Mutagenetix > Incidental Mutation

Incidental Mutation 'R8247:Pmpcb'

640696

Institutional Source

Beutler Lab

Gene Symbol

Pmpcb

Ensembl Gene

ENSMUSG00000029017

Gene Name

peptidase (mitochondrial processing) beta

Synonyms

MPP11, 3110004O18Rik, MPPP52

MMRRC Submission

067674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8247 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21942158-21962150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21961852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 457 (Y457H)

Ref Sequence

ENSEMBL: ENSMUSP00000030882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030771] [ENSMUST00000030882] [ENSMUST00000115193] [ENSMUST00000115195]

AlphaFold

Q9CXT8

Predicted Effect

probably benign
Transcript: ENSMUST00000030771

SMART Domains

Protein: ENSMUSP00000030771
Gene: ENSMUSG00000029014

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
low complexity region	231	245	N/A	INTRINSIC
low complexity region	281	319	N/A	INTRINSIC
Pfam:RAC_head	339	430	2.8e-24	PFAM
SANT	450	509	6.64e-10	SMART
SANT	550	602	2.4e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000030882
AA Change: Y457H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: Y457H

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: ENSMUST00000115193

SMART Domains

Protein: ENSMUSP00000110847
Gene: ENSMUSG00000029014

Domain	Start	End	E-Value	Type
coiled coil region	39	67	N/A	INTRINSIC
DnaJ	87	153	2.16e-18	SMART
coiled coil region	230	358	N/A	INTRINSIC
coiled coil region	404	445	N/A	INTRINSIC
SANT	450	509	6.64e-10	SMART
SANT	550	602	1.34e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115195

SMART Domains

Protein: ENSMUSP00000110849
Gene: ENSMUSG00000029014

Domain	Start	End	E-Value	Type
DnaJ	13	79	2.16e-18	SMART
coiled coil region	156	284	N/A	INTRINSIC
coiled coil region	330	371	N/A	INTRINSIC
SANT	376	435	6.64e-10	SMART
SANT	476	528	2.4e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141022

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,942 (GRCm39)	S3P	unknown	Het
Abca15	A	T	7: 119,936,445 (GRCm39)	Y170F	possibly damaging	Het
Alpl	C	T	4: 137,473,764 (GRCm39)	V313M	probably damaging	Het
Ankrd44	T	C	1: 54,792,102 (GRCm39)	H311R	probably damaging	Het
Atm	A	T	9: 53,361,870 (GRCm39)	L2749Q		Het
Bicd2	C	T	13: 49,533,462 (GRCm39)	R683W	probably damaging	Het
Brat1	C	A	5: 140,698,893 (GRCm39)	P342T	possibly damaging	Het
Camta1	T	A	4: 151,159,721 (GRCm39)	T482S	probably damaging	Het
Carhsp1	A	G	16: 8,481,535 (GRCm39)	V67A	probably damaging	Het
Carmil1	T	A	13: 24,282,998 (GRCm39)	N512I	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Cd274	C	T	19: 29,362,795 (GRCm39)	Q286*	probably null	Het
Cep192	T	A	18: 67,974,188 (GRCm39)	I1097N	probably benign	Het
Cimip4	A	C	15: 78,262,992 (GRCm39)	S221A	probably benign	Het
Clvs1	A	T	4: 9,281,885 (GRCm39)	N110Y	possibly damaging	Het
Cntln	A	G	4: 85,019,017 (GRCm39)	T102A	probably benign	Het
Cp	A	C	3: 20,020,570 (GRCm39)	I188L	possibly damaging	Het
Crh	A	G	3: 19,748,291 (GRCm39)	L117P	probably benign	Het
Dcaf1	A	T	9: 106,731,427 (GRCm39)	I635F	possibly damaging	Het
Dennd2c	A	G	3: 103,059,637 (GRCm39)	D521G	probably damaging	Het
E2f2	C	T	4: 135,900,126 (GRCm39)	T12M	possibly damaging	Het
Eid2	G	A	7: 27,967,972 (GRCm39)	R198H	probably damaging	Het
Exosc4	G	T	15: 76,213,279 (GRCm39)	C74F	probably damaging	Het
Fanca	A	T	8: 124,010,694 (GRCm39)		probably benign	Het
Ganc	A	T	2: 120,267,181 (GRCm39)	Q499L	probably null	Het
Gfy	T	C	7: 44,827,710 (GRCm39)	T129A	possibly damaging	Het
Gli3	G	T	13: 15,901,360 (GRCm39)	M1582I	possibly damaging	Het
Gm4744	A	G	6: 40,926,402 (GRCm39)	S63P		Het
Htr2b	T	C	1: 86,027,817 (GRCm39)	T230A	probably benign	Het
Iqcb1	T	A	16: 36,678,836 (GRCm39)	N383K	probably benign	Het
Lpcat1	A	T	13: 73,662,071 (GRCm39)	I471F	probably damaging	Het
Lrch3	T	G	16: 32,829,713 (GRCm39)	L781*	probably null	Het
Lrif1	T	A	3: 106,641,692 (GRCm39)	S3T	probably damaging	Het
Lrp2	T	A	2: 69,261,431 (GRCm39)	R4503S	possibly damaging	Het
Lrrc8c	T	C	5: 105,756,310 (GRCm39)	I695T	probably damaging	Het
Mak	G	A	13: 41,193,146 (GRCm39)	T473M	possibly damaging	Het
Map2k5	A	T	9: 63,279,019 (GRCm39)	Y62N	probably damaging	Het
Mbd3l2	T	C	9: 18,356,299 (GRCm39)	L208P	probably damaging	Het
Myo18b	T	C	5: 112,840,062 (GRCm39)	E2577G	probably damaging	Het
Nfia	A	T	4: 97,953,644 (GRCm39)	T461S	probably benign	Het
Oaz3	A	G	3: 94,343,741 (GRCm39)	Y41H	probably damaging	Het
Or10ab5	T	A	7: 108,245,370 (GRCm39)	I138F	probably damaging	Het
Or1p1	C	A	11: 74,180,315 (GRCm39)	T281K	noncoding transcript	Het
Or2ad1	A	G	13: 21,326,295 (GRCm39)	S311P	probably benign	Het
Or51m1	T	C	7: 103,578,783 (GRCm39)	V251A	possibly damaging	Het
Pin1rt1	T	C	2: 104,544,892 (GRCm39)	E80G	probably damaging	Het
Polr2b	T	C	5: 77,468,062 (GRCm39)	S121P	possibly damaging	Het
Ppm1e	C	T	11: 87,122,101 (GRCm39)	G619R	probably benign	Het
Pramel5	T	A	4: 143,999,395 (GRCm39)	M231L	probably damaging	Het
Prex2	G	T	1: 11,270,194 (GRCm39)	C1293F	probably benign	Het
Psg20	A	G	7: 18,416,562 (GRCm39)	F185L	probably benign	Het
Psg28	A	G	7: 18,156,864 (GRCm39)	V457A	probably benign	Het
Pxmp2	A	G	5: 110,422,445 (GRCm39)	L188P	probably damaging	Het
Scd3	A	T	19: 44,227,003 (GRCm39)	N279I	possibly damaging	Het
Scg2	T	G	1: 79,414,236 (GRCm39)	K162N	possibly damaging	Het
Sipa1l2	T	C	8: 126,149,372 (GRCm39)	E1629G	probably benign	Het
Slc27a2	T	A	2: 126,395,515 (GRCm39)	F147L	probably benign	Het
Smco1	T	C	16: 32,092,557 (GRCm39)	V76A	probably benign	Het
Spic	T	C	10: 88,511,923 (GRCm39)	K111R	probably damaging	Het
Spidr	A	G	16: 15,786,390 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,063,906 (GRCm39)	I1971F	possibly damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Tiam1	G	A	16: 89,695,037 (GRCm39)	T140M	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ufl1	T	C	4: 25,250,606 (GRCm39)	E749G	probably benign	Het
Vmn1r168	G	T	7: 23,240,487 (GRCm39)	V115F	possibly damaging	Het
Wars2	G	A	3: 99,094,965 (GRCm39)	V87I	probably benign	Het
Zdhhc14	T	A	17: 5,736,031 (GRCm39)	C170S	probably damaging	Het
Zfp113	C	T	5: 138,143,296 (GRCm39)	C318Y	possibly damaging	Het
Zfp367	A	G	13: 64,300,482 (GRCm39)	S108P	probably benign	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
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'- AATTCCTATCCCCGAGCTTG -3'
(R):5'- AGTCACGAATCCAACGCATG -3'

Sequencing Primer
(F):5'- TTGATGTAAGTAATAAATGTGGGGC -3'
(R):5'- TCCAACGCATGTTACTACAAATCTGG -3'

Posted On

2020-07-28