Incidental Mutation 'R6519:Xpnpep1'
ID 521054
Institutional Source Beutler Lab
Gene Symbol Xpnpep1
Ensembl Gene ENSMUSG00000025027
Gene Name X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
Synonyms D230045I08Rik
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 52919710-53027093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53000275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 192 (N192D)
Ref Sequence ENSEMBL: ENSMUSP00000138233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182097] [ENSMUST00000182500] [ENSMUST00000183108] [ENSMUST00000183274]
AlphaFold Q6P1B1
Predicted Effect probably benign
Transcript: ENSMUST00000182097
SMART Domains Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027

DomainStartEndE-ValueType
Pfam:Creatinase_N 9 119 5.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182877
Predicted Effect possibly damaging
Transcript: ENSMUST00000183108
AA Change: N192D

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: N192D

DomainStartEndE-ValueType
Pfam:Creatinase_N 53 198 1.2e-17 PFAM
Pfam:Peptidase_M24 371 587 5.5e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183274
AA Change: N192D

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: N192D

DomainStartEndE-ValueType
Pfam:Creatinase_N 53 198 1.2e-17 PFAM
Pfam:Peptidase_M24 371 587 1.9e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183188
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null Het
Other mutations in Xpnpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Xpnpep1 APN 19 52,998,579 (GRCm39) missense probably benign 0.06
IGL01665:Xpnpep1 APN 19 52,985,463 (GRCm39) missense probably benign 0.00
IGL01833:Xpnpep1 APN 19 52,988,824 (GRCm39) missense probably damaging 1.00
IGL02011:Xpnpep1 APN 19 52,990,896 (GRCm39) critical splice donor site probably benign 0.00
IGL03229:Xpnpep1 APN 19 53,013,811 (GRCm39) missense probably benign
IGL03334:Xpnpep1 APN 19 52,998,577 (GRCm39) missense probably damaging 1.00
R0226:Xpnpep1 UTSW 19 52,998,583 (GRCm39) missense probably benign 0.03
R0613:Xpnpep1 UTSW 19 52,994,784 (GRCm39) missense probably damaging 0.97
R0648:Xpnpep1 UTSW 19 52,986,294 (GRCm39) splice site probably benign
R1543:Xpnpep1 UTSW 19 52,980,107 (GRCm39) missense probably benign 0.24
R1553:Xpnpep1 UTSW 19 52,994,769 (GRCm39) missense probably benign 0.00
R1801:Xpnpep1 UTSW 19 52,998,564 (GRCm39) missense probably damaging 1.00
R1853:Xpnpep1 UTSW 19 52,994,641 (GRCm39) missense probably benign 0.01
R2234:Xpnpep1 UTSW 19 53,001,892 (GRCm39) missense probably damaging 1.00
R3797:Xpnpep1 UTSW 19 52,994,773 (GRCm39) missense probably benign 0.28
R3820:Xpnpep1 UTSW 19 52,992,250 (GRCm39) splice site probably benign
R3822:Xpnpep1 UTSW 19 52,992,250 (GRCm39) splice site probably benign
R3925:Xpnpep1 UTSW 19 52,980,128 (GRCm39) missense probably damaging 1.00
R4831:Xpnpep1 UTSW 19 53,003,053 (GRCm39) missense probably benign 0.09
R5033:Xpnpep1 UTSW 19 52,994,606 (GRCm39) missense probably benign
R5184:Xpnpep1 UTSW 19 53,001,845 (GRCm39) missense probably benign 0.24
R5468:Xpnpep1 UTSW 19 52,983,950 (GRCm39) missense probably benign 0.01
R5573:Xpnpep1 UTSW 19 52,993,253 (GRCm39) missense probably damaging 1.00
R5876:Xpnpep1 UTSW 19 52,985,439 (GRCm39) missense probably damaging 1.00
R5929:Xpnpep1 UTSW 19 53,001,920 (GRCm39) missense probably damaging 1.00
R6454:Xpnpep1 UTSW 19 52,986,310 (GRCm39) missense possibly damaging 0.91
R7095:Xpnpep1 UTSW 19 53,000,196 (GRCm39) critical splice donor site probably null
R7112:Xpnpep1 UTSW 19 52,998,538 (GRCm39) missense probably benign
R7412:Xpnpep1 UTSW 19 52,994,722 (GRCm39) missense probably benign
R8329:Xpnpep1 UTSW 19 52,990,903 (GRCm39) critical splice donor site probably null
R8431:Xpnpep1 UTSW 19 52,983,937 (GRCm39) missense probably benign 0.04
R9194:Xpnpep1 UTSW 19 53,000,289 (GRCm39) missense possibly damaging 0.68
R9342:Xpnpep1 UTSW 19 52,993,248 (GRCm39) missense probably benign 0.02
R9388:Xpnpep1 UTSW 19 52,993,233 (GRCm39) missense probably damaging 1.00
R9546:Xpnpep1 UTSW 19 52,990,959 (GRCm39) missense probably damaging 1.00
R9746:Xpnpep1 UTSW 19 53,001,892 (GRCm39) missense probably damaging 1.00
RF017:Xpnpep1 UTSW 19 53,020,491 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GGCAGAGTCCTGTGGTAATG -3'
(R):5'- GGTCTTCATTCTGCATGCCTGG -3'

Sequencing Primer
(F):5'- TAATGCCAGAGACCTGTGCTG -3'
(R):5'- CATGCCTGGCACTGAGGAATAC -3'
Posted On 2018-06-06