Incidental Mutation 'R0842:Pmpcb'
ID 77202
Institutional Source Beutler Lab
Gene Symbol Pmpcb
Ensembl Gene ENSMUSG00000029017
Gene Name peptidase (mitochondrial processing) beta
Synonyms MPP11, 3110004O18Rik, MPPP52
MMRRC Submission 039021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0842 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21942158-21962150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21953772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 340 (L340P)
Ref Sequence ENSEMBL: ENSMUSP00000030882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030882]
AlphaFold Q9CXT8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030882
AA Change: L340P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: L340P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000118032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125693
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl8 C A 9: 21,746,972 (GRCm39) Y53* probably null Het
Apbb1ip G A 2: 22,757,678 (GRCm39) R432Q possibly damaging Het
Catsperb A T 12: 101,429,307 (GRCm39) Q160L probably damaging Het
Cdhr18 G A 14: 13,856,686 (GRCm38) S475L probably benign Het
Cilp2 T C 8: 70,335,768 (GRCm39) Y410C probably damaging Het
Cntnap5a G A 1: 116,369,953 (GRCm39) G857S probably damaging Het
D630045J12Rik A T 6: 38,125,400 (GRCm39) V1538E probably damaging Het
Dnah7a A G 1: 53,540,833 (GRCm39) S2514P possibly damaging Het
Eme1 C T 11: 94,541,700 (GRCm39) A41T probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fap A T 2: 62,367,345 (GRCm39) W313R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Ggt6 T A 11: 72,328,088 (GRCm39) L158* probably null Het
Herc2 A C 7: 55,771,453 (GRCm39) I1072L probably benign Het
Hhat T C 1: 192,408,639 (GRCm39) N164S probably benign Het
Klrb1 A G 6: 128,687,008 (GRCm39) probably null Het
L3mbtl4 T A 17: 68,793,957 (GRCm39) D320E probably benign Het
Lyst C A 13: 13,852,826 (GRCm39) Y2275* probably null Het
Map4k3 T C 17: 80,913,412 (GRCm39) N611S probably benign Het
Morc3 T C 16: 93,670,284 (GRCm39) probably null Het
Mtr A C 13: 12,215,133 (GRCm39) Y864D probably damaging Het
Myh2 C T 11: 67,070,350 (GRCm39) A431V possibly damaging Het
Myo9a C A 9: 59,778,350 (GRCm39) Q1369K probably benign Het
Nalf1 T A 8: 9,820,114 (GRCm39) D302V probably benign Het
Nat3 T C 8: 68,000,649 (GRCm39) I176T probably benign Het
Ncapd3 C T 9: 26,948,380 (GRCm39) T54I probably benign Het
Nfyc C A 4: 120,616,574 (GRCm39) E281D probably benign Het
Nlrp14 A G 7: 106,782,342 (GRCm39) D513G probably benign Het
Pacsin2 T C 15: 83,263,382 (GRCm39) E83G probably damaging Het
Plagl1 G T 10: 13,004,298 (GRCm39) probably benign Het
Pou2af3 T C 9: 51,183,668 (GRCm39) E102G probably benign Het
Pou2f2 A T 7: 24,796,355 (GRCm39) L364Q probably damaging Het
Rab1b A T 19: 5,154,697 (GRCm39) I84N probably damaging Het
Ric3 T C 7: 108,638,087 (GRCm39) Y222C probably damaging Het
Samhd1 A G 2: 156,965,251 (GRCm39) V188A probably damaging Het
Socs4 T A 14: 47,527,426 (GRCm39) H107Q probably damaging Het
Tex15 T A 8: 34,061,575 (GRCm39) I335K possibly damaging Het
Thoc2l T A 5: 104,667,066 (GRCm39) N529K possibly damaging Het
Thop1 C A 10: 80,911,411 (GRCm39) T99K probably damaging Het
Tnik A G 3: 28,648,235 (GRCm39) E429G possibly damaging Het
Vmn2r106 T A 17: 20,488,465 (GRCm39) I645F probably damaging Het
Zscan29 T A 2: 120,991,960 (GRCm39) R609S 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
PIT4504001:Pmpcb UTSW 5 21,948,388 (GRCm39) missense probably damaging 0.97
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
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
(F):5'- CTGTCCATCACTGTTGAGCCCC -3'
(R):5'- ACATCCACTTTAAAAGCTAAAGTTACCACCAT -3'

Sequencing Primer
(F):5'- tgtgttctaagccagccag -3'
(R):5'- GTTACCACCATTAGGAAAATGGTC -3'
Posted On 2013-10-16