Incidental Mutation 'R6244:Npepps'
ID 505471
Institutional Source Beutler Lab
Gene Symbol Npepps
Ensembl Gene ENSMUSG00000001441
Gene Name aminopeptidase puromycin sensitive
Synonyms Psa, MP100
MMRRC Submission 044435-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R6244 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97096668-97171464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97104616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 796 (V796D)
Ref Sequence ENSEMBL: ENSMUSP00000127801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001480] [ENSMUST00000167806] [ENSMUST00000172108]
AlphaFold Q11011
Predicted Effect probably damaging
Transcript: ENSMUST00000001480
AA Change: V796D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441
AA Change: V796D

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: ENSMUST00000107608
Predicted Effect unknown
Transcript: ENSMUST00000165216
AA Change: V751D
SMART Domains Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441
AA Change: V751D

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 possibly damaging
Transcript: ENSMUST00000167806
AA Change: V656D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441
AA Change: V656D

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 noncoding transcript
Transcript: ENSMUST00000170506
Predicted Effect probably damaging
Transcript: ENSMUST00000172108
AA Change: V796D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441
AA Change: V796D

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 noncoding transcript
Transcript: ENSMUST00000171320
Meta Mutation Damage Score 0.9270 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,150 (GRCm39) H113R possibly damaging Het
Adgrf3 A T 5: 30,402,531 (GRCm39) M499K probably benign Het
Adgrv1 G A 13: 81,255,050 (GRCm39) T211I probably damaging Het
Adss2 C T 1: 177,604,395 (GRCm39) E153K probably benign Het
Ago4 C A 4: 126,405,280 (GRCm39) G431V possibly damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Atp2b4 T A 1: 133,654,299 (GRCm39) I769F probably damaging Het
Atp9a T C 2: 168,531,272 (GRCm39) probably null Het
Bltp1 T C 3: 37,011,148 (GRCm39) V1782A probably benign Het
Brap C A 5: 121,803,372 (GRCm39) D173E probably benign Het
Brca2 G T 5: 150,490,443 (GRCm39) R3035L probably benign Het
Ccdc8 C A 7: 16,730,176 (GRCm39) P555Q probably benign Het
Ccser2 A G 14: 36,662,675 (GRCm39) S170P probably benign Het
Celsr2 T C 3: 108,300,444 (GRCm39) H860R probably damaging Het
Cenpc1 C A 5: 86,194,244 (GRCm39) R174M probably damaging Het
Cfap57 T G 4: 118,436,607 (GRCm39) I930L probably damaging Het
Cx3cr1 C T 9: 119,880,760 (GRCm39) R214H probably damaging Het
Cyp4f14 T A 17: 33,125,291 (GRCm39) H429L probably benign Het
D5Ertd579e A G 5: 36,772,620 (GRCm39) F592L probably damaging Het
Ddb1 A G 19: 10,603,287 (GRCm39) E865G probably damaging Het
Ddx50 A T 10: 62,457,345 (GRCm39) probably null Het
Dpp6 A G 5: 27,254,626 (GRCm39) T14A probably damaging Het
Echs1 C A 7: 139,692,982 (GRCm39) Q51H possibly damaging Het
Ecm2 A T 13: 49,683,783 (GRCm39) D587V probably damaging Het
Ect2l A T 10: 18,016,145 (GRCm39) Y666N possibly damaging Het
Epha2 G A 4: 141,044,223 (GRCm39) G342S probably benign Het
Fbxo33 C A 12: 59,252,865 (GRCm39) K211N probably benign Het
Fchsd2 A G 7: 100,908,983 (GRCm39) probably null Het
Fen1 A G 19: 10,178,051 (GRCm39) V131A probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,545,477 (GRCm39) T206A possibly damaging Het
Fut1 A G 7: 45,268,730 (GRCm39) E228G possibly damaging Het
Galnt13 T C 2: 54,823,560 (GRCm39) F379L probably damaging Het
Gcnt2 A C 13: 41,014,717 (GRCm39) E296A probably damaging Het
Gm7145 T A 1: 117,913,870 (GRCm39) C251S probably damaging Het
Gpam G A 19: 55,059,417 (GRCm39) P810L probably damaging Het
Il1rl2 T A 1: 40,366,726 (GRCm39) L87M possibly damaging Het
Itgae A G 11: 73,036,427 (GRCm39) S1122G probably damaging Het
Kcnh7 T A 2: 63,012,570 (GRCm39) D46V probably damaging Het
Kcnn3 T G 3: 89,552,830 (GRCm39) Y511* probably null Het
Kdm3b T A 18: 34,926,058 (GRCm39) I66N probably damaging Het
Klk1b27 A T 7: 43,703,974 (GRCm39) H39L probably benign Het
Kmo C T 1: 175,487,261 (GRCm39) T404I possibly damaging Het
Krt222 C T 11: 99,125,884 (GRCm39) probably null Het
Magi3 G C 3: 103,923,013 (GRCm39) H1235D probably benign Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Med15 G A 16: 17,470,609 (GRCm39) Q583* probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh13 A G 11: 67,253,327 (GRCm39) M1488V probably benign Het
Naip2 A T 13: 100,288,645 (GRCm39) F1193L probably damaging Het
Nop58 T A 1: 59,742,014 (GRCm39) M181K probably damaging Het
Nr1d1 A G 11: 98,661,363 (GRCm39) F301S probably damaging Het
Nynrin G A 14: 56,105,485 (GRCm39) V832I probably damaging Het
Or13a28 C A 7: 140,218,346 (GRCm39) S244Y probably damaging Het
Or1j14 T A 2: 36,418,353 (GRCm39) C310S probably benign Het
Or2ak7 A T 11: 58,574,830 (GRCm39) T44S possibly damaging Het
Or4e1 T A 14: 52,701,352 (GRCm39) Y38F probably damaging Het
Or8k1 T A 2: 86,047,566 (GRCm39) T163S possibly damaging Het
Phrf1 T A 7: 140,817,586 (GRCm39) C132S probably damaging Het
Plekhn1 T C 4: 156,315,015 (GRCm39) probably null Het
Polr2a G A 11: 69,635,052 (GRCm39) T569M probably damaging Het
Prr29 A G 11: 106,267,458 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Sc5d T C 9: 42,166,717 (GRCm39) E274G probably benign Het
Serpina1d A T 12: 103,731,087 (GRCm39) probably null Het
Serpinb11 T A 1: 107,299,972 (GRCm39) I106N probably damaging Het
Setd2 G A 9: 110,377,733 (GRCm39) R516K probably damaging Het
Sirt2 G T 7: 28,487,222 (GRCm39) C291F probably damaging Het
Stac3 T C 10: 127,344,044 (GRCm39) V314A probably damaging Het
Stat6 C T 10: 127,493,581 (GRCm39) probably null Het
Strn3 A G 12: 51,656,890 (GRCm39) V712A probably damaging Het
Tmc5 G T 7: 118,233,437 (GRCm39) G84C possibly damaging Het
Tnik C A 3: 28,704,328 (GRCm39) L996I probably damaging Het
Trim30d G T 7: 104,136,817 (GRCm39) T129K probably damaging Het
Triml1 G T 8: 43,591,793 (GRCm39) Y188* probably null Het
Trpc7 A G 13: 56,921,705 (GRCm39) Y760H probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ubash3a A T 17: 31,458,246 (GRCm39) Q575L possibly damaging Het
Usp49 T A 17: 47,983,827 (GRCm39) C61* probably null Het
Vmn2r18 A T 5: 151,508,116 (GRCm39) V336E probably damaging Het
Vwa8 T C 14: 79,324,102 (GRCm39) V1135A probably benign Het
Zcchc4 T C 5: 52,940,503 (GRCm39) V24A probably benign Het
Zfp354c A G 11: 50,705,798 (GRCm39) Y426H 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
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
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'- GAGTCAGACACTTGACACACATCATG -3'
(R):5'- ACCTCAGTGGAAGAGAAGCC -3'

Sequencing Primer
(F):5'- TTTCCAGACAGAGTATCTCTATGTAG -3'
(R):5'- CCGGTATGAACATGCCTGGAATC -3'
Posted On 2018-02-28