Incidental Mutation 'R4810:Npepps'
ID 371020
Institutional Source Beutler Lab
Gene Symbol Npepps
Ensembl Gene ENSMUSG00000001441
Gene Name aminopeptidase puromycin sensitive
Synonyms Psa, MP100
MMRRC Submission 042429-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R4810 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97096668-97171464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97131759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 365 (T365I)
Ref Sequence ENSEMBL: ENSMUSP00000127801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001480] [ENSMUST00000154372] [ENSMUST00000154917] [ENSMUST00000167806] [ENSMUST00000172108]
AlphaFold Q11011
Predicted Effect probably damaging
Transcript: ENSMUST00000001480
AA Change: T365I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441
AA Change: T365I

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 unknown
Transcript: ENSMUST00000163164
AA Change: T141I
SMART Domains Protein: ENSMUSP00000129361
Gene: ENSMUSG00000001441
AA Change: T141I

DomainStartEndE-ValueType
Pfam:Peptidase_M1 2 145 2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167806
AA Change: T365I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441
AA Change: T365I

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: T365I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441
AA Change: T365I

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: T320I
SMART Domains Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441
AA Change: T320I

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
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 99% (93/94)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,216 (GRCm39) V1189A possibly damaging Het
A3galt2 T C 4: 128,649,356 (GRCm39) probably null Het
Abca12 T C 1: 71,342,771 (GRCm39) D903G probably benign Het
Abcc12 T C 8: 87,287,471 (GRCm39) M125V probably damaging Het
Adad1 A G 3: 37,146,183 (GRCm39) N517S probably damaging Het
Ankrd44 A G 1: 54,774,302 (GRCm39) probably benign Het
Armc7 A G 11: 115,379,787 (GRCm39) I162V probably benign Het
Art3 T A 5: 92,562,108 (GRCm39) V343D possibly damaging Het
Bcl9l A G 9: 44,419,650 (GRCm39) T1106A probably damaging Het
Ccdc141 T C 2: 76,876,099 (GRCm39) N644D possibly damaging Het
Ccdc154 T C 17: 25,382,472 (GRCm39) L98S probably damaging Het
Ccne1 A G 7: 37,799,018 (GRCm39) W237R probably damaging Het
Cd33 T C 7: 43,182,134 (GRCm39) I104V probably damaging Het
Ceacam1 A T 7: 25,173,945 (GRCm39) *237K probably null Het
Ces1e T A 8: 93,935,259 (GRCm39) I398F probably benign Het
Cfap44 T C 16: 44,271,898 (GRCm39) I1217T probably damaging Het
Clns1a T C 7: 97,363,224 (GRCm39) S199P probably benign Het
Cntn4 C A 6: 106,632,572 (GRCm39) T532K probably benign Het
Col11a2 C T 17: 34,276,086 (GRCm39) S470L probably damaging Het
Cst5 A T 2: 149,247,463 (GRCm39) R60* probably null Het
Cxcr6 A T 9: 123,639,227 (GRCm39) D83V probably damaging Het
Dis3l2 T C 1: 86,975,296 (GRCm39) V774A probably damaging Het
Dusp15 A G 2: 152,787,374 (GRCm39) L79P probably damaging Het
Elapor1 T A 3: 108,377,327 (GRCm39) probably benign Het
Eml6 A T 11: 29,705,011 (GRCm39) V1511E possibly damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b A G 2: 125,829,859 (GRCm39) F450L probably benign Het
Fam91a1 T A 15: 58,306,589 (GRCm39) L452Q probably damaging Het
Fbxo44 T C 4: 148,240,903 (GRCm39) Y199C probably damaging Het
Fgd3 A G 13: 49,443,126 (GRCm39) S149P probably benign Het
Gabra4 T C 5: 71,781,325 (GRCm39) E362G probably damaging Het
Galnt14 T C 17: 73,819,116 (GRCm39) I325V probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm10088 G T 16: 18,847,081 (GRCm39) noncoding transcript Het
Grik5 T C 7: 24,714,922 (GRCm39) N691D probably damaging Het
Grm1 C G 10: 10,658,438 (GRCm39) D351H probably damaging Het
Grm8 T C 6: 27,761,295 (GRCm39) S310G possibly damaging Het
Gtf2h2 A G 13: 100,617,510 (GRCm39) probably null Het
Hhex G T 19: 37,428,103 (GRCm39) L49F probably damaging Het
Hkdc1 T A 10: 62,247,304 (GRCm39) R159S probably benign Het
Iqcm A G 8: 76,615,281 (GRCm39) Y454C probably damaging Het
Kcnh8 G A 17: 53,212,248 (GRCm39) probably null Het
Larp4b A G 13: 9,208,627 (GRCm39) T427A probably benign Het
Mtmr3 A T 11: 4,448,046 (GRCm39) N297K probably benign Het
Nek8 G A 11: 78,058,629 (GRCm39) T557I probably benign Het
Nlrp9c A C 7: 26,077,602 (GRCm39) probably null Het
Nmrk1 T A 19: 18,617,273 (GRCm39) D48E probably benign Het
Obscn G A 11: 58,922,417 (GRCm39) T5921M possibly damaging Het
Or8b44 C A 9: 38,410,620 (GRCm39) Y218* probably null Het
Or8c9 A G 9: 38,241,690 (GRCm39) E269G probably benign Het
Otud7b C T 3: 96,043,918 (GRCm39) A23V probably damaging Het
Pcdhga9 G A 18: 37,871,601 (GRCm39) A477T possibly damaging Het
Plekha7 A T 7: 115,744,173 (GRCm39) I663N probably damaging Het
Plscr1l1 A G 9: 92,236,683 (GRCm39) D190G probably damaging Het
Polk A T 13: 96,620,003 (GRCm39) S732R possibly damaging Het
Ppfia2 A G 10: 106,751,551 (GRCm39) I1166V probably benign Het
Ppp2r5a C T 1: 191,088,589 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,897,011 (GRCm39) K401E probably damaging Het
Ptpn23 A G 9: 110,218,204 (GRCm39) Y611H possibly damaging Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,507,406 (GRCm39) C443S probably damaging Het
Ralgapa1 A G 12: 55,841,778 (GRCm39) probably null Het
Rev3l T C 10: 39,699,721 (GRCm39) L1406P probably benign Het
Rnaset2b T A 17: 7,259,167 (GRCm39) D48E probably benign Het
Rnf13 G T 3: 57,703,693 (GRCm39) M105I probably damaging Het
Rnf150 T C 8: 83,716,991 (GRCm39) V166A possibly damaging Het
Rps6kc1 C A 1: 190,541,160 (GRCm39) R381L probably damaging Het
Rspo2 C T 15: 43,033,216 (GRCm39) R2H probably benign Het
Septin8 A G 11: 53,425,416 (GRCm39) D103G probably damaging Het
Sirt4 A G 5: 115,618,508 (GRCm39) W189R probably damaging Het
Slco6d1 T C 1: 98,350,979 (GRCm39) V110A possibly damaging Het
Sncaip C A 18: 53,040,271 (GRCm39) Q822K possibly damaging Het
Spg11 A C 2: 121,890,277 (GRCm39) F2070V probably damaging Het
Sptb A T 12: 76,669,971 (GRCm39) Y452* probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tead1 C A 7: 112,441,073 (GRCm39) probably null Het
Tmem156 G T 5: 65,248,790 (GRCm39) probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem260 A G 14: 48,709,930 (GRCm39) E51G probably damaging Het
Trim36 G T 18: 46,305,536 (GRCm39) N470K probably benign Het
Trps1 T A 15: 50,685,692 (GRCm39) T158S probably benign Het
Ube2c A G 2: 164,614,482 (GRCm39) *180W probably null Het
Ube2i T C 17: 25,484,121 (GRCm39) D45G probably benign Het
Uggt2 A C 14: 119,250,933 (GRCm39) L1188R probably damaging Het
Uroc1 T C 6: 90,340,135 (GRCm39) I680T probably damaging Het
Vmn2r2 T A 3: 64,044,883 (GRCm39) M88L probably damaging Het
Zfp248 G A 6: 118,406,807 (GRCm39) R261C possibly damaging Het
Zfp418 G T 7: 7,185,846 (GRCm39) R603L possibly damaging Het
Zmpste24 T A 4: 120,918,251 (GRCm39) Y457F probably damaging 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
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
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'- ACAGCCCTGATAAATGCGTTTG -3'
(R):5'- AGTTGACTTACTGCCTGAACCTC -3'

Sequencing Primer
(F):5'- AACTCACTTTGTAGACCAGGCTGG -3'
(R):5'- GACTTACTGCCTGAACCTCCTTCTC -3'
Posted On 2016-02-04