Incidental Mutation 'R1601:Rnpepl1'
ID 176121
Institutional Source Beutler Lab
Gene Symbol Rnpepl1
Ensembl Gene ENSMUSG00000026269
Gene Name arginyl aminopeptidase (aminopeptidase B)-like 1
Synonyms 1110014H17Rik
MMRRC Submission 039638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1601 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92837697-92848307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92844944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 412 (D412V)
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: D412V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: D412V

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: ENSMUST00000179127
AA Change: D77V
Predicted Effect unknown
Transcript: ENSMUST00000179837
AA Change: D25V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179854
Predicted Effect probably benign
Transcript: ENSMUST00000179993
Predicted Effect probably benign
Transcript: ENSMUST00000179531
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Adgra2 T C 8: 27,600,046 (GRCm39) probably null Het
Adgrb2 T C 4: 129,886,630 (GRCm39) S257P probably benign Het
Adgre1 A G 17: 57,748,353 (GRCm39) K518E probably benign Het
Anxa7 A T 14: 20,514,683 (GRCm39) Y64* probably null Het
Arhgef7 A G 8: 11,832,638 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,892,566 (GRCm39) Y243* probably null Het
Cdk14 C T 5: 5,185,378 (GRCm39) V176M probably damaging Het
Cnbd2 A G 2: 156,175,551 (GRCm39) E54G probably damaging Het
Crx T C 7: 15,601,736 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,611 (GRCm39) F511L possibly damaging Het
Ddx11 A G 17: 66,457,380 (GRCm39) M810V probably damaging Het
Dock10 T C 1: 80,527,519 (GRCm39) T1077A probably benign Het
Dop1a G A 9: 86,418,303 (GRCm39) D2011N probably damaging Het
Ehhadh T A 16: 21,585,158 (GRCm39) H241L probably benign Het
Elp1 T A 4: 56,774,756 (GRCm39) K740* probably null Het
Enah A T 1: 181,747,185 (GRCm39) L523* probably null Het
Fabp3 T C 4: 130,202,641 (GRCm39) L24P probably benign Het
Fat2 A G 11: 55,172,836 (GRCm39) S2626P probably benign Het
Fbxo4 A G 15: 3,998,447 (GRCm39) M337T possibly damaging Het
Gas6 G T 8: 13,515,786 (GRCm39) T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hrh4 G A 18: 13,148,955 (GRCm39) V106I possibly damaging Het
Ido2 G T 8: 25,066,205 (GRCm39) H20Q possibly damaging Het
Itga10 G T 3: 96,560,974 (GRCm39) R613L possibly damaging Het
Itsn2 T C 12: 4,708,452 (GRCm39) S836P probably benign Het
Kcng3 A T 17: 83,895,768 (GRCm39) C233S probably damaging Het
Kdm3b A G 18: 34,941,784 (GRCm39) Q625R probably damaging Het
Kidins220 A G 12: 25,055,087 (GRCm39) S553G probably benign Het
Krt82 A T 15: 101,453,588 (GRCm39) I266N probably damaging Het
Lama5 A T 2: 179,839,538 (GRCm39) L736Q probably damaging Het
Lnx2 A G 5: 146,970,329 (GRCm39) C138R probably damaging Het
Mcm5 T C 8: 75,845,982 (GRCm39) C397R possibly damaging Het
Me1 A C 9: 86,560,065 (GRCm39) Y52D probably damaging Het
Muc4 C A 16: 32,575,875 (GRCm39) probably benign Het
Myo18b G T 5: 113,019,364 (GRCm39) Q638K possibly damaging Het
Ncapd2 A G 6: 125,162,735 (GRCm39) L170P probably damaging Het
Neb A T 2: 52,177,264 (GRCm39) L1359* probably null Het
Nomo1 C A 7: 45,696,379 (GRCm39) S299Y probably damaging Het
Onecut1 A T 9: 74,769,973 (GRCm39) H132L probably benign Het
Or2b2 C A 13: 21,887,396 (GRCm39) T75K probably damaging Het
Or2w3 A T 11: 58,556,903 (GRCm39) R173W probably damaging Het
Or4e2 A C 14: 52,687,899 (GRCm39) T10P probably benign Het
Or7a41 A T 10: 78,871,338 (GRCm39) Y236F possibly damaging Het
Paqr3 A G 5: 97,259,248 (GRCm39) Y19H probably benign Het
Prdx5 T C 19: 6,884,926 (GRCm39) H140R possibly damaging Het
Prox1 T C 1: 189,893,203 (GRCm39) D414G probably damaging Het
Ptprh T G 7: 4,555,637 (GRCm39) E774A probably damaging Het
Sars2 C T 7: 28,448,396 (GRCm39) T259M probably benign Het
Sbf2 T C 7: 109,939,283 (GRCm39) probably null Het
Sbno2 C T 10: 79,896,326 (GRCm39) R898H probably damaging Het
Smox C A 2: 131,362,094 (GRCm39) T172N probably damaging Het
Taf7l2 T C 10: 115,949,521 (GRCm39) S2G probably damaging Het
Tdrd9 C T 12: 111,989,687 (GRCm39) R341* probably null Het
Thrap3 C G 4: 126,073,894 (GRCm39) G284A probably damaging Het
Tmtc4 A G 14: 123,182,238 (GRCm39) V271A probably benign Het
Trank1 A G 9: 111,202,545 (GRCm39) T1637A probably damaging Het
Tspan5 T A 3: 138,602,596 (GRCm39) I166N probably damaging Het
Vps13b T C 15: 35,642,582 (GRCm39) V1398A probably benign Het
Xbp1 C T 11: 5,471,975 (GRCm39) R34W probably 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
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'- TTAGGCACCAATTGCAAGGGGCAC -3'
(R):5'- TGGAAACCAGTTCTCAGACCCTGTG -3'

Sequencing Primer
(F):5'- CTAGCCTCCAGCTTGACAG -3'
(R):5'- GCACCCGAGAGGTTTTCC -3'
Posted On 2014-04-24