Incidental Mutation 'IGL03054:Npepps'
ID 453030
Institutional Source Beutler Lab
Gene Symbol Npepps
Ensembl Gene ENSMUSG00000001441
Gene Name aminopeptidase puromycin sensitive
Synonyms Psa, MP100
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # IGL03054 (G1)
Quality Score 112
Status Validated
Chromosome 11
Chromosomal Location 97096668-97171464 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 97132614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001480] [ENSMUST00000154372] [ENSMUST00000154917] [ENSMUST00000167806] [ENSMUST00000172108]
AlphaFold Q11011
Predicted Effect probably benign
Transcript: ENSMUST00000001480
SMART Domains Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 3 45 N/A INTRINSIC
Pfam:Peptidase_M1 54 442 5.2e-155 PFAM
Pfam:ERAP1_C 579 892 7.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152820
Predicted Effect probably benign
Transcript: ENSMUST00000154372
Predicted Effect probably benign
Transcript: ENSMUST00000154917
SMART Domains Protein: ENSMUSP00000127631
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 3 45 N/A INTRINSIC
Pfam:Peptidase_M1 54 116 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163164
SMART Domains Protein: ENSMUSP00000129361
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
Pfam:Peptidase_M1 2 145 2e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165489
Predicted Effect probably benign
Transcript: ENSMUST00000165216
SMART Domains Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 4 35 N/A INTRINSIC
Pfam:Peptidase_M1 46 183 1.6e-28 PFAM
Pfam:Peptidase_M1 174 398 2.9e-100 PFAM
Pfam:ERAP1_C 535 848 2.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168743
SMART Domains Protein: ENSMUSP00000127127
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Peptidase_M1 38 247 4.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167806
SMART Domains Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 3 45 N/A INTRINSIC
Pfam:Peptidase_M1 54 442 3e-153 PFAM
Pfam:Peptidase_MA_2 321 465 7.4e-24 PFAM
Pfam:ERAP1_C 579 632 5.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172108
SMART Domains Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441

DomainStartEndE-ValueType
low complexity region 3 45 N/A INTRINSIC
Pfam:Peptidase_M1 54 442 6e-153 PFAM
Pfam:Peptidase_MA_2 321 465 1.2e-23 PFAM
Pfam:ERAP1_C 579 859 5.7e-55 PFAM
low complexity region 868 886 N/A INTRINSIC
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Acsbg3 A G 17: 57,193,528 (GRCm39) T625A possibly damaging Het
Aloxe3 T C 11: 69,020,433 (GRCm39) V159A possibly damaging Het
Atp13a2 T A 4: 140,734,279 (GRCm39) C1134S possibly damaging Het
Ccdc40 G A 11: 119,154,027 (GRCm39) E1100K possibly damaging Het
Ceacam5 A T 7: 17,493,379 (GRCm39) T801S possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col4a2 T C 8: 11,498,270 (GRCm39) I1693T probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dab2 G T 15: 6,447,707 (GRCm39) probably benign Het
Dao T C 5: 114,162,963 (GRCm39) L345P probably damaging Het
Dis3l A G 9: 64,217,722 (GRCm39) probably null Het
Egr3 C T 14: 70,316,561 (GRCm39) T124M probably damaging Het
Gng7 G T 10: 80,787,485 (GRCm39) F59L probably damaging Het
Itgb4 C A 11: 115,891,166 (GRCm39) Y1190* probably null Het
Lacc1 T C 14: 77,268,355 (GRCm39) M319V possibly damaging Het
Mapkbp1 A G 2: 119,845,881 (GRCm39) T417A probably damaging Het
Mier3 C T 13: 111,822,848 (GRCm39) probably benign Het
Mlxipl A G 5: 135,162,110 (GRCm39) D569G possibly damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrpl15 A G 1: 4,855,794 (GRCm39) probably null Het
Neb T C 2: 52,161,334 (GRCm39) N2153D probably damaging Het
Nlrp9c A G 7: 26,081,701 (GRCm39) probably null Het
Or13a17 T G 7: 140,271,623 (GRCm39) S268R probably benign Het
Or1j10 A T 2: 36,266,944 (GRCm39) H52L possibly damaging Het
Or52z12 C A 7: 103,234,047 (GRCm39) H273N probably benign Het
Psmc4 T C 7: 27,746,605 (GRCm39) Y160C probably damaging Het
Rims1 T C 1: 22,360,333 (GRCm39) Y131C probably damaging Het
Riok1 G A 13: 38,231,291 (GRCm39) G183D probably damaging Het
Samd9l T A 6: 3,376,023 (GRCm39) I413F probably damaging Het
Tnfrsf22 A G 7: 143,194,532 (GRCm39) Y132H probably damaging Het
Ttn T A 2: 76,726,104 (GRCm39) probably benign Het
Tulp1 A G 17: 28,578,287 (GRCm39) probably benign Het
Usp15 C A 10: 122,961,836 (GRCm39) probably benign Het
Wdr7 G T 18: 63,958,192 (GRCm39) probably benign Het
Other mutations in Npepps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Npepps APN 11 97,126,884 (GRCm39) splice site probably benign
IGL00904:Npepps APN 11 97,149,132 (GRCm39) missense probably damaging 0.99
IGL00925:Npepps APN 11 97,171,109 (GRCm39) missense probably damaging 0.97
IGL01074:Npepps APN 11 97,108,637 (GRCm39) missense probably damaging 0.98
IGL01869:Npepps APN 11 97,126,948 (GRCm39) missense probably damaging 1.00
IGL01879:Npepps APN 11 97,149,166 (GRCm39) missense possibly damaging 0.66
IGL02145:Npepps APN 11 97,109,328 (GRCm39) splice site probably null
IGL02493:Npepps APN 11 97,128,985 (GRCm39) missense probably damaging 1.00
IGL02561:Npepps APN 11 97,120,675 (GRCm39) nonsense probably null
IGL02957:Npepps APN 11 97,133,478 (GRCm39) missense probably damaging 1.00
IGL03008:Npepps APN 11 97,128,984 (GRCm39) missense probably damaging 1.00
disadvantaged UTSW 11 97,149,099 (GRCm39) critical splice donor site probably null
put_upon UTSW 11 97,139,026 (GRCm39) critical splice donor site probably null
Underprivileged UTSW 11 97,158,470 (GRCm39) nonsense probably null
R0280:Npepps UTSW 11 97,131,840 (GRCm39) missense possibly damaging 0.90
R0743:Npepps UTSW 11 97,096,884 (GRCm39) utr 3 prime probably benign
R0838:Npepps UTSW 11 97,158,518 (GRCm39) splice site probably benign
R1449:Npepps UTSW 11 97,097,980 (GRCm39) missense probably benign 0.01
R1478:Npepps UTSW 11 97,117,673 (GRCm39) missense probably benign 0.03
R1502:Npepps UTSW 11 97,109,401 (GRCm39) missense possibly damaging 0.79
R1726:Npepps UTSW 11 97,115,495 (GRCm39) missense probably damaging 1.00
R2413:Npepps UTSW 11 97,131,792 (GRCm39) missense probably damaging 1.00
R3619:Npepps UTSW 11 97,139,091 (GRCm39) missense possibly damaging 0.90
R4620:Npepps UTSW 11 97,129,070 (GRCm39) missense probably damaging 1.00
R4782:Npepps UTSW 11 97,117,652 (GRCm39) missense probably damaging 1.00
R4810:Npepps UTSW 11 97,131,759 (GRCm39) missense probably damaging 1.00
R4998:Npepps UTSW 11 97,096,933 (GRCm39) intron probably benign
R5086:Npepps UTSW 11 97,108,625 (GRCm39) missense probably benign 0.01
R5289:Npepps UTSW 11 97,131,753 (GRCm39) critical splice donor site probably null
R5740:Npepps UTSW 11 97,126,894 (GRCm39) missense possibly damaging 0.85
R6004:Npepps UTSW 11 97,113,950 (GRCm39) missense probably benign 0.03
R6181:Npepps UTSW 11 97,132,830 (GRCm39) missense probably damaging 0.98
R6213:Npepps UTSW 11 97,132,823 (GRCm39) nonsense probably null
R6244:Npepps UTSW 11 97,104,616 (GRCm39) missense probably damaging 1.00
R6318:Npepps UTSW 11 97,109,374 (GRCm39) missense probably damaging 0.98
R6478:Npepps UTSW 11 97,149,099 (GRCm39) critical splice donor site probably null
R6724:Npepps UTSW 11 97,096,828 (GRCm39) utr 3 prime probably benign
R6890:Npepps UTSW 11 97,158,470 (GRCm39) nonsense probably null
R7035:Npepps UTSW 11 97,113,965 (GRCm39) missense probably damaging 0.99
R7426:Npepps UTSW 11 97,103,982 (GRCm39) missense probably benign 0.19
R7749:Npepps UTSW 11 97,158,454 (GRCm39) missense probably benign
R7819:Npepps UTSW 11 97,139,095 (GRCm39) missense probably damaging 1.00
R7885:Npepps UTSW 11 97,109,474 (GRCm39) missense probably damaging 1.00
R8142:Npepps UTSW 11 97,109,398 (GRCm39) missense probably damaging 1.00
R8176:Npepps UTSW 11 97,126,977 (GRCm39) missense probably damaging 1.00
R8237:Npepps UTSW 11 97,139,026 (GRCm39) critical splice donor site probably null
R8355:Npepps UTSW 11 97,132,800 (GRCm39) missense probably damaging 1.00
R8360:Npepps UTSW 11 97,120,665 (GRCm39) missense probably benign
R8455:Npepps UTSW 11 97,132,800 (GRCm39) missense probably damaging 1.00
R8465:Npepps UTSW 11 97,139,085 (GRCm39) missense probably damaging 1.00
R8508:Npepps UTSW 11 97,135,252 (GRCm39) critical splice donor site probably null
R8828:Npepps UTSW 11 97,131,823 (GRCm39) missense probably damaging 0.98
R9011:Npepps UTSW 11 97,131,757 (GRCm39) missense probably damaging 1.00
R9210:Npepps UTSW 11 97,129,047 (GRCm39) missense probably damaging 1.00
R9212:Npepps UTSW 11 97,129,047 (GRCm39) missense probably damaging 1.00
R9593:Npepps UTSW 11 97,149,179 (GRCm39) critical splice acceptor site probably null
R9614:Npepps UTSW 11 97,149,177 (GRCm39) missense probably benign 0.02
R9772:Npepps UTSW 11 97,113,983 (GRCm39) missense probably benign 0.13
X0021:Npepps UTSW 11 97,128,946 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACGTGACTCAGCCAAGAAC -3'
(R):5'- TGCTATTGCTGACTTTGCAGC -3'

Sequencing Primer
(F):5'- GCGACAAGTGCCAAATGC -3'
(R):5'- CTTTGCAGCTGGTAAAGTAAATTTC -3'
Posted On 2017-01-24