Incidental Mutation 'IGL01869:Npepps'
ID 178645
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01869
Quality Score
Status
Chromosome 11
Chromosomal Location 97096668-97171464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97126948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 437 (I437M)
Ref Sequence ENSEMBL: ENSMUSP00000127801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001480] [ENSMUST00000154372] [ENSMUST00000167806] [ENSMUST00000172108]
AlphaFold Q11011
Predicted Effect probably damaging
Transcript: ENSMUST00000001480
AA Change: I437M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441
AA Change: I437M

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: ENSMUST00000133907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152820
Predicted Effect probably benign
Transcript: ENSMUST00000154372
Predicted Effect unknown
Transcript: ENSMUST00000163164
AA Change: I158M
SMART Domains Protein: ENSMUSP00000129361
Gene: ENSMUSG00000001441
AA Change: I158M

DomainStartEndE-ValueType
Pfam:Peptidase_M1 2 145 2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167806
AA Change: I437M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441
AA Change: I437M

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 damaging
Transcript: ENSMUST00000172108
AA Change: I437M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441
AA Change: I437M

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
Predicted Effect unknown
Transcript: ENSMUST00000165216
AA Change: I392M
SMART Domains Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441
AA Change: I392M

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 noncoding transcript
Transcript: ENSMUST00000165489
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,495,689 (GRCm39) noncoding transcript Het
Adam29 T C 8: 56,324,732 (GRCm39) H574R probably damaging Het
Arap1 C A 7: 101,049,490 (GRCm39) T984K probably damaging Het
Ccdc146 A T 5: 21,521,837 (GRCm39) S396T probably benign Het
Col6a3 T C 1: 90,700,770 (GRCm39) K2587E unknown Het
Cyp3a44 A G 5: 145,727,496 (GRCm39) S278P probably damaging Het
Daw1 T G 1: 83,159,965 (GRCm39) probably benign Het
Dnah17 T C 11: 117,943,502 (GRCm39) K3200R probably benign Het
Efhd2 A G 4: 141,601,913 (GRCm39) F89S probably damaging Het
Fras1 A G 5: 96,856,642 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,979 (GRCm39) D68G probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3604 A T 13: 62,517,954 (GRCm39) C134S probably damaging Het
Gpaa1 A G 15: 76,217,198 (GRCm39) T178A probably benign Het
Lama3 A G 18: 12,657,820 (GRCm39) N312S possibly damaging Het
Or10q12 A G 19: 13,746,534 (GRCm39) D276G probably benign Het
Or11i1 C T 3: 106,729,342 (GRCm39) D178N probably benign Het
Rcor1 C A 12: 111,070,193 (GRCm39) T330K possibly damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Sema3g A G 14: 30,945,624 (GRCm39) E478G probably damaging Het
Smg9 A G 7: 24,115,949 (GRCm39) D280G probably damaging Het
Smtnl1 A T 2: 84,641,741 (GRCm39) *460R probably null Het
Syde1 A G 10: 78,424,753 (GRCm39) C360R possibly damaging Het
Szt2 A G 4: 118,256,268 (GRCm39) V197A possibly damaging Het
Tnrc6c T C 11: 117,646,274 (GRCm39) V1405A possibly damaging Het
Ttbk1 A G 17: 46,757,989 (GRCm39) S882P probably damaging Het
Tubgcp4 T A 2: 121,006,269 (GRCm39) H116Q possibly damaging Het
Vmn1r192 T A 13: 22,371,750 (GRCm39) N157Y probably damaging Het
Vmn1r60 C T 7: 5,547,228 (GRCm39) V291M probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo5 C T 17: 46,553,133 (GRCm39) P1184L possibly damaging Het
Zfp946 T G 17: 22,673,684 (GRCm39) I146S 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
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
IGL03054:Npepps UTSW 11 97,132,614 (GRCm39) intron probably benign
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
Posted On 2014-05-07