Incidental Mutation 'R0069:Rnpepl1'
ID 33079
Institutional Source Beutler Lab
Gene Symbol Rnpepl1
Ensembl Gene ENSMUSG00000026269
Gene Name arginyl aminopeptidase (aminopeptidase B)-like 1
Synonyms 1110014H17Rik
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0069 (G1)
Quality Score 156
Status Validated (trace)
Chromosome 1
Chromosomal Location 92837697-92848307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92846620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 507 (N507K)
Ref Sequence ENSEMBL: ENSMUSP00000027487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]
AlphaFold G5E872
Predicted Effect possibly damaging
Transcript: ENSMUST00000027487
AA Change: N507K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: N507K

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
Pfam:Peptidase_M1 36 440 3e-58 PFAM
Leuk-A4-hydro_C 523 668 1.31e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178116
SMART Domains Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269

DomainStartEndE-ValueType
Pfam:Peptidase_M1 5 170 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178816
Predicted Effect probably benign
Transcript: ENSMUST00000179127
Predicted Effect probably benign
Transcript: ENSMUST00000179127
Predicted Effect unknown
Transcript: ENSMUST00000179837
AA Change: N77K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179854
Predicted Effect probably benign
Transcript: ENSMUST00000179993
Predicted Effect probably benign
Transcript: ENSMUST00000179531
Meta Mutation Damage Score 0.1149 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript Het
Other mutations in Rnpepl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Rnpepl1 APN 1 92,843,621 (GRCm39) missense possibly damaging 0.69
IGL01291:Rnpepl1 APN 1 92,847,468 (GRCm39) missense probably benign
IGL02266:Rnpepl1 APN 1 92,844,611 (GRCm39) missense probably damaging 1.00
IGL02481:Rnpepl1 APN 1 92,843,629 (GRCm39) missense probably damaging 1.00
IGL02483:Rnpepl1 APN 1 92,843,629 (GRCm39) missense probably damaging 1.00
IGL03377:Rnpepl1 APN 1 92,846,953 (GRCm39) missense probably benign 0.01
ANU05:Rnpepl1 UTSW 1 92,847,468 (GRCm39) missense probably benign
R0409:Rnpepl1 UTSW 1 92,843,582 (GRCm39) missense probably damaging 1.00
R0479:Rnpepl1 UTSW 1 92,846,587 (GRCm39) unclassified probably benign
R1155:Rnpepl1 UTSW 1 92,844,609 (GRCm39) missense probably damaging 1.00
R1170:Rnpepl1 UTSW 1 92,846,917 (GRCm39) missense possibly damaging 0.56
R1397:Rnpepl1 UTSW 1 92,844,881 (GRCm39) missense probably damaging 1.00
R1601:Rnpepl1 UTSW 1 92,844,944 (GRCm39) missense possibly damaging 0.95
R2184:Rnpepl1 UTSW 1 92,844,545 (GRCm39) missense probably benign 0.43
R2187:Rnpepl1 UTSW 1 92,844,617 (GRCm39) missense probably null 1.00
R2211:Rnpepl1 UTSW 1 92,844,102 (GRCm39) missense probably damaging 1.00
R2902:Rnpepl1 UTSW 1 92,844,102 (GRCm39) missense probably damaging 1.00
R3105:Rnpepl1 UTSW 1 92,844,102 (GRCm39) missense probably damaging 1.00
R3196:Rnpepl1 UTSW 1 92,844,881 (GRCm39) missense probably damaging 1.00
R3439:Rnpepl1 UTSW 1 92,844,662 (GRCm39) missense possibly damaging 0.94
R4887:Rnpepl1 UTSW 1 92,842,835 (GRCm39) missense probably damaging 1.00
R4966:Rnpepl1 UTSW 1 92,844,483 (GRCm39) missense probably damaging 1.00
R5212:Rnpepl1 UTSW 1 92,839,045 (GRCm39) missense probably benign 0.03
R5214:Rnpepl1 UTSW 1 92,847,001 (GRCm39) missense probably benign 0.01
R5385:Rnpepl1 UTSW 1 92,844,914 (GRCm39) missense probably damaging 1.00
R5655:Rnpepl1 UTSW 1 92,847,032 (GRCm39) missense probably damaging 1.00
R5694:Rnpepl1 UTSW 1 92,846,663 (GRCm39) missense probably benign 0.03
R5940:Rnpepl1 UTSW 1 92,845,434 (GRCm39) missense probably damaging 1.00
R6046:Rnpepl1 UTSW 1 92,844,543 (GRCm39) missense probably damaging 1.00
R6086:Rnpepl1 UTSW 1 92,845,403 (GRCm39) missense probably damaging 1.00
R6104:Rnpepl1 UTSW 1 92,843,606 (GRCm39) missense probably benign
R6349:Rnpepl1 UTSW 1 92,847,563 (GRCm39) missense probably damaging 1.00
R7381:Rnpepl1 UTSW 1 92,846,917 (GRCm39) missense possibly damaging 0.56
R7402:Rnpepl1 UTSW 1 92,847,372 (GRCm39) missense probably benign 0.01
R7474:Rnpepl1 UTSW 1 92,846,694 (GRCm39) missense probably benign 0.14
R7714:Rnpepl1 UTSW 1 92,844,890 (GRCm39) missense probably damaging 1.00
R9408:Rnpepl1 UTSW 1 92,845,424 (GRCm39) missense probably benign 0.19
R9566:Rnpepl1 UTSW 1 92,847,468 (GRCm39) missense
R9591:Rnpepl1 UTSW 1 92,847,309 (GRCm39) missense probably damaging 1.00
R9773:Rnpepl1 UTSW 1 92,847,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGATCCATTGGTCACCAACCCAAG -3'
(R):5'- TCCAGGAAGAGTGCTGTCTGGAAG -3'

Sequencing Primer
(F):5'- ACTTCTAGGGAACTGCTCATAGTC -3'
(R):5'- CTGGAAGGTCCTCCATTTGG -3'
Posted On 2013-05-09