Incidental Mutation 'R6104:Rnpepl1'
ID 485406
Institutional Source Beutler Lab
Gene Symbol Rnpepl1
Ensembl Gene ENSMUSG00000026269
Gene Name arginyl aminopeptidase (aminopeptidase B)-like 1
Synonyms 1110014H17Rik
MMRRC Submission 044254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6104 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 92837697-92848307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92843606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 242 (H242R)
Ref Sequence ENSEMBL: ENSMUSP00000027487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]
AlphaFold G5E872
Predicted Effect probably benign
Transcript: ENSMUST00000027487
AA Change: H242R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: H242R

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 unknown
Transcript: ENSMUST00000179993
AA Change: H156R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179854
Predicted Effect probably benign
Transcript: ENSMUST00000179127
Predicted Effect probably benign
Transcript: ENSMUST00000179531
Predicted Effect probably benign
Transcript: ENSMUST00000179837
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A T 4: 106,613,094 (GRCm39) L327Q probably damaging Het
Atrip C T 9: 108,894,632 (GRCm39) A432T possibly damaging Het
Chd6 T C 2: 160,856,052 (GRCm39) T736A probably damaging Het
Cyp1b1 T A 17: 80,017,634 (GRCm39) Y507F probably damaging Het
Desi2 G A 1: 178,077,018 (GRCm39) R174H probably benign Het
Dop1a A T 9: 86,402,860 (GRCm39) K1351N possibly damaging Het
Fads2b T A 2: 85,338,693 (GRCm39) K149* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fzd2 T C 11: 102,497,161 (GRCm39) I535T probably damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Il17a A G 1: 20,802,498 (GRCm39) Y69C probably damaging Het
Itgam A G 7: 127,715,474 (GRCm39) D938G possibly damaging Het
Kmt2c T C 5: 25,504,127 (GRCm39) D316G probably benign Het
Lrba C A 3: 86,261,099 (GRCm39) A1485E probably damaging Het
Marf1 G A 16: 13,935,319 (GRCm39) T1483I probably damaging Het
Myo18b T C 5: 113,022,157 (GRCm39) probably benign Het
Myo5b T A 18: 74,833,750 (GRCm39) I842N probably benign Het
Nckap5l C T 15: 99,321,869 (GRCm39) S1092N probably benign Het
Nelfcd T C 2: 174,265,250 (GRCm39) S273P probably damaging Het
Nt5c1b A G 12: 10,422,955 (GRCm39) N83D probably damaging Het
Oas3 T A 5: 120,899,758 (GRCm39) I709F unknown Het
Or1p1 C A 11: 74,180,192 (GRCm39) T240N probably damaging Het
Or8i2 T C 2: 86,852,057 (GRCm39) Y277C probably damaging Het
Pogz A G 3: 94,787,342 (GRCm39) D1310G probably benign Het
Ppfia1 A G 7: 144,045,311 (GRCm39) S949P possibly damaging Het
Pxylp1 A C 9: 96,706,800 (GRCm39) F461V possibly damaging Het
Rcn3 A G 7: 44,740,947 (GRCm39) Y54H probably damaging Het
Rps6ka5 A T 12: 100,519,407 (GRCm39) D735E possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Scn11a A G 9: 119,624,744 (GRCm39) I526T probably damaging Het
Slc29a3 A G 10: 60,556,781 (GRCm39) V211A possibly damaging Het
Syt10 A T 15: 89,711,067 (GRCm39) H155Q probably benign Het
Taar8b A T 10: 23,968,135 (GRCm39) S20T probably damaging Het
Tenm4 A T 7: 96,486,496 (GRCm39) I988F probably damaging Het
Thoc2l T A 5: 104,666,084 (GRCm39) I202K probably damaging Het
Tlr3 A G 8: 45,856,130 (GRCm39) S17P probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Topaz1 A G 9: 122,578,931 (GRCm39) T614A probably benign Het
Vmn2r80 A C 10: 78,984,854 (GRCm39) N69H probably benign Het
Xylb T A 9: 119,193,573 (GRCm39) *66R probably null Het
Ylpm1 G A 12: 85,076,404 (GRCm39) R1043H probably benign Het
Ythdf3 G A 3: 16,259,325 (GRCm39) V491I possibly damaging 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
R0069:Rnpepl1 UTSW 1 92,846,620 (GRCm39) missense possibly damaging 0.91
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
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'- AAGGTCCCCTGTTACAGACAAGG -3'
(R):5'- GCACTGGATGGGTCAGTTAG -3'

Sequencing Primer
(F):5'- TTACAGACAAGGGGGTCCTCTG -3'
(R):5'- TCTGAGGACAGTGGGTGCAG -3'
Posted On 2017-08-16