Incidental Mutation 'R8103:Npepl1'
ID 630556
Institutional Source Beutler Lab
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
MMRRC Submission 067534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R8103 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173953002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 95 (I95F)
Ref Sequence ENSEMBL: ENSMUSP00000042808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect probably benign
Transcript: ENSMUST00000044415
AA Change: I95F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: I95F

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Pfam:Peptidase_M17 179 484 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125502
AA Change: I19F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263
AA Change: I19F

DomainStartEndE-ValueType
Pfam:Peptidase_M17 104 207 4.4e-24 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.4%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,668 (GRCm39) D216G probably benign Het
Abcg5 A T 17: 84,965,956 (GRCm39) I640K possibly damaging Het
Acadvl T C 11: 69,905,168 (GRCm39) K128R probably benign Het
Angptl7 T A 4: 148,581,018 (GRCm39) N259I probably damaging Het
Ankrd35 A G 3: 96,586,997 (GRCm39) K104R possibly damaging Het
Antxr1 T C 6: 87,165,198 (GRCm39) N413S probably damaging Het
Arhgap26 A G 18: 39,504,177 (GRCm39) T376A Het
Atf6b T G 17: 34,872,949 (GRCm39) S622A probably damaging Het
Atp5pd T A 11: 115,306,851 (GRCm39) Y115F possibly damaging Het
Axin2 T C 11: 108,822,369 (GRCm39) L307P probably damaging Het
B4galnt4 C T 7: 140,644,564 (GRCm39) T153M possibly damaging Het
Brd8 A G 18: 34,740,231 (GRCm39) V604A probably benign Het
Ccser2 T C 14: 36,618,240 (GRCm39) Y765C probably damaging Het
Cdh26 A G 2: 178,110,006 (GRCm39) D433G probably damaging Het
Cep85l T G 10: 53,175,420 (GRCm39) probably null Het
Ciao3 A G 17: 25,996,395 (GRCm39) T135A probably benign Het
Col23a1 T A 11: 51,461,014 (GRCm39) probably null Het
Col7a1 A G 9: 108,804,452 (GRCm39) D2261G unknown Het
Comp C A 8: 70,833,936 (GRCm39) N650K probably damaging Het
Copb1 A G 7: 113,834,202 (GRCm39) M476T possibly damaging Het
Dapk1 T A 13: 60,897,009 (GRCm39) S743T probably damaging Het
Ddx39a A G 8: 84,451,105 (GRCm39) probably null Het
Dgkb A G 12: 38,186,580 (GRCm39) H243R probably damaging Het
Dsg1c T G 18: 20,416,171 (GRCm39) Y691D probably damaging Het
Duox2 C T 2: 122,117,535 (GRCm39) S933N probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Edem1 G A 6: 108,829,524 (GRCm39) E548K probably damaging Het
Eif4a3l2 C T 6: 116,528,468 (GRCm39) T115I probably damaging Het
Fpr-rs6 A G 17: 20,402,839 (GRCm39) V174A possibly damaging Het
Fyco1 A T 9: 123,658,453 (GRCm39) N574K probably benign Het
Glb1l2 T A 9: 26,676,980 (GRCm39) M551L probably benign Het
Gm7694 G T 1: 170,130,284 (GRCm39) P38Q probably damaging Het
Grip1 A G 10: 119,814,440 (GRCm39) T324A probably benign Het
Htr3b A G 9: 48,857,849 (GRCm39) V131A possibly damaging Het
Igfbp1 T C 11: 7,148,106 (GRCm39) C50R probably damaging Het
Il5ra A G 6: 106,692,611 (GRCm39) I378T possibly damaging Het
Ints11 T C 4: 155,972,687 (GRCm39) L504P possibly damaging Het
Iqca1 A T 1: 89,987,330 (GRCm39) I74N Het
Kbtbd12 C T 6: 88,595,663 (GRCm39) A56T probably damaging Het
Kcnq5 T C 1: 21,549,620 (GRCm39) N369S possibly damaging Het
Kmt5b A G 19: 3,865,381 (GRCm39) D815G probably benign Het
Lnpk T C 2: 74,352,599 (GRCm39) Q361R probably benign Het
Mep1b T C 18: 21,222,442 (GRCm39) I277T possibly damaging Het
Naip6 G A 13: 100,437,851 (GRCm39) T385I probably benign Het
Nxpe4 T C 9: 48,304,020 (GRCm39) F36L probably benign Het
Optn C A 2: 5,045,013 (GRCm39) C243F probably damaging Het
Or10al7 A T 17: 38,365,903 (GRCm39) C185S probably damaging Het
Or1e33 C T 11: 73,738,735 (GRCm39) C72Y probably damaging Het
Paqr7 T C 4: 134,234,821 (GRCm39) V226A probably benign Het
Pcdh12 T A 18: 38,415,212 (GRCm39) I638F probably damaging Het
Pfas T C 11: 68,883,119 (GRCm39) T722A probably damaging Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Plxnc1 T A 10: 94,706,944 (GRCm39) H531L probably benign Het
Pom121l2 A G 13: 22,166,544 (GRCm39) T272A probably benign Het
Pparg T C 6: 115,450,102 (GRCm39) V367A possibly damaging Het
Psen2 A T 1: 180,068,356 (GRCm39) M99K probably damaging Het
Ranbp10 T C 8: 106,499,179 (GRCm39) T536A probably benign Het
Rbfox2 G T 15: 76,983,654 (GRCm39) P284T probably damaging Het
Rbmyf9 C T Y: 3,776,675 (GRCm39) T104I possibly damaging Het
Rere G A 4: 150,701,796 (GRCm39) R25H probably damaging Het
Rhpn1 T A 15: 75,581,115 (GRCm39) L119Q probably null Het
Rlig1 C A 10: 100,413,110 (GRCm39) V178F probably benign Het
Rreb1 A G 13: 38,125,677 (GRCm39) T1328A probably benign Het
Septin11 A T 5: 93,309,007 (GRCm39) probably null Het
Skida1 T A 2: 18,052,549 (GRCm39) Q201L probably benign Het
Sptan1 T A 2: 29,910,055 (GRCm39) I1805N probably damaging Het
Stard13 T A 5: 150,970,435 (GRCm39) Q853L possibly damaging Het
Susd1 T A 4: 59,365,916 (GRCm39) probably null Het
Szt2 T A 4: 118,245,061 (GRCm39) Q1158H possibly damaging Het
Tbcc A C 17: 47,202,046 (GRCm39) D144A probably benign Het
Tsn A G 1: 118,232,437 (GRCm39) I146T probably benign Het
Umad1 A T 6: 8,427,121 (GRCm39) T99S probably damaging Het
Vcan T A 13: 89,805,777 (GRCm39) E3261V probably damaging Het
Vcan C A 13: 89,851,439 (GRCm39) E1174* probably null Het
Vmn2r100 C A 17: 19,751,415 (GRCm39) probably null Het
Vmn2r65 A G 7: 84,595,919 (GRCm39) I255T probably damaging Het
Vps35l T C 7: 118,342,855 (GRCm39) S47P probably benign Het
Wdr70 A G 15: 8,006,612 (GRCm39) L313P possibly damaging Het
Ythdf2 C A 4: 131,932,089 (GRCm39) R357L probably damaging Het
Zfp523 T C 17: 28,420,267 (GRCm39) C262R probably damaging Het
Zfp553 T C 7: 126,835,936 (GRCm39) V497A probably benign Het
Zhx1 A G 15: 57,916,662 (GRCm39) L528S probably benign Het
Other mutations in Npepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Npepl1 APN 2 173,962,341 (GRCm39) missense probably damaging 1.00
IGL01651:Npepl1 APN 2 173,956,181 (GRCm39) splice site probably benign
IGL01998:Npepl1 APN 2 173,957,993 (GRCm39) splice site probably benign
IGL02079:Npepl1 APN 2 173,961,183 (GRCm39) intron probably benign
R0081:Npepl1 UTSW 2 173,957,879 (GRCm39) missense probably damaging 1.00
R1236:Npepl1 UTSW 2 173,956,273 (GRCm39) critical splice donor site probably null
R2350:Npepl1 UTSW 2 173,953,566 (GRCm39) missense probably benign
R3780:Npepl1 UTSW 2 173,962,447 (GRCm39) missense probably damaging 1.00
R3950:Npepl1 UTSW 2 173,962,906 (GRCm39) missense probably damaging 1.00
R4688:Npepl1 UTSW 2 173,956,235 (GRCm39) missense possibly damaging 0.78
R5650:Npepl1 UTSW 2 173,963,329 (GRCm39) missense possibly damaging 0.83
R5916:Npepl1 UTSW 2 173,963,337 (GRCm39) missense probably benign 0.01
R6007:Npepl1 UTSW 2 173,962,850 (GRCm39) missense probably benign 0.03
R6487:Npepl1 UTSW 2 173,953,525 (GRCm39) missense probably benign 0.16
R7267:Npepl1 UTSW 2 173,963,909 (GRCm39) missense probably damaging 1.00
R7881:Npepl1 UTSW 2 173,962,387 (GRCm39) missense probably damaging 1.00
R9547:Npepl1 UTSW 2 173,962,030 (GRCm39) missense probably null 0.88
R9740:Npepl1 UTSW 2 173,963,283 (GRCm39) missense probably damaging 0.99
Z1177:Npepl1 UTSW 2 173,963,923 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGCACACGTGTTGAAGCC -3'
(R):5'- CCAGGCCTCAATAAATCTAGGC -3'

Sequencing Primer
(F):5'- GAAGCCCGGTCCGTCTCATATC -3'
(R):5'- AAATCTAGGCTGGCATCTCTG -3'
Posted On 2020-06-30