Incidental Mutation 'R5650:Npepl1'
ID 441350
Institutional Source Beutler Lab
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
MMRRC Submission 043296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173963329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 454 (F454L)
Ref Sequence ENSEMBL: ENSMUSP00000042808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000044415
AA Change: F454L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: F454L

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: ENSMUST00000153957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166709
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cep76 A T 18: 67,758,136 (GRCm39) C385S probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
H4c4 A T 13: 23,765,778 (GRCm39) N65I possibly damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Mip A T 10: 128,061,934 (GRCm39) I62F possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rab33b T C 3: 51,400,837 (GRCm39) Y104H probably damaging Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly 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
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
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'- TAGGTCAGAGCCCACTTCTG -3'
(R):5'- ACAGCAGCTACTCTGTTCCC -3'

Sequencing Primer
(F):5'- GAGCCCACTTCTGCCACC -3'
(R):5'- CTGTTCCCAGGGATGAGGAG -3'
Posted On 2016-11-08