Incidental Mutation 'IGL02626:Xpnpep2'
ID 301068
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 # IGL02626
Quality Score
Status
Chromosome X
Chromosomal Location 47197602-47225858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 47215786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 513 (M513L)
Ref Sequence ENSEMBL: ENSMUSP00000110652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077775] [ENSMUST00000114998] [ENSMUST00000115000]
AlphaFold B1AVD1
Predicted Effect probably benign
Transcript: ENSMUST00000077775
AA Change: M446L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076951
Gene: ENSMUSG00000037005
AA Change: M446L

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
AA Change: M446L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110650
Gene: ENSMUSG00000037005
AA Change: M446L

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
AA Change: M513L

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110652
Gene: ENSMUSG00000037005
AA Change: M513L

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,810 (GRCm39) K1236E probably damaging Het
Actl7a A T 4: 56,744,353 (GRCm39) E293D possibly damaging Het
Adamts2 T C 11: 50,667,082 (GRCm39) Y460H probably damaging Het
Aoc1 G A 6: 48,883,044 (GRCm39) V307I probably benign Het
Ar C T X: 97,358,492 (GRCm39) H756Y probably damaging Het
Atg3 C T 16: 45,004,048 (GRCm39) R224W probably benign Het
Atp5po G A 16: 91,483,201 (GRCm39) P47S probably damaging Het
Bicd1 A G 6: 149,311,054 (GRCm39) E43G probably damaging Het
Ccdc88c A G 12: 100,934,059 (GRCm39) probably benign Het
Cd33 A G 7: 43,179,736 (GRCm39) probably benign Het
Cd36 T A 5: 18,002,126 (GRCm39) R292* probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh23 T C 10: 60,227,580 (GRCm39) D1167G probably damaging Het
Cdk5rap1 A G 2: 154,207,880 (GRCm39) probably null Het
Chd6 A G 2: 160,881,270 (GRCm39) probably benign Het
Chd7 A T 4: 8,826,519 (GRCm39) Y961F probably damaging Het
Cpe T C 8: 65,145,829 (GRCm39) E52G probably benign Het
Cpne5 C T 17: 29,379,311 (GRCm39) G491S probably damaging Het
Csmd3 A T 15: 47,567,503 (GRCm39) probably benign Het
Ctbp2 T A 7: 132,600,940 (GRCm39) T608S probably benign Het
Cybb A G X: 9,335,439 (GRCm39) probably null Het
Daam2 T C 17: 49,797,282 (GRCm39) T168A possibly damaging Het
Dnah5 G T 15: 28,307,422 (GRCm39) V1717F possibly damaging Het
Dse G A 10: 34,029,158 (GRCm39) T644I probably damaging Het
Dtd2 A C 12: 52,051,708 (GRCm39) Y45* probably null Het
Fgfr1op2 T A 6: 146,491,509 (GRCm39) M124K probably benign Het
Flii T C 11: 60,610,685 (GRCm39) D537G probably benign Het
Fntb T A 12: 76,944,145 (GRCm39) I217N probably benign Het
Foxi1 A G 11: 34,155,860 (GRCm39) S257P probably benign Het
Fyn G A 10: 39,402,798 (GRCm39) R190H probably damaging Het
Gm28557 T A 13: 67,223,008 (GRCm39) T8S probably benign Het
Gramd1b T C 9: 40,209,306 (GRCm39) K873E probably damaging Het
Grb10 T C 11: 11,895,503 (GRCm39) T329A probably benign Het
Haus5 A G 7: 30,356,675 (GRCm39) L477P probably damaging Het
Hectd4 A T 5: 121,491,944 (GRCm39) E3761V possibly damaging Het
Ift172 T C 5: 31,421,840 (GRCm39) I930V probably benign Het
Itprid1 T A 6: 55,945,631 (GRCm39) V784D probably benign Het
Izumo2 A G 7: 44,358,560 (GRCm39) probably benign Het
Map4k4 A G 1: 40,053,257 (GRCm39) probably benign Het
Morc1 A G 16: 48,436,123 (GRCm39) S753G probably damaging Het
Mpzl2 C T 9: 44,955,590 (GRCm39) T167I probably damaging Het
Mta2 T A 19: 8,926,532 (GRCm39) I491N probably damaging Het
Myo18b A T 5: 113,025,951 (GRCm39) I33N unknown Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Or10ak13 T C 4: 118,639,531 (GRCm39) M84V probably damaging Het
Or4f58 A T 2: 111,851,458 (GRCm39) V247E probably damaging Het
Or5d47 T C 2: 87,804,068 (GRCm39) N314D probably benign Het
Or8d2b T C 9: 38,788,784 (GRCm39) L104S probably benign Het
Ralyl A T 3: 13,842,094 (GRCm39) M77L probably benign Het
Rap1gap T A 4: 137,454,364 (GRCm39) V649E probably benign Het
Rnf40 C A 7: 127,195,744 (GRCm39) Q663K probably damaging Het
Slc22a18 T C 7: 143,052,837 (GRCm39) L354P probably damaging Het
Slc9a8 T C 2: 167,309,597 (GRCm39) probably benign Het
Surf4 C T 2: 26,815,619 (GRCm39) probably null Het
T A T 17: 8,654,069 (GRCm39) N85Y probably damaging Het
Tanc1 A G 2: 59,630,216 (GRCm39) E732G probably damaging Het
Tas2r138 A G 6: 40,589,649 (GRCm39) V199A possibly damaging Het
Trim43b T C 9: 88,967,541 (GRCm39) Y365C possibly damaging Het
Ubd T C 17: 37,506,573 (GRCm39) L153P probably damaging Het
Zar1l C T 5: 150,441,210 (GRCm39) G139R probably damaging Het
Zc3hav1 T G 6: 38,309,926 (GRCm39) T299P probably damaging Het
Zfp236 C A 18: 82,676,120 (GRCm39) probably benign Het
Other mutations in Xpnpep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Xpnpep2 APN X 47,220,031 (GRCm39) missense probably benign 0.37
IGL03058:Xpnpep2 APN X 47,214,302 (GRCm39) splice site probably null
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 2015-04-16