Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:Pmpcb'

487676

Institutional Source

Beutler Lab

Gene Symbol

Pmpcb

Ensembl Gene

ENSMUSG00000029017

Gene Name

peptidase (mitochondrial processing) beta

Synonyms

MPP11, 3110004O18Rik, MPPP52

MMRRC Submission

044317-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21942158-21962150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21962031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 487 (I487V)

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 benign
Transcript: ENSMUST00000030882
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: I487V

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

noncoding transcript
Transcript: ENSMUST00000125693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152440

Predicted Effect

probably benign
Transcript: ENSMUST00000141022

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,448 (GRCm39)	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,460,016 (GRCm39)	S227C	possibly damaging	Het
Adam30	A	T	3: 98,070,266 (GRCm39)	I700F	probably damaging	Het
Adam5	A	T	8: 25,276,167 (GRCm39)	M500K	probably benign	Het
Adgb	A	T	10: 10,274,687 (GRCm39)	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,534,124 (GRCm39)	G5819D	probably damaging	Het
Ank3	T	A	10: 69,763,557 (GRCm39)	Y17N	probably damaging	Het
Ano2	A	T	6: 125,969,918 (GRCm39)	M745L	probably benign	Het
Arap2	A	G	5: 62,872,074 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,291,759 (GRCm39)		probably benign	Het
AU021092	G	T	16: 5,038,312 (GRCm39)		probably null	Het
Bbs1	A	T	19: 4,940,749 (GRCm39)	L578Q	probably damaging	Het
Brd9	A	T	13: 74,108,433 (GRCm39)	E589D	probably damaging	Het
Calr4	A	G	4: 109,101,442 (GRCm39)	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,798 (GRCm39)	D429G	probably damaging	Het
Cdh22	G	T	2: 164,988,550 (GRCm39)	N268K	probably damaging	Het
Ceacam12	G	A	7: 17,801,312 (GRCm39)	G97D	probably damaging	Het
Clcn1	A	G	6: 42,291,096 (GRCm39)	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,801,004 (GRCm39)	T84A	probably benign	Het
Dnah7a	G	A	1: 53,472,181 (GRCm39)	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,230,105 (GRCm39)		probably benign	Het
Ehd2	G	A	7: 15,697,389 (GRCm39)	Q4*	probably null	Het
Eml5	A	G	12: 98,760,715 (GRCm39)	V1726A	possibly damaging	Het
Esam	A	G	9: 37,439,544 (GRCm39)	T10A	probably benign	Het
Fbxl6	A	G	15: 76,422,633 (GRCm39)	L95P	probably benign	Het
Fbxw18	T	A	9: 109,505,947 (GRCm39)	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,624,766 (GRCm39)	S73P	probably benign	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Foxp1	G	A	6: 98,943,037 (GRCm39)	T237I	probably damaging	Het
Greb1	A	T	12: 16,724,771 (GRCm39)	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa13	G	T	6: 52,236,908 (GRCm39)	N281K	probably damaging	Het
Hspg2	A	G	4: 137,296,829 (GRCm39)	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,882,474 (GRCm39)	Y153*	probably null	Het
Iglv1	C	A	16: 18,903,844 (GRCm39)	A92S	probably damaging	Het
Itih1	A	G	14: 30,653,152 (GRCm39)	S759P	probably damaging	Het
Kctd1	G	T	18: 15,102,688 (GRCm39)	S831*	probably null	Het
Kif20a	T	A	18: 34,761,199 (GRCm39)	S265T	probably damaging	Het
Kif22	T	A	7: 126,630,228 (GRCm39)	E436V	possibly damaging	Het
Kif27	A	G	13: 58,459,051 (GRCm39)	W927R	probably damaging	Het
Lcorl	G	A	5: 45,933,832 (GRCm39)	P66L	probably damaging	Het
Lct	A	G	1: 128,255,451 (GRCm39)	L197P	probably damaging	Het
Lefty1	T	C	1: 180,762,714 (GRCm39)	S14P	unknown	Het
Lnp1	A	G	16: 56,737,855 (GRCm39)	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,750,569 (GRCm39)	H927Q	probably benign	Het
Meiosin	C	A	7: 18,834,814 (GRCm39)		probably benign	Het
Mta3	A	G	17: 84,099,222 (GRCm39)	T430A	probably benign	Het
Muc2	G	T	7: 141,282,875 (GRCm39)	C627F	probably damaging	Het
Myh13	A	G	11: 67,245,588 (GRCm39)	D1076G	probably benign	Het
Nck2	T	A	1: 43,572,729 (GRCm39)	M1K	probably null	Het
Nipal1	A	G	5: 72,820,898 (GRCm39)	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,077,426 (GRCm39)		probably null	Het
Nr2f2	A	G	7: 70,007,946 (GRCm39)	S179P	probably damaging	Het
Or1j16	A	G	2: 36,530,063 (GRCm39)	D4G	probably benign	Het
Or1j21	A	T	2: 36,683,980 (GRCm39)	H244L	probably damaging	Het
Or9g19	A	T	2: 85,600,652 (GRCm39)	N169I	probably benign	Het
Oxt	G	T	2: 130,418,163 (GRCm39)		probably benign	Het
Pank2	T	A	2: 131,122,181 (GRCm39)	Y235*	probably null	Het
Pear1	A	G	3: 87,659,440 (GRCm39)	L798P	possibly damaging	Het
Pex14	T	C	4: 149,046,156 (GRCm39)	H258R	probably benign	Het
Ppie	T	C	4: 123,031,362 (GRCm39)	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639 (GRCm39)	R65*	probably null	Het
Ralgapb	T	C	2: 158,288,075 (GRCm39)	S371P	probably damaging	Het
Ros1	T	C	10: 51,977,881 (GRCm39)	H1455R	probably benign	Het
Sacs	C	A	14: 61,450,275 (GRCm39)	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,622,718 (GRCm39)	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,169,593 (GRCm39)	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,187,508 (GRCm39)	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,840,093 (GRCm39)	L324*	probably null	Het
Slc7a9	A	T	7: 35,165,277 (GRCm39)	Q474L	probably damaging	Het
Smc5	C	A	19: 23,191,534 (GRCm39)	V875L	possibly damaging	Het
Snap91	T	C	9: 86,707,053 (GRCm39)	R246G	probably damaging	Het
Sned1	A	G	1: 93,203,196 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,938 (GRCm39)	G85E	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
St13	A	G	15: 81,283,506 (GRCm39)		probably null	Het
Stk10	A	G	11: 32,553,761 (GRCm39)	M593V	possibly damaging	Het
Tafa1	A	G	6: 96,092,721 (GRCm39)	H35R	probably benign	Het
Tex21	C	A	12: 76,245,707 (GRCm39)	A530S	probably benign	Het
Tln2	T	A	9: 67,131,363 (GRCm39)	K1394N	probably damaging	Het
Trhr2	C	A	8: 123,084,118 (GRCm39)	R294L	probably damaging	Het
Unc79	A	T	12: 103,149,708 (GRCm39)	I2408F	probably damaging	Het
Wdr24	T	C	17: 26,045,552 (GRCm39)	L429P	probably damaging	Het
Wwp2	T	A	8: 108,210,039 (GRCm39)	I139N	possibly damaging	Het
Zfp111	G	A	7: 23,897,554 (GRCm39)	R686C	unknown	Het
Zfp268	A	T	4: 145,350,811 (GRCm39)		probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	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
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

Predicted Primers

PCR Primer
(F):5'- CCTATTGAAGGCTGTGGATGCG -3'
(R):5'- ACATTCAGGGTTGTAGACTTAGC -3'

Sequencing Primer
(F):5'- CGAGTGTGCACCAAGTACATTCATG -3'
(R):5'- CAGGGTTGTAGACTTAGCCTCTAGAG -3'

Posted On

2017-10-10