Incidental Mutation 'R9616:Pitrm1'
ID 724609
Institutional Source Beutler Lab
Gene Symbol Pitrm1
Ensembl Gene ENSMUSG00000021193
Gene Name pitrilysin metallepetidase 1
Synonyms 2310012C15Rik, Ntup1, PreP, MP-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9616 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 6598158-6630194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6605602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 183 (R183L)
Ref Sequence ENSEMBL: ENSMUSP00000152229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000221911] [ENSMUST00000222485]
AlphaFold Q8K411
Predicted Effect probably damaging
Transcript: ENSMUST00000021611
AA Change: R182L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193
AA Change: R182L

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 damaging
Transcript: ENSMUST00000222485
AA Change: R183L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040M04Rik T A 1: 151,080,480 (GRCm39) D189E probably benign Het
Abca13 A T 11: 9,240,501 (GRCm39) H788L probably benign Het
Abcb1b A G 5: 8,862,779 (GRCm39) I154V probably benign Het
Acsm4 A G 7: 119,293,872 (GRCm39) N81S probably benign Het
Adamts5 G A 16: 85,659,674 (GRCm39) H873Y probably benign Het
Aox4 C T 1: 58,268,020 (GRCm39) T200I possibly damaging Het
Arhgap33 A G 7: 30,229,367 (GRCm39) V336A probably damaging Het
Brca1 C T 11: 101,416,683 (GRCm39) E484K probably damaging Het
Capn13 T A 17: 73,672,964 (GRCm39) D113V probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,892,078 (GRCm39) E274K Het
Cfh A T 1: 140,030,254 (GRCm39) I891K probably damaging Het
Cgn A G 3: 94,670,332 (GRCm39) S1041P probably damaging Het
Cldn18 T C 9: 99,580,915 (GRCm39) D111G probably benign Het
Cnp G A 11: 100,467,261 (GRCm39) R68Q probably benign Het
Cntn4 T A 6: 106,674,525 (GRCm39) C1008* probably null Het
Cntnap5a T C 1: 116,029,323 (GRCm39) I259T probably benign Het
Cubn A G 2: 13,319,529 (GRCm39) I2897T probably benign Het
Cyp2c39 T A 19: 39,501,648 (GRCm39) L67Q probably damaging Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddc C T 11: 11,772,288 (GRCm39) W349* probably null Het
Dennd3 A G 15: 73,440,563 (GRCm39) E1198G probably benign Het
Dnah1 T C 14: 31,026,400 (GRCm39) D826G probably null Het
Dpp4 T C 2: 62,217,429 (GRCm39) Y56C probably damaging Het
Etv6 A G 6: 134,243,295 (GRCm39) D350G possibly damaging Het
Fat1 C A 8: 45,406,075 (GRCm39) P942Q probably damaging Het
Fbxl5 A G 5: 43,916,159 (GRCm39) F418L probably benign Het
Fbxo11 T A 17: 88,316,098 (GRCm39) H368L Het
Fhl2 G T 1: 43,167,546 (GRCm39) H182Q probably damaging Het
Gabpa T A 16: 84,649,461 (GRCm39) C223S probably damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Greb1 A T 12: 16,790,038 (GRCm39) N3K probably damaging Het
Hmcn1 T G 1: 150,684,473 (GRCm39) S366R probably benign Het
Il17b A G 18: 61,825,363 (GRCm39) Q133R probably benign Het
Inha T A 1: 75,486,211 (GRCm39) S169T probably benign Het
Itsn1 G A 16: 91,650,055 (GRCm39) R243H probably benign Het
Kcnu1 G GA 8: 26,403,675 (GRCm39) probably null Het
Kdm1b A G 13: 47,234,030 (GRCm39) E788G probably damaging Het
Kdm2a A T 19: 4,370,308 (GRCm39) I1059N probably damaging Het
Klk1b9 G T 7: 43,628,795 (GRCm39) G100C probably benign Het
Knl1 T C 2: 118,899,994 (GRCm39) V565A probably benign Het
Knl1 A T 2: 118,907,425 (GRCm39) N1650Y probably damaging Het
Lpp T C 16: 24,580,719 (GRCm39) V270A probably benign Het
Lrrc15 A G 16: 30,092,517 (GRCm39) L274P probably damaging Het
Mertk C T 2: 128,643,255 (GRCm39) L885F probably benign Het
Mpst T A 15: 78,294,361 (GRCm39) L31* probably null Het
Ms4a10 T C 19: 10,944,440 (GRCm39) T115A possibly damaging Het
Myof A G 19: 37,923,263 (GRCm39) I1330T possibly damaging Het
Ncam2 T C 16: 81,240,142 (GRCm39) I201T probably damaging Het
Nefh T A 11: 4,889,443 (GRCm39) K1059* probably null Het
Nek1 T C 8: 61,473,107 (GRCm39) Y168H probably damaging Het
Nek11 T A 9: 105,082,011 (GRCm39) T531S probably damaging Het
Nelfa G A 5: 34,059,127 (GRCm39) P243S possibly damaging Het
Niban1 T C 1: 151,512,193 (GRCm39) Y32H probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Or13c7d T A 4: 43,770,193 (GRCm39) K273* probably null Het
Or52b2 A C 7: 104,986,520 (GRCm39) Y134* probably null Het
Or9i16 A G 19: 13,864,861 (GRCm39) S238P probably damaging Het
Otof A G 5: 30,539,708 (GRCm39) I1035T possibly damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Per1 G T 11: 68,993,554 (GRCm39) C368F probably damaging Het
Prl3a1 C T 13: 27,459,118 (GRCm39) A119V Het
Pycard C T 7: 127,592,776 (GRCm39) G17E probably benign Het
Rnf13 A G 3: 57,740,430 (GRCm39) D249G possibly damaging Het
Sdhaf2 T C 19: 10,494,689 (GRCm39) Y33C probably damaging Het
Sdk2 A G 11: 113,691,061 (GRCm39) V1838A probably benign Het
Sgo2b C T 8: 64,380,274 (GRCm39) V853I probably benign Het
Slc1a4 T C 11: 20,282,403 (GRCm39) T24A probably benign Het
Slc8a1 T C 17: 81,955,407 (GRCm39) T544A probably benign Het
Sntg2 T C 12: 30,326,732 (GRCm39) N143S probably benign Het
Sphkap T C 1: 83,254,989 (GRCm39) E920G probably damaging Het
Srgap2 T A 1: 131,252,828 (GRCm39) H132L Het
Srgap3 A T 6: 112,748,524 (GRCm39) V376D probably damaging Het
Stxbp5l T C 16: 37,036,314 (GRCm39) K434E probably damaging Het
Tab2 A T 10: 7,795,005 (GRCm39) N492K possibly damaging Het
Tbc1d32 T C 10: 56,037,246 (GRCm39) Q666R possibly damaging Het
Tekt4 T C 17: 25,692,782 (GRCm39) probably null Het
Tnni3k G A 3: 154,667,724 (GRCm39) Q230* probably null Het
Trp53bp1 A C 2: 121,066,657 (GRCm39) S690A probably benign Het
Trpa1 C A 1: 14,989,077 (GRCm39) probably benign Het
Trpm1 T G 7: 63,858,132 (GRCm39) V324G probably damaging Het
Usp29 A G 7: 6,966,179 (GRCm39) E674G possibly damaging Het
Vmn2r59 T C 7: 41,661,299 (GRCm39) R839G probably damaging Het
Vmn2r6 A G 3: 64,445,724 (GRCm39) L667P probably damaging Het
Vmn2r91 T A 17: 18,356,305 (GRCm39) F657L possibly damaging Het
Vps13d A G 4: 144,824,701 (GRCm39) V2923A Het
Xylb T A 9: 119,201,022 (GRCm39) L220Q probably damaging Het
Zbtb10 C T 3: 9,316,473 (GRCm39) T95M probably benign Het
Zfp263 C T 16: 3,567,482 (GRCm39) P599L probably damaging Het
Zfp532 A G 18: 65,789,639 (GRCm39) E1026G probably benign Het
Zfp78 A G 7: 6,382,078 (GRCm39) N376S 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
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
Predicted Primers PCR Primer
(F):5'- GGATTTCAAACTCTCGCGC -3'
(R):5'- GTTAAAGGCCGCACTCATG -3'

Sequencing Primer
(F):5'- GCCAGCGATTACACGATATATCCG -3'
(R):5'- ATCTCGTTGAAGACGACC -3'
Posted On 2022-09-12