Incidental Mutation 'R7881:Npepl1'
ID 608739
Institutional Source Beutler Lab
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
MMRRC Submission 045933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7881 (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 G at 173962387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 351 (D351G)
Ref Sequence ENSEMBL: ENSMUSP00000042808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect probably damaging
Transcript: ENSMUST00000044415
AA Change: D351G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: D351G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,685 (GRCm39) N1030S possibly damaging Het
4930507D05Rik A G 10: 62,285,303 (GRCm39) H9R unknown Het
Anks1b T A 10: 90,802,880 (GRCm39) S398T probably benign Het
Bbox1 T A 2: 110,122,871 (GRCm39) K139N probably benign Het
Birc6 C A 17: 74,948,666 (GRCm39) H3047N probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta1 G A 4: 151,920,333 (GRCm39) S18F probably damaging Het
Ccnb1ip1 T C 14: 51,031,277 (GRCm39) Y12C possibly damaging Het
Celsr3 G A 9: 108,705,271 (GRCm39) A585T probably benign Het
Col6a4 T C 9: 105,957,497 (GRCm39) N109S probably benign Het
Crisp4 A T 1: 18,198,893 (GRCm39) D180E probably benign Het
Dmxl1 T A 18: 49,997,450 (GRCm39) M546K probably damaging Het
Dnah11 C T 12: 117,951,237 (GRCm39) V3024I probably benign Het
Dnah2 T C 11: 69,322,064 (GRCm39) D3752G probably damaging Het
Dram1 G T 10: 88,160,609 (GRCm39) D237E probably benign Het
Ehbp1l1 T C 19: 5,769,426 (GRCm39) N626D probably benign Het
Elavl1 T G 8: 4,361,763 (GRCm39) N3T probably damaging Het
Fam184a A G 10: 53,574,589 (GRCm39) V340A probably benign Het
Fer1l5 C T 1: 36,446,117 (GRCm39) T876M not run Het
Foxp2 T A 6: 15,409,888 (GRCm39) V471E unknown Het
Fstl5 G A 3: 76,443,605 (GRCm39) G317R probably damaging Het
Gm32742 T C 9: 51,060,414 (GRCm39) E963G possibly damaging Het
Gpbp1 A T 13: 111,575,733 (GRCm39) S257T possibly damaging Het
Gsdmc4 C T 15: 63,769,568 (GRCm39) C218Y possibly damaging Het
Hmg20b T C 10: 81,182,442 (GRCm39) H298R probably damaging Het
Igf2r A T 17: 12,967,591 (GRCm39) C72S probably benign Het
Kcnip1 A G 11: 33,583,206 (GRCm39) M193T probably damaging Het
Khdc1c G T 1: 21,439,899 (GRCm39) C150F probably benign Het
Kmt2b A G 7: 30,279,208 (GRCm39) S1485P probably damaging Het
Lnpep A G 17: 17,787,001 (GRCm39) S533P probably benign Het
Megf8 T A 7: 25,040,060 (GRCm39) V997E possibly damaging Het
Mob2 T C 7: 141,563,177 (GRCm39) Y94C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nrg1 G A 8: 32,328,352 (GRCm39) Q213* probably null Het
Nrp2 A G 1: 62,810,990 (GRCm39) D677G probably benign Het
Or11h7 A G 14: 50,890,904 (GRCm39) E70G probably damaging Het
Or2b4 G T 17: 38,116,320 (GRCm39) G95C probably damaging Het
Or56a3 G T 7: 104,735,780 (GRCm39) V286F probably damaging Het
Or5aq7 G T 2: 86,938,401 (GRCm39) T110K probably damaging Het
Or5m3b C A 2: 85,871,814 (GRCm39) Q52K probably benign Het
Or8c8 T A 9: 38,165,406 (GRCm39) M228K probably benign Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phaf1 C A 8: 105,976,084 (GRCm39) T347N probably benign Het
Prune2 G A 19: 17,100,393 (GRCm39) V1966I possibly damaging Het
Ptch2 A G 4: 116,967,585 (GRCm39) H751R probably benign Het
Ptges2 T A 2: 32,292,243 (GRCm39) M353K probably damaging Het
Pum3 G A 19: 27,373,728 (GRCm39) Q564* probably null Het
Qtrt1 A G 9: 21,330,637 (GRCm39) D279G probably damaging Het
Rftn1 C T 17: 50,354,463 (GRCm39) V300I probably benign Het
Robo2 T C 16: 73,717,585 (GRCm39) T1172A probably benign Het
Sdc3 A G 4: 130,544,244 (GRCm39) D74G unknown Het
Setd1b A G 5: 123,290,336 (GRCm39) M768V unknown Het
Shld2 A T 14: 33,989,724 (GRCm39) M394K possibly damaging Het
Siglech A T 7: 55,422,289 (GRCm39) H298L probably benign Het
Sipa1 A T 19: 5,701,704 (GRCm39) L977Q probably damaging Het
Slc9c1 G A 16: 45,403,332 (GRCm39) V800I probably benign Het
Spata31e1 A G 13: 49,943,547 (GRCm39) S44P possibly damaging Het
Spata31f1a C T 4: 42,851,586 (GRCm39) C190Y probably benign Het
Tbc1d8 C T 1: 39,425,104 (GRCm39) R582Q probably damaging Het
Tmem247 T A 17: 87,229,728 (GRCm39) F190I probably damaging Het
Trim42 C A 9: 97,245,070 (GRCm39) A577S possibly damaging Het
Ubiad1 G A 4: 148,528,726 (GRCm39) T61I probably benign Het
Usp40 G A 1: 87,923,435 (GRCm39) Q279* probably null Het
Usp48 A G 4: 137,360,766 (GRCm39) N733S probably benign Het
Vmn2r83 A T 10: 79,314,261 (GRCm39) I170F probably benign Het
Xkr4 G A 1: 3,286,487 (GRCm39) P568S probably damaging Het
Zc3h7b T C 15: 81,664,679 (GRCm39) W513R probably damaging Het
Zfp40 T C 17: 23,410,440 (GRCm39) probably benign Het
Zfp652 T A 11: 95,640,935 (GRCm39) S287T possibly damaging Het
Znrf3 G A 11: 5,394,533 (GRCm39) A49V unknown 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
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'- AGGTGTCTCATAGTCCTGGGAG -3'
(R):5'- GTACTTCCCTGTGGCAATGC -3'

Sequencing Primer
(F):5'- TCCTGGGAGGGCACGTG -3'
(R):5'- ATGGGTTCCGGTCCAACC -3'
Posted On 2019-12-20