Incidental Mutation 'R8139:Xpnpep3'
ID632439
Institutional Source Beutler Lab
Gene Symbol Xpnpep3
Ensembl Gene ENSMUSG00000022401
Gene NameX-prolyl aminopeptidase 3, mitochondrial
SynonymsE430012M05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8139 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location81400138-81457482 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81448459 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 399 (L399Q)
Ref Sequence ENSEMBL: ENSMUSP00000132822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000163754] [ENSMUST00000165258]
Predicted Effect probably benign
Transcript: ENSMUST00000041609
SMART Domains Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 366 1.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163754
AA Change: L399Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: L399Q

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 481 1.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165258
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.2%
Validation Efficiency 100% (84/84)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik G T X: 70,394,514 Q58K possibly damaging Het
9130409I23Rik A G 1: 181,054,793 D40G probably damaging Het
Aamdc T C 7: 97,565,243 M42V probably benign Het
Abca6 T A 11: 110,184,133 Q1368L probably damaging Het
Best3 G A 10: 117,004,426 G254R probably damaging Het
Cacna1h A T 17: 25,383,723 I1478N probably damaging Het
Ccdc113 T A 8: 95,558,738 M350K possibly damaging Het
Cdc42bpa A T 1: 180,069,319 H389L probably damaging Het
Cnn3 G T 3: 121,455,069 M208I probably damaging Het
Col11a1 A G 3: 114,097,049 D345G unknown Het
Dnah14 G T 1: 181,755,288 V3131F probably damaging Het
Dst T A 1: 34,191,852 M2842K probably benign Het
Dus3l C T 17: 56,767,058 Q211* probably null Het
Eftud2 A G 11: 102,867,859 F171S probably benign Het
Elac2 T C 11: 64,980,614 I117T probably benign Het
Fam13b A G 18: 34,473,633 C302R possibly damaging Het
Fbxl5 G A 5: 43,758,745 Q442* probably null Het
Fhdc1 A G 3: 84,451,483 S370P probably damaging Het
Gm35911 A G 5: 99,924,926 I111V probably benign Het
Gtf3c6 T C 10: 40,257,473 probably null Het
I830077J02Rik A G 3: 105,927,998 V21A probably benign Het
Inf2 G T 12: 112,601,640 E209* probably null Het
Irs1 A T 1: 82,289,739 M252K probably damaging Het
Kcng3 C A 17: 83,631,087 V178L probably damaging Het
Kif16b A C 2: 142,901,365 S3A probably benign Het
Kit T C 5: 75,652,805 M884T probably damaging Het
Kmt2a A T 9: 44,819,290 probably benign Het
Kptn T C 7: 16,123,976 I243T probably benign Het
Loxhd1 G A 18: 77,380,496 E947K possibly damaging Het
Lyl1 A T 8: 84,702,847 I62L probably damaging Het
Mmp24 C T 2: 155,814,045 R468* probably null Het
Mrvi1 A G 7: 110,899,672 probably null Het
Mtx2 G A 2: 74,876,370 D230N probably benign Het
Ndufa5 A T 6: 24,522,758 Y28* probably null Het
Notch4 G T 17: 34,584,800 E1515* probably null Het
Nrxn3 A G 12: 90,204,664 N923S probably benign Het
Ogfod2 C T 5: 124,113,475 T116M possibly damaging Het
Olfr1220 A G 2: 89,097,843 V28A probably benign Het
Olfr492 T A 7: 108,322,906 T257S probably benign Het
Olfr835 A T 9: 19,035,575 I151F probably benign Het
Olfr846 A C 9: 19,361,208 V49G probably damaging Het
Oosp1 T C 19: 11,667,754 E182G possibly damaging Het
Oxnad1 C A 14: 32,092,091 T47K possibly damaging Het
Pcdha5 A G 18: 36,962,738 M767V possibly damaging Het
Pcnx3 A T 19: 5,665,745 H1444Q probably benign Het
Pde4dip G T 3: 97,696,993 Q2224K probably benign Het
Pgr A T 9: 8,956,340 H763L possibly damaging Het
Plec T C 15: 76,174,310 D3809G probably damaging Het
Ppfia1 A G 7: 144,520,693 S155P probably damaging Het
Ppfia4 A G 1: 134,300,528 V1090A probably benign Het
Ptgdr T C 14: 44,858,685 E190G probably benign Het
Rhbdd2 T A 5: 135,636,335 C173* probably null Het
Rhobtb1 C A 10: 69,266,290 P134T probably damaging Het
Slc25a36 A T 9: 97,080,452 F161L probably benign Het
Slc5a11 A G 7: 123,269,976 T596A probably benign Het
Slco1a6 T C 6: 142,089,900 Y566C probably damaging Het
Snx15 T G 19: 6,119,915 K321T probably damaging Het
Snx15 T C 19: 6,119,916 K321E probably damaging Het
Srebf2 C T 15: 82,178,765 R468C probably damaging Het
Syt8 T C 7: 142,438,268 I32T probably benign Het
Thumpd1 T C 7: 119,720,585 N53D possibly damaging Het
Timm21 T C 18: 84,951,138 T54A probably benign Het
Tmed10 A G 12: 85,344,317 V149A probably damaging Het
Tmem108 T A 9: 103,499,885 M122L probably benign Het
Tram1l1 A G 3: 124,321,787 I199V probably benign Het
Tspan8 A G 10: 115,839,897 N156S probably benign Het
Vars T C 17: 35,011,504 V521A probably benign Het
Vmn2r54 G T 7: 12,615,816 T613N possibly damaging Het
Vps13b T A 15: 35,607,272 L1117* probably null Het
Vps33a T C 5: 123,533,952 K451R probably benign Het
Vsig10l T C 7: 43,463,729 I35T probably benign Het
Zfp438 T C 18: 5,214,013 E315G probably benign Het
Zfp467 C T 6: 48,439,334 G128D probably damaging Het
Other mutations in Xpnpep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Xpnpep3 APN 15 81436768 missense possibly damaging 0.93
IGL01292:Xpnpep3 APN 15 81427498 missense probably damaging 1.00
IGL02219:Xpnpep3 APN 15 81427456 missense probably damaging 1.00
zebra UTSW 15 81430842 missense probably damaging 1.00
BB006:Xpnpep3 UTSW 15 81427425 missense probably damaging 0.99
BB016:Xpnpep3 UTSW 15 81427425 missense probably damaging 0.99
FR4449:Xpnpep3 UTSW 15 81427422 missense possibly damaging 0.96
R0069:Xpnpep3 UTSW 15 81430798 missense probably benign 0.18
R0069:Xpnpep3 UTSW 15 81430798 missense probably benign 0.18
R0304:Xpnpep3 UTSW 15 81430714 missense probably damaging 1.00
R0518:Xpnpep3 UTSW 15 81427492 missense possibly damaging 0.94
R0521:Xpnpep3 UTSW 15 81427492 missense possibly damaging 0.94
R0639:Xpnpep3 UTSW 15 81430837 missense probably benign 0.32
R0725:Xpnpep3 UTSW 15 81430842 missense probably damaging 1.00
R1674:Xpnpep3 UTSW 15 81430767 missense probably benign
R1840:Xpnpep3 UTSW 15 81427353 missense probably benign 0.00
R2571:Xpnpep3 UTSW 15 81450926 missense probably damaging 1.00
R3956:Xpnpep3 UTSW 15 81451029 splice site probably benign
R4242:Xpnpep3 UTSW 15 81427656 missense probably benign 0.05
R4997:Xpnpep3 UTSW 15 81448376 nonsense probably null
R5635:Xpnpep3 UTSW 15 81436769 missense probably benign 0.40
R5789:Xpnpep3 UTSW 15 81415864 intron probably benign
R6190:Xpnpep3 UTSW 15 81438099 missense probably benign 0.00
R7006:Xpnpep3 UTSW 15 81442448 missense probably damaging 1.00
R7295:Xpnpep3 UTSW 15 81414534 missense probably damaging 0.99
R7353:Xpnpep3 UTSW 15 81430887 missense probably benign 0.42
R7929:Xpnpep3 UTSW 15 81427425 missense probably damaging 0.99
R8434:Xpnpep3 UTSW 15 81427594 missense possibly damaging 0.88
Z1176:Xpnpep3 UTSW 15 81427432 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGCTGGCTGGTAAAACG -3'
(R):5'- AGAATGTGCTGCCATCTTCTG -3'

Sequencing Primer
(F):5'- TGGCTGGTAAAACGCTGCG -3'
(R):5'- CTTCTGGCAAAAAGAAGTACTGACTC -3'
Posted On2020-06-30