Incidental Mutation 'PIT4504001:Pmpcb'
ID 556004
Institutional Source Beutler Lab
Gene Symbol Pmpcb
Ensembl Gene ENSMUSG00000029017
Gene Name peptidase (mitochondrial processing) beta
Synonyms MPP11, 3110004O18Rik, MPPP52
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4504001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 21942158-21962150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21948388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 223 (R223L)
Ref Sequence ENSEMBL: ENSMUSP00000030882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030882] [ENSMUST00000149648]
AlphaFold Q9CXT8
Predicted Effect probably damaging
Transcript: ENSMUST00000030882
AA Change: R223L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: R223L

low complexity region 23 35 N/A INTRINSIC
Pfam:Peptidase_M16 68 215 6.1e-59 PFAM
Pfam:Peptidase_M16_C 220 404 4.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149648
SMART Domains Protein: ENSMUSP00000119619
Gene: ENSMUSG00000029017

Pfam:Peptidase_M16 1 50 2.5e-19 PFAM
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.6%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruptin exhibit embryonic lethality at E8. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,547,537 (GRCm39) C970* probably null Het
Adgrv1 G A 13: 81,707,471 (GRCm39) P1312S probably damaging Het
Arid5a T C 1: 36,356,706 (GRCm39) I116T probably damaging Het
Bank1 C A 3: 135,806,180 (GRCm39) D485Y probably damaging Het
Cbln3 C T 14: 56,120,956 (GRCm39) V122M probably damaging Het
Cox10 C T 11: 63,855,042 (GRCm39) C413Y possibly damaging Het
Ctsll3 T A 13: 60,948,823 (GRCm39) D44V probably benign Het
Cuzd1 A T 7: 130,911,529 (GRCm39) N483K possibly damaging Het
Dcaf4 G A 12: 83,580,785 (GRCm39) probably null Het
Ddx60 A G 8: 62,411,147 (GRCm39) T470A probably benign Het
Dennd1b T C 1: 138,967,742 (GRCm39) V44A probably benign Het
Dusp16 C A 6: 134,716,846 (GRCm39) V154F possibly damaging Het
Ect2 G A 3: 27,181,097 (GRCm39) R586* probably null Het
Ermard T A 17: 15,279,084 (GRCm39) C460* probably null Het
Fat2 C T 11: 55,146,936 (GRCm39) G4020D possibly damaging Het
Flacc1 T A 1: 58,698,258 (GRCm39) I348F probably benign Het
Galnt16 G T 12: 80,639,191 (GRCm39) E402* probably null Het
Gm5414 T G 15: 101,534,258 (GRCm39) D282A probably damaging Het
Gm6741 C T 17: 91,544,344 (GRCm39) Q36* probably null Het
Gm7356 A T 17: 14,221,720 (GRCm39) L103Q probably damaging Het
Hcn1 A G 13: 118,112,411 (GRCm39) T792A possibly damaging Het
Hemgn T C 4: 46,395,863 (GRCm39) N458D probably benign Het
Hesx1 C A 14: 26,723,838 (GRCm39) D140E probably benign Het
Hjv A T 3: 96,435,813 (GRCm39) D357V probably damaging Het
Hmgcr A G 13: 96,799,605 (GRCm39) I163T possibly damaging Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Il33 A T 19: 29,930,139 (GRCm39) H78L probably benign Het
Inpp4b A T 8: 82,768,564 (GRCm39) D691V probably damaging Het
Itpr2 T A 6: 146,131,369 (GRCm39) N1945I probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrp2 T C 2: 69,305,747 (GRCm39) D2938G probably damaging Het
Lrrc8c A T 5: 105,756,403 (GRCm39) Y726F probably benign Het
Magi3 G T 3: 103,922,842 (GRCm39) Q1292K probably benign Het
Mllt3 A C 4: 87,692,324 (GRCm39) F546L probably damaging Het
Mrpl14 A G 17: 46,009,147 (GRCm39) K82R probably benign Het
Noxred1 A G 12: 87,271,653 (GRCm39) V172A possibly damaging Het
Obscn A T 11: 59,023,948 (GRCm39) I574N probably damaging Het
Or2n1b A G 17: 38,460,060 (GRCm39) T194A probably benign Het
Or5k8 T A 16: 58,644,671 (GRCm39) T134S probably benign Het
Osbpl11 T A 16: 33,054,864 (GRCm39) V649D probably benign Het
Pdlim2 G T 14: 70,403,579 (GRCm39) P278T probably benign Het
Pm20d2 A C 4: 33,183,152 (GRCm39) L223V probably damaging Het
Pole2 A T 12: 69,256,759 (GRCm39) Y255* probably null Het
Rims1 T A 1: 22,467,684 (GRCm39) I317L Het
Scnn1g C A 7: 121,341,554 (GRCm39) H239N probably benign Het
Spag17 A G 3: 100,010,426 (GRCm39) probably null Het
Tenm3 A T 8: 48,746,692 (GRCm39) F1038I probably damaging Het
Tshz2 T C 2: 169,727,971 (GRCm39) F856L probably damaging Het
Ubtf A G 11: 102,197,508 (GRCm39) S715P unknown Het
Usp13 A C 3: 32,959,579 (GRCm39) S557R probably damaging Het
Usp19 T A 9: 108,370,169 (GRCm39) S43T probably benign Het
Vmn2r7 A T 3: 64,623,397 (GRCm39) Y308N probably benign Het
Zfp455 A G 13: 67,346,685 (GRCm39) D32G probably damaging Het
Zfp512 T A 5: 31,634,225 (GRCm39) probably null Het
Zfr A G 15: 12,166,244 (GRCm39) E838G possibly damaging Het
Other mutations in Pmpcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Pmpcb APN 5 21,945,476 (GRCm39) splice site probably benign
IGL02123:Pmpcb APN 5 21,948,373 (GRCm39) unclassified probably benign
IGL03271:Pmpcb APN 5 21,943,874 (GRCm39) missense probably benign
PIT4651001:Pmpcb UTSW 5 21,951,048 (GRCm39) missense probably benign 0.00
R0104:Pmpcb UTSW 5 21,951,036 (GRCm39) nonsense probably null
R0157:Pmpcb UTSW 5 21,947,950 (GRCm39) missense probably damaging 1.00
R0374:Pmpcb UTSW 5 21,953,829 (GRCm39) missense probably damaging 1.00
R0842:Pmpcb UTSW 5 21,953,772 (GRCm39) missense possibly damaging 0.95
R4868:Pmpcb UTSW 5 21,953,851 (GRCm39) nonsense probably null
R4888:Pmpcb UTSW 5 21,945,660 (GRCm39) intron probably benign
R4970:Pmpcb UTSW 5 21,961,441 (GRCm39) missense probably damaging 1.00
R5112:Pmpcb UTSW 5 21,961,441 (GRCm39) missense probably damaging 1.00
R5618:Pmpcb UTSW 5 21,947,786 (GRCm39) missense possibly damaging 0.73
R5658:Pmpcb UTSW 5 21,943,999 (GRCm39) missense probably damaging 0.99
R5875:Pmpcb UTSW 5 21,947,944 (GRCm39) missense probably benign 0.04
R6150:Pmpcb UTSW 5 21,942,137 (GRCm39) splice site probably null
R6175:Pmpcb UTSW 5 21,962,031 (GRCm39) missense probably benign
R7201:Pmpcb UTSW 5 21,942,177 (GRCm39) start codon destroyed probably null 0.02
R7450:Pmpcb UTSW 5 21,951,983 (GRCm39) missense possibly damaging 0.46
R7764:Pmpcb UTSW 5 21,948,450 (GRCm39) missense probably damaging 1.00
R8247:Pmpcb UTSW 5 21,961,852 (GRCm39) missense probably damaging 1.00
R8794:Pmpcb UTSW 5 21,961,832 (GRCm39) missense probably benign 0.41
R9116:Pmpcb UTSW 5 21,961,608 (GRCm39) missense probably damaging 1.00
R9290:Pmpcb UTSW 5 21,944,009 (GRCm39) critical splice donor site probably null
R9390:Pmpcb UTSW 5 21,953,810 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07