Incidental Mutation 'R4688:Npepl1'
ID 353819
Institutional Source Beutler Lab
Gene Symbol Npepl1
Ensembl Gene ENSMUSG00000039263
Gene Name aminopeptidase-like 1
Synonyms
MMRRC Submission 041939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R4688 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 173951904-173964495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173956235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 139 (I139F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044415]
AlphaFold Q6NSR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000044415
AA Change: I215F

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: I215F

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Pfam:Peptidase_M17 179 484 1.9e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125502
AA Change: I139F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263
AA Change: I139F

DomainStartEndE-ValueType
Pfam:Peptidase_M17 104 207 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153957
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Atxn7 T A 14: 14,089,288 (GRCm38) M268K probably benign Het
Bms1 G A 6: 118,369,667 (GRCm39) R934C probably damaging Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or4b1d T A 2: 89,969,343 (GRCm39) N47Y possibly damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Pros1 T C 16: 62,709,370 (GRCm39) probably null Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptbp1 G T 10: 79,692,342 (GRCm39) V5F possibly damaging Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* probably null 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
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'- TTAATCATGGGAGGCACAGC -3'
(R):5'- TCCTAAGCTCTGGTCTTGGC -3'

Sequencing Primer
(F):5'- CCACTGGCCCCAAGGTAGTTC -3'
(R):5'- GGACCCAGGCTGATTCCATTC -3'
Posted On 2015-10-21