Incidental Mutation 'R4685:Pitrm1'
ID 386368
Institutional Source Beutler Lab
Gene Symbol Pitrm1
Ensembl Gene ENSMUSG00000021193
Gene Name pitrilysin metallepetidase 1
Synonyms 2310012C15Rik, Ntup1, PreP, MP-1
MMRRC Submission 041936-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4685 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 6598158-6630194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6606578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 211 (T211A)
Ref Sequence ENSEMBL: ENSMUSP00000152229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000221911] [ENSMUST00000222485]
AlphaFold Q8K411
Predicted Effect probably benign
Transcript: ENSMUST00000021611
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: T210A

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: ENSMUST00000220454
Predicted Effect probably benign
Transcript: ENSMUST00000221120
Predicted Effect probably benign
Transcript: ENSMUST00000221911
Predicted Effect probably benign
Transcript: ENSMUST00000222485
AA Change: T211A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (71/73)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,057,185 (GRCm39) D104G probably damaging Het
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
Adcy2 T C 13: 68,876,024 (GRCm39) R493G probably benign Het
Adcy8 A G 15: 64,609,287 (GRCm39) I874T probably benign Het
Ano2 G T 6: 125,957,087 (GRCm39) E619* probably null Het
Apob A G 12: 8,056,456 (GRCm39) K1613R probably benign Het
Arhgef10 T A 8: 15,006,963 (GRCm39) F476Y probably damaging Het
Bmf G A 2: 118,377,283 (GRCm39) A74V probably damaging Het
Cadps T C 14: 12,467,139 (GRCm38) E925G possibly damaging Het
Ccdc162 T C 10: 41,557,682 (GRCm39) D181G possibly damaging Het
Ccdc85c A T 12: 108,173,434 (GRCm39) C387S probably benign Het
Cntnap5a T C 1: 116,374,410 (GRCm39) V974A possibly damaging Het
Cplx3 T A 9: 57,516,483 (GRCm39) I407F probably damaging Het
Dnah7b T C 1: 46,250,488 (GRCm39) F1703S probably damaging Het
Dsg3 C A 18: 20,672,793 (GRCm39) D821E probably benign Het
Ecel1 G T 1: 87,080,668 (GRCm39) probably null Het
Edn1 A T 13: 42,458,729 (GRCm39) probably null Het
Egfr G A 11: 16,808,980 (GRCm39) C58Y probably damaging Het
Fam184a T C 10: 53,574,596 (GRCm39) N282D probably benign Het
Fhit T A 14: 9,870,091 (GRCm38) Q63L probably damaging Het
Gabarapl2 T C 8: 112,669,150 (GRCm39) V36A probably benign Het
Glis1 T C 4: 107,424,842 (GRCm39) V151A probably benign Het
Gm12695 A G 4: 96,650,217 (GRCm39) S210P probably damaging Het
Gpat4 TAGAAGA TAGA 8: 23,672,865 (GRCm39) probably benign Het
H2-M10.4 G A 17: 36,772,688 (GRCm39) A98V probably benign Het
Hhat C A 1: 192,277,362 (GRCm39) G366C probably damaging Het
Hydin C A 8: 111,189,154 (GRCm39) A1186E probably damaging Het
Itgb2 T A 10: 77,385,937 (GRCm39) probably null Het
Kank1 C T 19: 25,387,398 (GRCm39) A329V possibly damaging Het
Kdm4b T A 17: 56,708,675 (GRCm39) S1070T probably benign Het
Kyat1 A G 2: 30,078,277 (GRCm39) Y101H probably damaging Het
Map4k5 T C 12: 69,858,140 (GRCm39) K679R probably benign Het
Mill1 A T 7: 17,989,853 (GRCm39) D45V probably damaging Het
Myo3a T A 2: 22,412,233 (GRCm39) Y743N probably damaging Het
Nox4 C G 7: 86,946,716 (GRCm39) I137M probably benign Het
Odf4 A G 11: 68,813,665 (GRCm39) probably null Het
Ostf1 A T 19: 18,558,652 (GRCm39) D210E probably damaging Het
Paxip1 A T 5: 27,966,675 (GRCm39) probably null Het
Pla2g4f A G 2: 120,135,496 (GRCm39) S393P probably damaging Het
Plppr3 T C 10: 79,703,359 (GRCm39) T42A probably damaging Het
Plxna4 C A 6: 32,142,779 (GRCm39) G1559W probably damaging Het
Ppp1r13l T C 7: 19,109,308 (GRCm39) probably null Het
Prex1 C T 2: 166,480,252 (GRCm39) V163M probably damaging Het
Prl6a1 A G 13: 27,500,307 (GRCm39) T93A probably benign Het
Psg16 T C 7: 16,824,459 (GRCm39) V81A probably benign Het
Rbm33 A T 5: 28,613,280 (GRCm39) probably benign Het
Rest C T 5: 77,423,090 (GRCm39) P298L possibly damaging Het
Rhobtb3 G A 13: 76,027,051 (GRCm39) R441* probably null Het
Rims4 T A 2: 163,706,914 (GRCm39) K155* probably null Het
Rps6kb1 C T 11: 86,410,713 (GRCm39) probably null Het
Ryr2 T C 13: 11,707,532 (GRCm39) D2835G probably damaging Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Sell A T 1: 163,893,829 (GRCm39) I175F probably damaging Het
Serpinb6d A G 13: 33,855,211 (GRCm39) D295G probably damaging Het
Sphk1 A G 11: 116,426,106 (GRCm39) D96G probably damaging Het
Spns3 A T 11: 72,428,096 (GRCm39) V228D probably damaging Het
Sspo A G 6: 48,469,828 (GRCm39) S4500G probably damaging Het
Syt9 T A 7: 107,035,678 (GRCm39) C232S possibly damaging Het
Terf1 A G 1: 15,889,185 (GRCm39) I176V possibly damaging Het
Tln2 C T 9: 67,209,854 (GRCm39) A428T probably damaging Het
Tmprss7 T C 16: 45,499,711 (GRCm39) N321S probably benign Het
Tomm40 A G 7: 19,435,761 (GRCm39) I323T probably benign Het
Try5 T A 6: 41,288,233 (GRCm39) Q240L possibly damaging Het
Vmn1r213 A T 13: 23,195,800 (GRCm39) I128L probably benign Het
Vmn2r80 T C 10: 79,030,162 (GRCm39) F663L possibly damaging Het
Znfx1 T A 2: 166,880,950 (GRCm39) Y278F probably damaging Het
Zpbp2 A G 11: 98,442,117 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACTGTGGACCAAGGAATTC -3'
(R):5'- ACACTACCTGGCATTGCTTGG -3'

Sequencing Primer
(F):5'- CAAGGAATTCTTGCTCATCTATCC -3'
(R):5'- CATTGCTTGGGTGATAATGAGTAGC -3'
Posted On 2016-05-20