdm5 T A 6: 65,833,116 (GRCm39) probably benign Het
Rps6ka5 A G 12: 100,524,907 (GRCm39) probably benign Het
Slc22a5 A G 11: 53,765,840 (GRCm39) F249L probably benign Het
Spata31f1a C A 4: 42,848,362 (GRCm39) G1265C probably benign Het
Ttll2 T C 17: 7,618,779 (GRCm39) K383E probably benign Het
Ube2o G A 11: 116,435,954 (GRCm39) P353L probably damaging Het
Vmn1r63 T C 7: 5,806,110 (GRCm39) D174G probably benign Het
Vmn2r82 A G 10: 79,192,643 (GRCm39) probably null Het
Zfp352 T A 4: 90,111,994 (GRCm39) S45T possibly damaging Het
Zfp811 A G 17: 33,017,855 (GRCm39) probably benign Het
Zfyve19 G A 2: 119,046,717 (GRCm39) A304T probably damaging 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
IGL03058:Xpnpep2 APN X 47,214,302 (GRCm39) splice site probably null
R1829:Xpnpep2 UTSW X 47,214,230 (GRCm39) missense probably benign 0.31
Posted On 2016-08-02