Mutagenetix > Incidental Mutation

Incidental Mutation 'R7450:Pmpcb'

577631

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 #

R7450 (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 A at 21951983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 286 (V286E)

Ref Sequence

ENSEMBL: ENSMUSP00000030882 (fasta)

Gene Model

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

AlphaFold

Q9CXT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030882
AA Change: V286E

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: V286E

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,331,977 (GRCm39)	R746W	possibly damaging	Het
Abcc2	T	C	19: 43,810,478 (GRCm39)	L925P	probably damaging	Het
Abcc3	A	T	11: 94,252,521 (GRCm39)	H787Q	probably damaging	Het
Acly	A	T	11: 100,370,101 (GRCm39)	V987E	probably damaging	Het
Afg2a	T	C	3: 37,510,934 (GRCm39)	L697S	probably damaging	Het
Cacna1b	A	T	2: 24,525,147 (GRCm39)	Y1676*	probably null	Het
Ccdc168	A	G	1: 44,097,933 (GRCm39)	V1055A	probably benign	Het
Ccdc175	T	A	12: 72,202,447 (GRCm39)	I283F	possibly damaging	Het
Cfap46	A	T	7: 139,197,353 (GRCm39)	F2173I	unknown	Het
Cln6	G	A	9: 62,757,912 (GRCm39)	E224K	probably damaging	Het
Cyp1a1	T	A	9: 57,609,415 (GRCm39)	L372Q	probably damaging	Het
Dnah8	T	A	17: 31,006,165 (GRCm39)	I3694N	probably damaging	Het
Dnal1	T	C	12: 84,171,297 (GRCm39)	Y31H	probably benign	Het
Eid3	T	A	10: 82,702,737 (GRCm39)	M66K	probably benign	Het
Epo	T	A	5: 137,481,497 (GRCm39)	E143D	probably damaging	Het
Fbxo25	C	A	8: 13,981,235 (GRCm39)	N236K	probably benign	Het
Fsip2	A	G	2: 82,782,024 (GRCm39)	I266V	probably benign	Het
Galnt6	T	C	15: 100,595,696 (GRCm39)	Y444C	probably damaging	Het
Gna11	T	C	10: 81,368,356 (GRCm39)	Y160C		Het
Hectd4	A	T	5: 121,419,995 (GRCm39)	T647S	probably benign	Het
Hgd	T	C	16: 37,444,686 (GRCm39)	V316A	possibly damaging	Het
Idh3a	T	C	9: 54,503,367 (GRCm39)	V142A	probably damaging	Het
Il3ra	T	A	14: 14,351,090 (GRCm38)	I297N	probably benign	Het
Kcnj5	T	G	9: 32,233,491 (GRCm39)	I275L	possibly damaging	Het
Kdm7a	A	T	6: 39,120,185 (GRCm39)	L928Q	probably damaging	Het
Kmo	A	G	1: 175,466,666 (GRCm39)	I75V	probably benign	Het
Krtap1-3	C	A	11: 99,481,697 (GRCm39)	C150F	unknown	Het
Lingo3	C	A	10: 80,670,671 (GRCm39)	E420*	probably null	Het
Lrrc37a	A	G	11: 103,389,152 (GRCm39)	V2091A	probably benign	Het
N4bp2	T	A	5: 65,982,643 (GRCm39)	Y1632*	probably null	Het
Nlrp1a	C	A	11: 70,998,484 (GRCm39)	G905V	probably damaging	Het
Nlrp9c	T	A	7: 26,064,364 (GRCm39)	E988V	probably benign	Het
Nol8	T	G	13: 49,813,491 (GRCm39)	H179Q	probably benign	Het
Notch3	G	A	17: 32,360,365 (GRCm39)	P1522L	possibly damaging	Het
Nup210l	T	C	3: 90,022,495 (GRCm39)		probably null	Het
Oas1b	T	A	5: 120,959,321 (GRCm39)	Y234*	probably null	Het
Or10al7	T	C	17: 38,366,000 (GRCm39)	I152M	probably benign	Het
Or12d17	C	A	17: 37,777,507 (GRCm39)	Q137K	probably benign	Het
Or12e14	A	C	2: 87,676,803 (GRCm39)	K63Q	probably damaging	Het
Or13c9	T	A	4: 52,936,113 (GRCm39)	K57*	probably null	Het
Or6c1b	A	C	10: 129,273,298 (GRCm39)	M206L	probably benign	Het
Pag1	T	C	3: 9,764,599 (GRCm39)	T185A	probably damaging	Het
Palmd	A	T	3: 116,721,292 (GRCm39)	S100T	probably damaging	Het
Papln	C	A	12: 83,826,945 (GRCm39)	A690E	probably benign	Het
Pcdhga7	C	T	18: 37,849,079 (GRCm39)	T362M	probably benign	Het
Pon3	T	C	6: 5,236,940 (GRCm39)	I142M	possibly damaging	Het
Prdx6	A	G	1: 161,069,386 (GRCm39)	S194P	probably benign	Het
Rapgef2	T	C	3: 79,080,366 (GRCm39)	E112G	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rps6kb1	T	A	11: 86,393,657 (GRCm39)	E491V	probably benign	Het
Sema3d	C	T	5: 12,634,901 (GRCm39)	Q656*	probably null	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc16a7	G	T	10: 125,063,920 (GRCm39)	H472Q	probably benign	Het
Slc49a4	T	C	16: 35,589,344 (GRCm39)	I90V	possibly damaging	Het
Slc9a2	A	G	1: 40,720,995 (GRCm39)		probably benign	Het
Smad4	A	G	18: 73,810,924 (GRCm39)	V20A	probably damaging	Het
Sstr3	G	A	15: 78,424,043 (GRCm39)	R235W	probably damaging	Het
Svep1	T	A	4: 58,064,248 (GRCm39)	H3245L	possibly damaging	Het
Tra2a	G	A	6: 49,227,919 (GRCm39)	R70*	probably null	Het
Trav7-4	G	T	14: 53,698,924 (GRCm39)	V24L	probably benign	Het
Tsc2	C	A	17: 24,819,005 (GRCm39)	S1278I	probably damaging	Het
Ubtf	A	G	11: 102,197,475 (GRCm39)	S726P	unknown	Het
Vmn2r42	A	T	7: 8,187,220 (GRCm39)	Y851N	probably benign	Het
Wwp1	A	G	4: 19,640,016 (GRCm39)	Y509H	probably damaging	Het
Xirp2	A	C	2: 67,340,159 (GRCm39)	Q800P	possibly damaging	Het
Zc3h7b	T	C	15: 81,667,281 (GRCm39)	F609L	probably benign	Het
Zdhhc8	G	T	16: 18,043,035 (GRCm39)	H388Q	probably benign	Het
Zfp1004	A	G	2: 150,035,046 (GRCm39)	T456A	probably benign	Het
Zfp644	T	C	5: 106,786,392 (GRCm39)	K52E	probably benign	Het
Zfp82	T	G	7: 29,756,320 (GRCm39)	E254A	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
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
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'- ATCGTCTGAAGCACACAGTG -3'
(R):5'- GTCACTTTGAACACTGAAGAGTC -3'

Sequencing Primer
(F):5'- TCGTCTGAAGCACACAGTGTAATAC -3'
(R):5'- TTGAACACTGAAGAGTCTTACAAGG -3'

Posted On

2019-10-07