Incidental Mutation 'IGL03028:Pitrm1'
ID 408278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitrm1
Ensembl Gene ENSMUSG00000021193
Gene Name pitrilysin metallepetidase 1
Synonyms 2310012C15Rik, Ntup1, PreP, MP-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03028
Quality Score
Status
Chromosome 13
Chromosomal Location 6598158-6630194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6624429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 831 (H831Y)
Ref Sequence ENSEMBL: ENSMUSP00000152229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000222485]
AlphaFold Q8K411
Predicted Effect probably benign
Transcript: ENSMUST00000021611
AA Change: H792Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: H792Y

DomainStartEndE-ValueType
Pfam:Peptidase_M16 93 188 1.8e-7 PFAM
Pfam:Peptidase_M16_C 244 431 4.7e-27 PFAM
M16C_associated 504 752 2.8e-114 SMART
Pfam:Peptidase_M16_C 771 958 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222061
Predicted Effect probably benign
Transcript: ENSMUST00000222485
AA Change: H831Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223492
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice show complete preweaning lethality. Heterozygotes show progressive ataxia, neurodegeneration, and accumulation of amyloid beta deposits. Mitochondria show impaired degradation rate of amyloid beta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Pitrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pitrm1 APN 13 6,618,702 (GRCm39) missense probably damaging 1.00
IGL01148:Pitrm1 APN 13 6,623,141 (GRCm39) missense probably benign
IGL01408:Pitrm1 APN 13 6,623,078 (GRCm39) missense probably damaging 1.00
IGL01557:Pitrm1 APN 13 6,602,720 (GRCm39) missense probably benign 0.37
IGL01803:Pitrm1 APN 13 6,629,471 (GRCm39) missense probably benign 0.00
IGL02111:Pitrm1 APN 13 6,623,181 (GRCm39) missense probably benign 0.45
IGL02217:Pitrm1 APN 13 6,617,377 (GRCm39) splice site probably benign
IGL02539:Pitrm1 APN 13 6,618,792 (GRCm39) missense probably benign 0.26
IGL02935:Pitrm1 APN 13 6,603,300 (GRCm39) missense probably damaging 1.00
IGL03112:Pitrm1 APN 13 6,615,044 (GRCm39) missense probably benign 0.10
FR4737:Pitrm1 UTSW 13 6,610,632 (GRCm39) critical splice acceptor site probably benign
FR4976:Pitrm1 UTSW 13 6,610,632 (GRCm39) critical splice acceptor site probably benign
R0078:Pitrm1 UTSW 13 6,625,068 (GRCm39) missense probably damaging 0.99
R0085:Pitrm1 UTSW 13 6,599,604 (GRCm39) splice site probably benign
R0089:Pitrm1 UTSW 13 6,605,675 (GRCm39) missense probably damaging 1.00
R0234:Pitrm1 UTSW 13 6,625,115 (GRCm39) nonsense probably null
R0234:Pitrm1 UTSW 13 6,625,115 (GRCm39) nonsense probably null
R0478:Pitrm1 UTSW 13 6,609,431 (GRCm39) missense probably damaging 0.99
R0496:Pitrm1 UTSW 13 6,618,750 (GRCm39) missense probably damaging 1.00
R0781:Pitrm1 UTSW 13 6,608,280 (GRCm39) missense probably benign 0.03
R1061:Pitrm1 UTSW 13 6,605,611 (GRCm39) missense probably damaging 0.99
R1110:Pitrm1 UTSW 13 6,608,280 (GRCm39) missense probably benign 0.03
R1170:Pitrm1 UTSW 13 6,602,780 (GRCm39) splice site probably benign
R1373:Pitrm1 UTSW 13 6,620,736 (GRCm39) missense probably benign 0.03
R1563:Pitrm1 UTSW 13 6,613,506 (GRCm39) missense possibly damaging 0.85
R1897:Pitrm1 UTSW 13 6,610,131 (GRCm39) missense possibly damaging 0.78
R1985:Pitrm1 UTSW 13 6,608,220 (GRCm39) missense probably damaging 1.00
R2075:Pitrm1 UTSW 13 6,605,419 (GRCm39) missense probably damaging 1.00
R2114:Pitrm1 UTSW 13 6,607,809 (GRCm39) missense probably damaging 1.00
R2115:Pitrm1 UTSW 13 6,607,809 (GRCm39) missense probably damaging 1.00
R2206:Pitrm1 UTSW 13 6,619,327 (GRCm39) missense probably damaging 1.00
R2207:Pitrm1 UTSW 13 6,619,327 (GRCm39) missense probably damaging 1.00
R2260:Pitrm1 UTSW 13 6,610,161 (GRCm39) missense probably damaging 1.00
R2568:Pitrm1 UTSW 13 6,625,128 (GRCm39) missense probably benign 0.15
R3409:Pitrm1 UTSW 13 6,628,517 (GRCm39) missense possibly damaging 0.81
R3756:Pitrm1 UTSW 13 6,608,271 (GRCm39) missense probably damaging 1.00
R4020:Pitrm1 UTSW 13 6,606,723 (GRCm39) missense probably damaging 1.00
R4327:Pitrm1 UTSW 13 6,629,809 (GRCm39) utr 3 prime probably benign
R4540:Pitrm1 UTSW 13 6,605,506 (GRCm39) critical splice donor site probably null
R4579:Pitrm1 UTSW 13 6,608,261 (GRCm39) missense probably benign 0.05
R4659:Pitrm1 UTSW 13 6,603,218 (GRCm39) missense probably benign 0.37
R4685:Pitrm1 UTSW 13 6,606,578 (GRCm39) missense probably benign 0.00
R4888:Pitrm1 UTSW 13 6,628,596 (GRCm39) missense probably damaging 1.00
R5072:Pitrm1 UTSW 13 6,603,226 (GRCm39) missense probably damaging 1.00
R5159:Pitrm1 UTSW 13 6,617,507 (GRCm39) missense probably benign 0.00
R5383:Pitrm1 UTSW 13 6,627,468 (GRCm39) missense probably damaging 1.00
R5470:Pitrm1 UTSW 13 6,603,306 (GRCm39) missense probably benign 0.07
R5606:Pitrm1 UTSW 13 6,610,101 (GRCm39) missense probably damaging 1.00
R6224:Pitrm1 UTSW 13 6,615,090 (GRCm39) missense probably damaging 1.00
R6302:Pitrm1 UTSW 13 6,610,097 (GRCm39) missense probably damaging 0.99
R6898:Pitrm1 UTSW 13 6,605,495 (GRCm39) missense probably damaging 1.00
R7021:Pitrm1 UTSW 13 6,628,593 (GRCm39) missense probably damaging 0.99
R7249:Pitrm1 UTSW 13 6,610,161 (GRCm39) missense probably damaging 1.00
R7256:Pitrm1 UTSW 13 6,606,633 (GRCm39) missense probably damaging 1.00
R7363:Pitrm1 UTSW 13 6,619,387 (GRCm39) missense probably benign
R7502:Pitrm1 UTSW 13 6,610,658 (GRCm39) missense probably damaging 0.97
R7647:Pitrm1 UTSW 13 6,605,444 (GRCm39) missense probably damaging 1.00
R8392:Pitrm1 UTSW 13 6,599,696 (GRCm39) missense probably benign 0.30
R8514:Pitrm1 UTSW 13 6,618,822 (GRCm39) critical splice donor site probably null
R8745:Pitrm1 UTSW 13 6,603,238 (GRCm39) missense probably damaging 1.00
R8772:Pitrm1 UTSW 13 6,628,596 (GRCm39) missense probably damaging 1.00
R8934:Pitrm1 UTSW 13 6,606,666 (GRCm39) missense probably benign 0.07
R9086:Pitrm1 UTSW 13 6,627,517 (GRCm39) missense probably benign
R9369:Pitrm1 UTSW 13 6,603,280 (GRCm39) missense probably benign 0.03
R9417:Pitrm1 UTSW 13 6,617,394 (GRCm39) missense possibly damaging 0.88
R9566:Pitrm1 UTSW 13 6,613,452 (GRCm39) missense probably benign 0.30
R9616:Pitrm1 UTSW 13 6,605,602 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02