Mutagenetix > Incidental Mutation

Incidental Mutation 'R9290:Pmpcb'

704204

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 #

R9290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21942158-21962150 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21944009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030882 (fasta)

Gene Model

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

AlphaFold

Q9CXT8

Predicted Effect

probably null
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

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,457,538 (GRCm39)	K268R	probably damaging	Het
Acvr1	T	C	2: 58,338,330 (GRCm39)	D464G	probably damaging	Het
Adra1d	G	T	2: 131,403,898 (GRCm39)	T64K	probably benign	Het
Cct3	T	C	3: 88,216,536 (GRCm39)	V164A	probably benign	Het
Cdhr2	T	C	13: 54,882,009 (GRCm39)	V1153A	possibly damaging	Het
Cdkn2c	A	C	4: 109,518,512 (GRCm39)	Y147*	probably null	Het
Ces1g	A	T	8: 94,029,545 (GRCm39)	H562Q	probably benign	Het
Cfap221	A	G	1: 119,853,381 (GRCm39)	L771P	probably benign	Het
Chsy3	A	G	18: 59,542,928 (GRCm39)	M689V	probably benign	Het
Ciita	T	A	16: 10,326,513 (GRCm39)	S235T	probably damaging	Het
Cracdl	T	A	1: 37,663,634 (GRCm39)	R755W	probably damaging	Het
Dcdc2a	A	G	13: 25,386,313 (GRCm39)	K396E	probably benign	Het
Dgki	C	T	6: 37,276,780 (GRCm39)	C35Y	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnai7	T	C	6: 145,148,688 (GRCm39)	E57G	unknown	Het
Eif3a	A	G	19: 60,765,221 (GRCm39)	V322A	probably damaging	Het
Foxp2	A	T	6: 15,197,120 (GRCm39)	Q54L	possibly damaging	Het
Garin2	T	A	12: 78,759,028 (GRCm39)	V116E	possibly damaging	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gtf3c3	T	G	1: 54,477,997 (GRCm39)	E26A	possibly damaging	Het
Hps5	T	C	7: 46,424,331 (GRCm39)	E514G	probably damaging	Het
Ide	A	T	19: 37,302,647 (GRCm39)	D154E		Het
Insm1	T	C	2: 146,065,273 (GRCm39)	V363A	probably benign	Het
Iqgap2	A	T	13: 95,886,523 (GRCm39)	M120K	probably damaging	Het
Kcnh5	T	A	12: 75,023,488 (GRCm39)	I527F	probably benign	Het
Lrtm2	A	G	6: 119,297,792 (GRCm39)	L83P	probably damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Mycbp2	A	T	14: 103,425,960 (GRCm39)	H2421Q	probably damaging	Het
Myh15	A	G	16: 48,997,375 (GRCm39)	E1731G	probably damaging	Het
Myt1	A	T	2: 181,437,667 (GRCm39)	H168L	probably benign	Het
Nxph4	A	T	10: 127,362,546 (GRCm39)	V115E	probably damaging	Het
Ofcc1	A	T	13: 40,433,802 (GRCm39)	I101N	possibly damaging	Het
Oog2	T	C	4: 143,923,015 (GRCm39)	F427L	probably benign	Het
Or4c115	A	G	2: 88,928,076 (GRCm39)	L65P	probably damaging	Het
Or4f14b	A	T	2: 111,774,967 (GRCm39)	I278N	possibly damaging	Het
Or5w11	A	G	2: 87,459,209 (GRCm39)	N18S	probably benign	Het
Or8b48	T	C	9: 38,493,334 (GRCm39)	S254P	probably damaging	Het
Or8g27	A	G	9: 39,129,531 (GRCm39)	R293G	probably damaging	Het
Otop1	T	G	5: 38,455,302 (GRCm39)	I232S	probably benign	Het
Pak6	G	A	2: 118,523,883 (GRCm39)	R346Q	probably damaging	Het
Pbk	A	T	14: 66,054,713 (GRCm39)	M282L	probably benign	Het
Pou5f2	T	A	13: 78,173,585 (GRCm39)	W176R	probably damaging	Het
Prkra	G	T	2: 76,478,147 (GRCm39)	S18R	probably benign	Het
Prune2	G	T	19: 17,145,691 (GRCm39)	A2764S	probably benign	Het
Ptpdc1	A	T	13: 48,740,221 (GRCm39)	D403E	probably benign	Het
Pxylp1	T	C	9: 96,722,089 (GRCm39)	E54G	probably damaging	Het
Rap1gap	G	A	4: 137,446,222 (GRCm39)	A325T	probably damaging	Het
Raver2	G	A	4: 100,977,387 (GRCm39)		probably benign	Het
Rbpj	T	C	5: 53,810,745 (GRCm39)	V455A	probably damaging	Het
Rptor	A	T	11: 119,702,823 (GRCm39)	I397F	probably benign	Het
Sacs	G	A	14: 61,421,499 (GRCm39)	M148I	probably benign	Het
Sec16b	A	G	1: 157,373,816 (GRCm39)	Q496R	probably damaging	Het
Sned1	C	A	1: 93,199,385 (GRCm39)	C488*	probably null	Het
Snupn	G	T	9: 56,882,547 (GRCm39)	V187F	possibly damaging	Het
Sorcs2	T	C	5: 36,183,225 (GRCm39)	D1016G	probably damaging	Het
Spta1	T	C	1: 174,045,204 (GRCm39)	M1517T	possibly damaging	Het
Them4	G	T	3: 94,231,630 (GRCm39)	G156C	probably damaging	Het
Tnik	T	C	3: 28,675,124 (GRCm39)	S721P	probably benign	Het
Trpm8	T	C	1: 88,246,767 (GRCm39)	S26P	probably damaging	Het
Ube2e3	A	G	2: 78,750,324 (GRCm39)	I183M	probably damaging	Het
Uhrf2	A	G	19: 30,055,416 (GRCm39)	Y389C	probably damaging	Het
Utp4	T	A	8: 107,642,828 (GRCm39)	D495E	possibly damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Vmn1r219	G	A	13: 23,347,399 (GRCm39)	G196E	probably damaging	Het
Vmn2r101	C	T	17: 19,811,395 (GRCm39)	S493L	probably benign	Het
Vmn2r61	A	G	7: 41,915,385 (GRCm39)	T111A	probably benign	Het
Zbtb40	G	T	4: 136,745,529 (GRCm39)	A168E	probably benign	Het
Zscan18	A	T	7: 12,508,054 (GRCm39)	I482N	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
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
R9390:Pmpcb	UTSW	5	21,953,810 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCAGGACAGTAATGTTTTCTC -3'
(R):5'- GCCGACTAAAGACTGTAGCAGC -3'

Sequencing Primer
(F):5'- AGGACAGTAATGTTTTCTCTCTTTC -3'
(R):5'- AGAGTGAGTTCCAGGACA -3'

Posted On

2022-03-25