Mutagenetix > Incidental Mutation

Incidental Mutation 'R9390:Pmpcb'

710535

Institutional Source

Beutler Lab

Gene Symbol

Pmpcb

Ensembl Gene

ENSMUSG00000029017

Gene Name

peptidase (mitochondrial processing) beta

Synonyms

MPP11, 3110004O18Rik, MPPP52

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21942158-21962150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21953810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 353 (F353L)

Ref Sequence

ENSEMBL: ENSMUSP00000030882 (fasta)

Gene Model

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

AlphaFold

Q9CXT8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030882
AA Change: F353L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: F353L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,853,096 (GRCm39)	S13R	probably benign	Het
Amn1	A	T	6: 149,084,983 (GRCm39)	D32E	probably damaging	Het
Asph	T	C	4: 9,635,927 (GRCm39)	D108G	probably damaging	Het
C1rb	T	C	6: 124,557,336 (GRCm39)	L491P	probably damaging	Het
Cep120	G	A	18: 53,839,984 (GRCm39)	R759*	probably null	Het
Chmp6	C	T	11: 119,806,288 (GRCm39)	T38M	possibly damaging	Het
Comtd1	A	G	14: 21,898,867 (GRCm39)	F25S	possibly damaging	Het
Dthd1	G	A	5: 62,975,904 (GRCm39)	G193R	possibly damaging	Het
Dyrk1a	T	A	16: 94,474,330 (GRCm39)	S362R	probably damaging	Het
Ecm2	A	G	13: 49,683,792 (GRCm39)	D590G	probably benign	Het
Exd1	A	T	2: 119,354,180 (GRCm39)	W293R	probably damaging	Het
Fam110a	C	T	2: 151,812,116 (GRCm39)	R218Q	probably benign	Het
Fga	A	T	3: 82,940,610 (GRCm39)	N755Y	probably damaging	Het
Fstl4	C	A	11: 52,891,102 (GRCm39)	T80K	probably benign	Het
Gbp5	A	G	3: 142,208,783 (GRCm39)	K109E	probably benign	Het
Gucy2g	A	G	19: 55,190,607 (GRCm39)	V1009A	probably null	Het
Herc6	C	T	6: 57,602,955 (GRCm39)	Q545*	probably null	Het
Hpd	T	A	5: 123,318,794 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp4b	T	C	8: 82,497,522 (GRCm39)	V114A	probably damaging	Het
Ints14	A	G	9: 64,891,314 (GRCm39)	T432A	probably benign	Het
Isoc1	G	A	18: 58,804,350 (GRCm39)	R126H	probably damaging	Het
Klb	G	T	5: 65,533,044 (GRCm39)	R451L	possibly damaging	Het
Lrtm2	C	T	6: 119,297,948 (GRCm39)	C31Y	probably benign	Het
Mga	C	T	2: 119,794,332 (GRCm39)	S2672F	probably damaging	Het
Mkrn3	T	C	7: 62,069,288 (GRCm39)	I168V	probably benign	Het
Mlph	C	T	1: 90,867,088 (GRCm39)	T370I	probably benign	Het
Naaladl1	A	T	19: 6,162,725 (GRCm39)	I478F	probably damaging	Het
Neb	A	T	2: 52,065,157 (GRCm39)	H6251Q	probably benign	Het
Nom1	C	T	5: 29,639,766 (GRCm39)	R31C	probably benign	Het
Nup153	A	C	13: 46,840,642 (GRCm39)	F989V	probably damaging	Het
Nup188	T	C	2: 30,220,777 (GRCm39)		probably null	Het
Or4c12	T	C	2: 89,773,569 (GRCm39)	K297E	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c210	A	G	10: 129,495,938 (GRCm39)	T88A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,057,983 (GRCm39)	T565A	probably benign	Het
Pcdhb4	T	C	18: 37,442,781 (GRCm39)	V697A	possibly damaging	Het
Pds5a	G	T	5: 65,823,600 (GRCm39)	Q64K	probably benign	Het
Pus10	G	A	11: 23,656,937 (GRCm39)	C221Y	probably damaging	Het
Qrfp	A	G	2: 31,698,749 (GRCm39)	V61A	possibly damaging	Het
Runx1t1	A	G	4: 13,865,932 (GRCm39)	I393M	probably benign	Het
Sh2d5	T	G	4: 137,985,481 (GRCm39)	S310A	probably benign	Het
Shisa9	A	G	16: 12,085,408 (GRCm39)	E339G	possibly damaging	Het
Slc26a10	C	T	10: 127,009,239 (GRCm39)	E641K	probably benign	Het
Slc5a6	A	G	5: 31,197,803 (GRCm39)	V302A	possibly damaging	Het
Tdrd7	T	A	4: 46,005,416 (GRCm39)	D407E	probably damaging	Het
Trp53	A	T	11: 69,478,394 (GRCm39)	Q101L	probably benign	Het
Tsc2	T	A	17: 24,823,824 (GRCm39)	N994Y	probably damaging	Het
Ttc16	T	G	2: 32,657,195 (GRCm39)	K577Q	possibly damaging	Het
Vmn1r195	A	G	13: 22,462,535 (GRCm39)	I2V	probably benign	Het
Vmn2r83	G	T	10: 79,317,322 (GRCm39)	E522*	probably null	Het
Wdr48	T	A	9: 119,746,245 (GRCm39)	F450L	probably benign	Het
Wnt9a	G	A	11: 59,218,592 (GRCm39)	E100K	possibly damaging	Het
Zfp729b	A	T	13: 67,739,182 (GRCm39)	S1028T	probably benign	Het
Zfp729b	C	T	13: 67,742,014 (GRCm39)	V84I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCTTCCAGCCTCTGTAGG -3'
(R):5'- GCTAAAGTTACCACCATTAGGAAAATG -3'

Sequencing Primer
(F):5'- ATGTGTTCTAAGCCAGCCAG -3'
(R):5'- GTACAACGTGCAGCATGT -3'

Posted On

2022-04-18