Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01828:Plekhm2'

154712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhm2

Ensembl Gene

ENSMUSG00000028917

Gene Name

pleckstrin homology domain containing, family M (with RUN domain) member 2

Synonyms

2310034J19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01828

Quality Score

Status

Chromosome

Chromosomal Location

141353043-141391457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141356896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 749 (E749G)

Ref Sequence

ENSEMBL: ENSMUSP00000030751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000084203]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030751
AA Change: E749G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: E749G

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	230	246	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
low complexity region	485	495	N/A	INTRINSIC
low complexity region	505	538	N/A	INTRINSIC
Blast:PH	596	656	7e-31	BLAST
PH	766	869	2.43e-12	SMART
Blast:PH	879	960	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000084203
AA Change: E769G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: E769G

Domain	Start	End	E-Value	Type
RUN	93	156	3.18e-21	SMART
low complexity region	250	266	N/A	INTRINSIC
low complexity region	315	327	N/A	INTRINSIC
low complexity region	479	489	N/A	INTRINSIC
low complexity region	505	515	N/A	INTRINSIC
low complexity region	525	558	N/A	INTRINSIC
Blast:PH	616	676	7e-31	BLAST
PH	786	889	2.43e-12	SMART
Blast:PH	899	980	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150229

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased leukocyte numbers and decreased susceptibility to Salmonella infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,521 (GRCm39)	I1151V	probably benign	Het
Abcc4	C	T	14: 118,790,691 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,658,615 (GRCm39)		probably benign	Het
Car4	C	A	11: 84,855,571 (GRCm39)	Q198K	probably benign	Het
Ces1a	T	C	8: 93,751,829 (GRCm39)	H435R	probably damaging	Het
Chdh	T	A	14: 29,758,565 (GRCm39)	F503L	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dse	T	A	10: 34,028,772 (GRCm39)	T773S	probably damaging	Het
Fbxw11	T	A	11: 32,670,505 (GRCm39)	L123H	probably damaging	Het
Gigyf2	A	G	1: 87,346,820 (GRCm39)	D550G	probably damaging	Het
Gm45844	T	C	7: 7,234,322 (GRCm39)		probably null	Het
Krcc1	T	A	6: 71,261,351 (GRCm39)	Y128N	probably damaging	Het
Myh8	T	C	11: 67,194,652 (GRCm39)	M1621T	possibly damaging	Het
Notch2	T	A	3: 97,979,929 (GRCm39)	C148S	probably damaging	Het
Plcg2	C	A	8: 118,316,972 (GRCm39)	H616Q	probably damaging	Het
Plec	T	C	15: 76,067,955 (GRCm39)	E1218G	probably damaging	Het
Slco1a6	C	T	6: 142,042,137 (GRCm39)	V480M	probably damaging	Het
Vmn1r88	C	T	7: 12,911,662 (GRCm39)	T6I	probably damaging	Het
Vmn2r14	A	G	5: 109,372,443 (GRCm39)	F16L	possibly damaging	Het
Ywhab	G	A	2: 163,853,694 (GRCm39)	R57H	possibly damaging	Het

Other mutations in Plekhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Plekhm2	APN	4	141,369,956 (GRCm39)	splice site	probably null
IGL01388:Plekhm2	APN	4	141,369,312 (GRCm39)	missense	probably damaging	1.00
IGL01392:Plekhm2	APN	4	141,369,737 (GRCm39)	missense	probably damaging	0.98
IGL01482:Plekhm2	APN	4	141,357,340 (GRCm39)	missense	probably damaging	0.98
IGL02010:Plekhm2	APN	4	141,364,730 (GRCm39)	splice site	probably benign
IGL02075:Plekhm2	APN	4	141,355,617 (GRCm39)	missense	probably benign	0.38
IGL02381:Plekhm2	APN	4	141,370,034 (GRCm39)	missense	possibly damaging	0.95
IGL02543:Plekhm2	APN	4	141,369,330 (GRCm39)	missense	probably benign	0.02
IGL02747:Plekhm2	APN	4	141,361,583 (GRCm39)	missense	possibly damaging	0.55
IGL02802:Plekhm2	APN	4	141,369,835 (GRCm39)	splice site	probably benign
IGL02828:Plekhm2	APN	4	141,356,941 (GRCm39)	missense	probably damaging	1.00
IGL03286:Plekhm2	APN	4	141,361,658 (GRCm39)	missense	possibly damaging	0.95
R0008:Plekhm2	UTSW	4	141,369,704 (GRCm39)	splice site	probably benign
R0008:Plekhm2	UTSW	4	141,369,704 (GRCm39)	splice site	probably benign
R0639:Plekhm2	UTSW	4	141,369,381 (GRCm39)	missense	probably damaging	1.00
R0682:Plekhm2	UTSW	4	141,355,436 (GRCm39)	missense	probably damaging	0.97
R0968:Plekhm2	UTSW	4	141,357,243 (GRCm39)	missense	probably benign	0.01
R1109:Plekhm2	UTSW	4	141,355,295 (GRCm39)	missense	probably benign	0.31
R1475:Plekhm2	UTSW	4	141,355,165 (GRCm39)	missense	possibly damaging	0.75
R1802:Plekhm2	UTSW	4	141,361,658 (GRCm39)	missense	probably benign	0.03
R1813:Plekhm2	UTSW	4	141,369,750 (GRCm39)	missense	possibly damaging	0.93
R1844:Plekhm2	UTSW	4	141,359,685 (GRCm39)	missense	probably benign
R2261:Plekhm2	UTSW	4	141,370,043 (GRCm39)	missense	probably damaging	0.98
R3889:Plekhm2	UTSW	4	141,369,301 (GRCm39)	splice site	probably benign
R3922:Plekhm2	UTSW	4	141,356,843 (GRCm39)	missense	probably benign	0.01
R4324:Plekhm2	UTSW	4	141,359,168 (GRCm39)	missense	possibly damaging	0.86
R4758:Plekhm2	UTSW	4	141,369,316 (GRCm39)	missense	possibly damaging	0.91
R4814:Plekhm2	UTSW	4	141,355,150 (GRCm39)	missense	probably benign	0.00
R4983:Plekhm2	UTSW	4	141,361,687 (GRCm39)	missense	probably damaging	1.00
R5468:Plekhm2	UTSW	4	141,355,411 (GRCm39)	missense	probably damaging	1.00
R5691:Plekhm2	UTSW	4	141,355,600 (GRCm39)	missense	possibly damaging	0.96
R5877:Plekhm2	UTSW	4	141,367,004 (GRCm39)	missense	probably damaging	0.98
R6268:Plekhm2	UTSW	4	141,359,652 (GRCm39)	nonsense	probably null
R6367:Plekhm2	UTSW	4	141,367,016 (GRCm39)	missense	probably damaging	0.97
R6371:Plekhm2	UTSW	4	141,356,843 (GRCm39)	missense	possibly damaging	0.94
R6489:Plekhm2	UTSW	4	141,359,344 (GRCm39)	missense	probably damaging	1.00
R7266:Plekhm2	UTSW	4	141,369,770 (GRCm39)	missense	possibly damaging	0.91
R7399:Plekhm2	UTSW	4	141,361,687 (GRCm39)	missense	probably damaging	1.00
R7573:Plekhm2	UTSW	4	141,358,658 (GRCm39)	missense	probably benign	0.02
R7742:Plekhm2	UTSW	4	141,355,150 (GRCm39)	missense	probably benign	0.00
R7864:Plekhm2	UTSW	4	141,355,357 (GRCm39)	missense	probably damaging	0.96
R7920:Plekhm2	UTSW	4	141,359,432 (GRCm39)	missense	probably damaging	1.00
R8417:Plekhm2	UTSW	4	141,355,136 (GRCm39)	missense	probably benign	0.04
R8462:Plekhm2	UTSW	4	141,367,130 (GRCm39)	missense	probably damaging	1.00
R8504:Plekhm2	UTSW	4	141,369,764 (GRCm39)	missense	probably damaging	1.00
R8851:Plekhm2	UTSW	4	141,358,639 (GRCm39)	missense	probably benign	0.04
R8855:Plekhm2	UTSW	4	141,361,658 (GRCm39)	missense	probably benign	0.03
R9051:Plekhm2	UTSW	4	141,359,732 (GRCm39)	missense	possibly damaging	0.50
R9080:Plekhm2	UTSW	4	141,359,039 (GRCm39)	missense	probably damaging	1.00
R9252:Plekhm2	UTSW	4	141,356,443 (GRCm39)	missense	probably damaging	1.00
R9298:Plekhm2	UTSW	4	141,356,829 (GRCm39)	missense	probably benign
R9383:Plekhm2	UTSW	4	141,359,612 (GRCm39)	missense	probably damaging	1.00
R9463:Plekhm2	UTSW	4	141,357,949 (GRCm39)	missense	probably benign	0.10
T0722:Plekhm2	UTSW	4	141,359,292 (GRCm39)	small deletion	probably benign
T0975:Plekhm2	UTSW	4	141,359,292 (GRCm39)	small deletion	probably benign
X0024:Plekhm2	UTSW	4	141,355,352 (GRCm39)	missense	probably damaging	1.00
Z1177:Plekhm2	UTSW	4	141,367,133 (GRCm39)	missense	possibly damaging	0.73
Z1177:Plekhm2	UTSW	4	141,356,396 (GRCm39)	missense	possibly damaging	0.77

Posted On

2014-02-04