Incidental Mutation 'IGL01148:Pitrm1'
ID52635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitrm1
Ensembl Gene ENSMUSG00000021193
Gene Namepitrilysin metallepetidase 1
SynonymsNtup1, PreP, 2310012C15Rik, MP-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01148
Quality Score
Status
Chromosome13
Chromosomal Location6548149-6580515 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6573105 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 801 (R801G)
Ref Sequence ENSEMBL: ENSMUSP00000152229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000222485]
Predicted Effect probably benign
Transcript: ENSMUST00000021611
AA Change: R762G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: R762G

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: R801G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,172 E309G probably benign Het
Acap1 A T 11: 69,890,903 C64* probably null Het
Ccng2 G A 5: 93,270,887 D124N probably damaging Het
Cttnbp2 G A 6: 18,382,818 P1317L probably damaging Het
Dsg1a T A 18: 20,320,925 V29E probably damaging Het
Exoc6b T C 6: 84,908,226 K244E probably benign Het
Fastkd5 A G 2: 130,614,685 F662L probably benign Het
Fbxl18 T C 5: 142,885,825 M488V probably damaging Het
Gas2l3 C T 10: 89,413,504 G584D probably benign Het
Gm28042 T C 2: 120,039,038 F405L possibly damaging Het
Gm5415 A G 1: 32,545,654 S392P possibly damaging Het
Gtf3c2 T C 5: 31,159,824 K635E probably damaging Het
H2-Q2 A G 17: 35,342,678 Y48C probably damaging Het
Hddc2 T C 10: 31,316,334 I78T probably damaging Het
Hspg2 T A 4: 137,546,658 M2708K probably benign Het
Ift88 T C 14: 57,439,732 S119P probably benign Het
Mta2 T C 19: 8,948,304 C388R probably damaging Het
Mymx G T 17: 45,601,668 probably benign Het
Naga A G 15: 82,330,660 Y366H possibly damaging Het
Nlrp9a A G 7: 26,557,581 E208G probably damaging Het
Nr4a2 C T 2: 57,111,971 V94M probably benign Het
Olfr1232 G T 2: 89,326,024 T52K probably benign Het
Osbpl8 G T 10: 111,276,563 probably benign Het
Pitpnb T A 5: 111,338,356 V42D probably damaging Het
Pthlh G A 6: 147,252,575 T174M probably benign Het
Sco2 T C 15: 89,371,721 I243M probably benign Het
Sema5a G A 15: 32,681,495 V907M probably benign Het
Stac2 T A 11: 98,043,561 K106* probably null Het
Tas2r105 T A 6: 131,686,852 R204S probably damaging Het
Tgm5 A G 2: 121,046,675 probably null Het
Trpm1 A G 7: 64,243,564 I939V probably damaging Het
Ttll11 T A 2: 35,784,193 N574I probably damaging Het
Zfand3 A T 17: 30,135,400 T64S probably benign Het
Zfyve26 G A 12: 79,260,870 H312Y probably benign Het
Other mutations in Pitrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pitrm1 APN 13 6568666 missense probably damaging 1.00
IGL01408:Pitrm1 APN 13 6573042 missense probably damaging 1.00
IGL01557:Pitrm1 APN 13 6552684 missense probably benign 0.37
IGL01803:Pitrm1 APN 13 6579435 missense probably benign 0.00
IGL02111:Pitrm1 APN 13 6573145 missense probably benign 0.45
IGL02217:Pitrm1 APN 13 6567341 splice site probably benign
IGL02539:Pitrm1 APN 13 6568756 missense probably benign 0.26
IGL02935:Pitrm1 APN 13 6553264 missense probably damaging 1.00
IGL03028:Pitrm1 APN 13 6574393 missense probably benign 0.00
IGL03112:Pitrm1 APN 13 6565008 missense probably benign 0.10
FR4737:Pitrm1 UTSW 13 6560596 critical splice acceptor site probably benign
FR4976:Pitrm1 UTSW 13 6560596 critical splice acceptor site probably benign
R0078:Pitrm1 UTSW 13 6575032 missense probably damaging 0.99
R0085:Pitrm1 UTSW 13 6549568 splice site probably benign
R0089:Pitrm1 UTSW 13 6555639 missense probably damaging 1.00
R0234:Pitrm1 UTSW 13 6575079 nonsense probably null
R0234:Pitrm1 UTSW 13 6575079 nonsense probably null
R0478:Pitrm1 UTSW 13 6559395 missense probably damaging 0.99
R0496:Pitrm1 UTSW 13 6568714 missense probably damaging 1.00
R0781:Pitrm1 UTSW 13 6558244 missense probably benign 0.03
R1061:Pitrm1 UTSW 13 6555575 missense probably damaging 0.99
R1110:Pitrm1 UTSW 13 6558244 missense probably benign 0.03
R1170:Pitrm1 UTSW 13 6552744 splice site probably benign
R1373:Pitrm1 UTSW 13 6570700 missense probably benign 0.03
R1563:Pitrm1 UTSW 13 6563470 missense possibly damaging 0.85
R1897:Pitrm1 UTSW 13 6560095 missense possibly damaging 0.78
R1985:Pitrm1 UTSW 13 6558184 missense probably damaging 1.00
R2075:Pitrm1 UTSW 13 6555383 missense probably damaging 1.00
R2114:Pitrm1 UTSW 13 6557773 missense probably damaging 1.00
R2115:Pitrm1 UTSW 13 6557773 missense probably damaging 1.00
R2206:Pitrm1 UTSW 13 6569291 missense probably damaging 1.00
R2207:Pitrm1 UTSW 13 6569291 missense probably damaging 1.00
R2260:Pitrm1 UTSW 13 6560125 missense probably damaging 1.00
R2568:Pitrm1 UTSW 13 6575092 missense probably benign 0.15
R3409:Pitrm1 UTSW 13 6578481 missense possibly damaging 0.81
R3756:Pitrm1 UTSW 13 6558235 missense probably damaging 1.00
R4020:Pitrm1 UTSW 13 6556687 missense probably damaging 1.00
R4327:Pitrm1 UTSW 13 6579773 utr 3 prime probably benign
R4540:Pitrm1 UTSW 13 6555470 critical splice donor site probably null
R4579:Pitrm1 UTSW 13 6558225 missense probably benign 0.05
R4659:Pitrm1 UTSW 13 6553182 missense probably benign 0.37
R4685:Pitrm1 UTSW 13 6556542 missense probably benign 0.00
R4888:Pitrm1 UTSW 13 6578560 missense probably damaging 1.00
R5072:Pitrm1 UTSW 13 6553190 missense probably damaging 1.00
R5159:Pitrm1 UTSW 13 6567471 missense probably benign 0.00
R5383:Pitrm1 UTSW 13 6577432 missense probably damaging 1.00
R5470:Pitrm1 UTSW 13 6553270 missense probably benign 0.07
R5606:Pitrm1 UTSW 13 6560065 missense probably damaging 1.00
R6224:Pitrm1 UTSW 13 6565054 missense probably damaging 1.00
R6302:Pitrm1 UTSW 13 6560061 missense probably damaging 0.99
R6898:Pitrm1 UTSW 13 6555459 missense probably damaging 1.00
R7021:Pitrm1 UTSW 13 6578557 missense probably damaging 0.99
R7249:Pitrm1 UTSW 13 6560125 missense probably damaging 1.00
R7256:Pitrm1 UTSW 13 6556597 missense probably damaging 1.00
R7363:Pitrm1 UTSW 13 6569351 missense probably benign
R7502:Pitrm1 UTSW 13 6560622 missense probably damaging 0.97
Posted On2013-06-21