Incidental Mutation 'IGL03112:Pitrm1'
ID 419247
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 # IGL03112
Quality Score
Status
Chromosome 13
Chromosomal Location 6598158-6630194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6615044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 508 (Q508K)
Ref Sequence ENSEMBL: ENSMUSP00000021611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000222485]
AlphaFold Q8K411
Predicted Effect probably benign
Transcript: ENSMUST00000021611
AA Change: Q508K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: Q508K

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 probably benign
Transcript: ENSMUST00000222485
AA Change: Q547K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null 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
IGL03028:Pitrm1 APN 13 6,624,429 (GRCm39) missense probably benign 0.00
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