Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Pmpcb'

280743

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

21942158-21962150 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 21948373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030882] [ENSMUST00000149648]

AlphaFold

Q9CXT8

Predicted Effect

probably benign
Transcript: ENSMUST00000030882

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147236

Predicted Effect

probably benign
Transcript: ENSMUST00000149648

SMART Domains

Protein: ENSMUSP00000119619
Gene: ENSMUSG00000029017

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	1	50	2.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150861

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,328,914 (GRCm39)	T31A	probably benign	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ampd3	T	C	7: 110,401,766 (GRCm39)	V429A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cldn11	C	T	3: 31,204,336 (GRCm39)	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801 (GRCm39)	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,569,740 (GRCm39)		probably null	Het
Copa	T	A	1: 171,939,695 (GRCm39)	L621H	probably damaging	Het
Dbn1	T	C	13: 55,624,553 (GRCm39)	D332G	possibly damaging	Het
Drc1	T	C	5: 30,504,448 (GRCm39)	S197P	probably benign	Het
E2f2	A	G	4: 135,900,159 (GRCm39)	N23S	probably benign	Het
Epb41l2	T	A	10: 25,336,742 (GRCm39)	L246H	probably damaging	Het
Fam13b	G	A	18: 34,578,671 (GRCm39)		probably benign	Het
Fam184b	A	G	5: 45,796,493 (GRCm39)	M30T	possibly damaging	Het
Fn3krp	G	A	11: 121,320,270 (GRCm39)	R205H	probably benign	Het
Fndc11	A	G	2: 180,863,443 (GRCm39)	I83V	probably benign	Het
Garin2	T	C	12: 78,780,981 (GRCm39)		probably null	Het
Gm3629	C	T	14: 17,834,541 (GRCm39)	R150H	probably benign	Het
Hs6st1	T	A	1: 36,142,952 (GRCm39)	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,226,081 (GRCm39)	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,608,989 (GRCm39)	F385L	probably benign	Het
Krt87	A	T	15: 101,385,466 (GRCm39)	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,632,342 (GRCm39)	I162F	probably damaging	Het
Map3k21	A	G	8: 126,652,849 (GRCm39)	E325G	probably damaging	Het
Mpo	A	T	11: 87,685,621 (GRCm39)	N33I	probably benign	Het
Mpp4	A	G	1: 59,200,625 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,494 (GRCm39)	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,171,554 (GRCm39)		probably benign	Het
Nostrin	C	T	2: 68,986,453 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,595,969 (GRCm39)	M498V	probably benign	Het
Nr4a2	A	T	2: 57,001,667 (GRCm39)	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,873 (GRCm39)	N598I	probably damaging	Het
Pex19	T	A	1: 171,961,853 (GRCm39)	M207K	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Plekha2	T	C	8: 25,532,745 (GRCm39)	K409E	probably damaging	Het
Plxna2	T	C	1: 194,476,691 (GRCm39)	L1169P	probably damaging	Het
Ptrh1	T	C	2: 32,666,826 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,288,265 (GRCm39)	E439G	probably damaging	Het
Ric1	C	T	19: 29,572,200 (GRCm39)	A665V	probably benign	Het
Stx18	T	A	5: 38,285,447 (GRCm39)	V219D	probably damaging	Het
Taf7	A	T	18: 37,775,533 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,415,988 (GRCm39)	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,419,317 (GRCm39)	S766P	probably damaging	Het
Tekt3	C	A	11: 62,974,766 (GRCm39)	H362N	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem94	T	C	11: 115,678,364 (GRCm39)	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,367,933 (GRCm39)	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,953,744 (GRCm39)	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,300,941 (GRCm39)	C648S	probably damaging	Het
Zfpm2	G	A	15: 40,965,591 (GRCm39)	C560Y	probably damaging	Het

Other mutations in Pmpcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Pmpcb	APN	5	21,945,476 (GRCm39)	splice site	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
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

Posted On

2015-04-16