Incidental Mutation 'R3780:Npepl1'
ID 271994
Institutional Source Beutler Lab
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R3780 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 173962447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 371 (L371R)
Ref Sequence ENSEMBL: ENSMUSP00000042808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect probably damaging
Transcript: ENSMUST00000044415
AA Change: L371R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: L371R

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
SMART Domains Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263

DomainStartEndE-ValueType
Pfam:Peptidase_M17 104 207 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166709
Meta Mutation Damage Score 0.9688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 93% (40/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,260,263 (GRCm39) noncoding transcript Het
Adam21 C T 12: 81,606,047 (GRCm39) V572I probably damaging Het
Arhgap32 T A 9: 32,063,315 (GRCm39) probably null Het
Carmil1 A T 13: 24,321,152 (GRCm39) I281N probably damaging Het
Cdh12 T A 15: 21,586,063 (GRCm39) probably null Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cntrob A G 11: 69,193,708 (GRCm39) L814P probably damaging Het
Csmd1 T C 8: 16,252,000 (GRCm39) N952S probably damaging Het
Cspg4 A G 9: 56,795,517 (GRCm39) Y1084C probably damaging Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Glis2 T C 16: 4,431,760 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,638 (GRCm39) E111G probably damaging Het
Kctd4 A G 14: 76,200,251 (GRCm39) D74G probably benign Het
Kif21b A T 1: 136,083,964 (GRCm39) K737M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama2 A T 10: 27,335,335 (GRCm39) N113K probably damaging Het
Ltv1 A G 10: 13,054,944 (GRCm39) S409P probably benign Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Myh6 A G 14: 55,201,415 (GRCm39) F95L probably benign Het
Ndufa4l2 A G 10: 127,351,289 (GRCm39) I27V probably benign Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Ocrl G A X: 47,027,180 (GRCm39) V416I probably benign Het
Or2g1 T G 17: 38,106,895 (GRCm39) C187G probably damaging Het
Padi2 C T 4: 140,645,048 (GRCm39) T94I probably benign Het
Pcca G A 14: 122,922,297 (GRCm39) E353K probably damaging Het
Pcdhgb2 T A 18: 37,824,810 (GRCm39) N600K probably damaging Het
Pex5l A G 3: 33,004,993 (GRCm39) L593P probably damaging Het
Rbp2 G A 9: 98,380,879 (GRCm39) D62N probably benign Het
Rock1 G T 18: 10,067,575 (GRCm39) N1319K probably benign Het
Ror1 A C 4: 100,269,314 (GRCm39) D384A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sacm1l A T 9: 123,381,855 (GRCm39) E152D probably benign Het
Seh1l T C 18: 67,908,087 (GRCm39) V3A probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Serpini1 T G 3: 75,521,942 (GRCm39) N144K probably damaging Het
Slc22a23 G A 13: 34,528,323 (GRCm39) T153I probably benign Het
Slfn8 A G 11: 82,908,280 (GRCm39) S88P probably benign Het
Stpg3 T A 2: 25,103,875 (GRCm39) M154L probably benign Het
Vmn2r115 G A 17: 23,564,146 (GRCm39) C106Y probably damaging Het
Washc3 C T 10: 88,055,122 (GRCm39) T112M probably benign Het
Zfp280d C T 9: 72,229,806 (GRCm39) T346M probably damaging 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
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
R8103:Npepl1 UTSW 2 173,953,002 (GRCm39) missense probably benign 0.00
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'- AGGTCAGCGATGCTCAGTTG -3'
(R):5'- GGTACTTCCCTGTGGCAATG -3'

Sequencing Primer
(F):5'- CTCAGTTGGAGCTGTATTCCTGAAC -3'
(R):5'- CCGTACCAGGGAAGACAGC -3'
Posted On 2015-03-25