Incidental Mutation 'IGL01833:Xpnpep1'
ID 154846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpnpep1
Ensembl Gene ENSMUSG00000025027
Gene Name X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
Synonyms D230045I08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01833
Quality Score
Status
Chromosome 19
Chromosomal Location 52943417-53040214 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53000393 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 463 (Y463H)
Ref Sequence ENSEMBL: ENSMUSP00000138233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182500] [ENSMUST00000183108] [ENSMUST00000183274]
AlphaFold Q6P1B1
Predicted Effect probably damaging
Transcript: ENSMUST00000069988
AA Change: Y420H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: Y420H

DomainStartEndE-ValueType
Pfam:Creatinase_N 10 154 5.2e-15 PFAM
Pfam:Creatinase_N_2 157 326 1.4e-47 PFAM
Pfam:Peptidase_M24 328 544 7.2e-52 PFAM
Pfam:Peptidase_M24_C 555 619 7.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182877
Predicted Effect probably damaging
Transcript: ENSMUST00000183108
AA Change: Y463H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: Y463H

DomainStartEndE-ValueType
Pfam:Creatinase_N 53 198 1.2e-17 PFAM
Pfam:Peptidase_M24 371 587 5.5e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183274
AA Change: Y463H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: Y463H

DomainStartEndE-ValueType
Pfam:Creatinase_N 53 198 1.2e-17 PFAM
Pfam:Peptidase_M24 371 587 1.9e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A G 17: 56,881,062 N190S probably benign Het
Adamts18 T A 8: 113,743,096 Y658F probably benign Het
Camsap3 T A 8: 3,608,508 L1151Q probably damaging Het
Casp14 T A 10: 78,715,403 Y16F probably damaging Het
Clip2 A T 5: 134,498,084 probably benign Het
Clip4 G A 17: 71,827,790 probably benign Het
Cyb5r4 G A 9: 87,059,452 probably null Het
Ep400 A T 5: 110,680,008 N2329K unknown Het
Fam163a T A 1: 156,079,996 I17F probably damaging Het
Fam213b G T 4: 154,896,602 probably benign Het
Galnt1 T A 18: 24,267,560 I241N probably damaging Het
Galnt14 T G 17: 73,504,904 I441L probably benign Het
Gpr45 T C 1: 43,032,242 L15P probably benign Het
Hivep1 A T 13: 42,154,988 K235* probably null Het
Kcnip2 T C 19: 45,794,307 probably null Het
Kpna3 T C 14: 61,370,445 N437S possibly damaging Het
Lmtk2 A T 5: 144,175,935 R1158* probably null Het
Lpo A G 11: 87,807,333 V612A possibly damaging Het
Myh15 T C 16: 49,114,058 C663R probably damaging Het
Nacad G A 11: 6,605,700 R17C unknown Het
Olfr1351 A T 10: 79,017,936 M205L probably benign Het
Pcsk2 A G 2: 143,687,580 Q99R possibly damaging Het
Pkd1l2 T C 8: 117,060,525 N593S probably benign Het
Plce1 G A 19: 38,720,981 S1093N probably damaging Het
Rhpn2 T A 7: 35,376,171 Y258N probably benign Het
Serpinb9d T C 13: 33,200,705 Y222H probably damaging Het
Shprh T C 10: 11,191,062 L1401P probably damaging Het
Slc5a7 A G 17: 54,281,833 L262P probably damaging Het
Stat2 T G 10: 128,281,176 F293V probably benign Het
Stpg4 T A 17: 87,395,157 probably null Het
Styk1 G T 6: 131,302,366 probably benign Het
Sult2a2 T A 7: 13,734,796 D62E probably damaging Het
Sytl2 G A 7: 90,396,537 V632M probably damaging Het
Themis C T 10: 28,782,311 Q445* probably null Het
Tmem225 A T 9: 40,148,429 E35V probably damaging Het
Vmn1r48 T A 6: 90,036,283 T187S probably damaging Het
Other mutations in Xpnpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Xpnpep1 APN 19 53010148 missense probably benign 0.06
IGL01665:Xpnpep1 APN 19 52997032 missense probably benign 0.00
IGL02011:Xpnpep1 APN 19 53002465 critical splice donor site probably benign 0.00
IGL03229:Xpnpep1 APN 19 53025380 missense probably benign
IGL03334:Xpnpep1 APN 19 53010146 missense probably damaging 1.00
R0226:Xpnpep1 UTSW 19 53010152 missense probably benign 0.03
R0613:Xpnpep1 UTSW 19 53006353 missense probably damaging 0.97
R0648:Xpnpep1 UTSW 19 52997863 splice site probably benign
R1543:Xpnpep1 UTSW 19 52991676 missense probably benign 0.24
R1553:Xpnpep1 UTSW 19 53006338 missense probably benign 0.00
R1801:Xpnpep1 UTSW 19 53010133 missense probably damaging 1.00
R1853:Xpnpep1 UTSW 19 53006210 missense probably benign 0.01
R2234:Xpnpep1 UTSW 19 53013461 missense probably damaging 1.00
R3797:Xpnpep1 UTSW 19 53006342 missense probably benign 0.28
R3820:Xpnpep1 UTSW 19 53003819 splice site probably benign
R3822:Xpnpep1 UTSW 19 53003819 splice site probably benign
R3925:Xpnpep1 UTSW 19 52991697 missense probably damaging 1.00
R4831:Xpnpep1 UTSW 19 53014622 missense probably benign 0.09
R5033:Xpnpep1 UTSW 19 53006175 missense probably benign
R5184:Xpnpep1 UTSW 19 53013414 missense probably benign 0.24
R5468:Xpnpep1 UTSW 19 52995519 missense probably benign 0.01
R5573:Xpnpep1 UTSW 19 53004822 missense probably damaging 1.00
R5876:Xpnpep1 UTSW 19 52997008 missense probably damaging 1.00
R5929:Xpnpep1 UTSW 19 53013489 missense probably damaging 1.00
R6454:Xpnpep1 UTSW 19 52997879 missense possibly damaging 0.91
R6519:Xpnpep1 UTSW 19 53011844 missense possibly damaging 0.90
R7095:Xpnpep1 UTSW 19 53011765 critical splice donor site probably null
R7112:Xpnpep1 UTSW 19 53010107 missense probably benign
R7412:Xpnpep1 UTSW 19 53006291 missense probably benign
R8329:Xpnpep1 UTSW 19 53002472 critical splice donor site probably null
R8431:Xpnpep1 UTSW 19 52995506 missense probably benign 0.04
R9194:Xpnpep1 UTSW 19 53011858 missense possibly damaging 0.68
R9342:Xpnpep1 UTSW 19 53004817 missense probably benign 0.02
R9388:Xpnpep1 UTSW 19 53004802 missense probably damaging 1.00
R9546:Xpnpep1 UTSW 19 53002528 missense probably damaging 1.00
R9746:Xpnpep1 UTSW 19 53013461 missense probably damaging 1.00
RF017:Xpnpep1 UTSW 19 53032060 missense probably benign 0.21
Posted On 2014-02-04