Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01392:Plekhm2'

79249

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01392

Quality Score

Status

Chromosome

Chromosomal Location

141625734-141664899 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141642426 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000030751 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030751
AA Change: V86A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: V86A

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

possibly damaging
Transcript: ENSMUST00000084203
AA Change: V86A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: V86A

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: ENSMUST00000140223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141844

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,500,546	V2A	probably benign	Het
Adgrf5	A	T	17: 43,450,012	Q866L	probably benign	Het
Ankrd13a	A	G	5: 114,797,853	E295G	probably benign	Het
Arid1a	T	C	4: 133,681,037	D2053G	unknown	Het
Calr4	A	G	4: 109,253,874	E272G	probably benign	Het
Cmya5	T	C	13: 93,089,206	S3125G	probably damaging	Het
Dnah7b	T	C	1: 46,126,788	Y538H	probably damaging	Het
Eri3	T	C	4: 117,589,159		probably null	Het
Fmo6	T	A	1: 162,930,011	R63*	probably null	Het
Gm7168	G	A	17: 13,948,907	D179N	probably benign	Het
Gm8979	T	C	7: 106,083,755	I98V	probably benign	Het
Got1l1	T	C	8: 27,197,991	T337A	probably damaging	Het
Igf2r	A	G	17: 12,704,349	M1191T	probably benign	Het
Ighv1-54	A	G	12: 115,193,937	L30P	probably damaging	Het
Igkv8-30	A	G	6: 70,117,347	S27P	probably benign	Het
Kcnab2	A	T	4: 152,393,797	V335E	possibly damaging	Het
Klf12	A	T	14: 100,149,757	I3N	probably damaging	Het
Megf8	T	C	7: 25,363,749	V2510A	probably benign	Het
Mme	A	G	3: 63,362,046	D592G	probably damaging	Het
Myh1	A	G	11: 67,221,301	N1727S	probably benign	Het
Ncor1	A	G	11: 62,340,594	S796P	probably damaging	Het
Nlrp14	A	G	7: 107,197,913		probably benign	Het
Olfr1443	T	A	19: 12,680,803	Y232N	probably benign	Het
Olfr508	C	T	7: 108,630,678	R229C	probably benign	Het
Olfr564	T	A	7: 102,803,854	Y125*	probably null	Het
Popdc2	G	T	16: 38,374,131	V305L	probably benign	Het
Prpmp5	T	C	6: 132,312,420	N147S	unknown	Het
Rttn	C	T	18: 88,995,613	H469Y	probably benign	Het
Slc2a12	T	C	10: 22,664,684	V146A	probably damaging	Het
Sptlc3	A	G	2: 139,546,421	E111G	possibly damaging	Het
Zfp108	T	C	7: 24,258,447		probably benign	Het
Zfp719	T	A	7: 43,591,130	F714Y	probably damaging	Het

Other mutations in Plekhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Plekhm2	APN	4	141642645	splice site	probably null
IGL01388:Plekhm2	APN	4	141642001	missense	probably damaging	1.00
IGL01482:Plekhm2	APN	4	141630029	missense	probably damaging	0.98
IGL01828:Plekhm2	APN	4	141629585	missense	probably benign	0.11
IGL02010:Plekhm2	APN	4	141637419	splice site	probably benign
IGL02075:Plekhm2	APN	4	141628306	missense	probably benign	0.38
IGL02381:Plekhm2	APN	4	141642723	missense	possibly damaging	0.95
IGL02543:Plekhm2	APN	4	141642019	missense	probably benign	0.02
IGL02747:Plekhm2	APN	4	141634272	missense	possibly damaging	0.55
IGL02802:Plekhm2	APN	4	141642524	splice site	probably benign
IGL02828:Plekhm2	APN	4	141629630	missense	probably damaging	1.00
IGL03286:Plekhm2	APN	4	141634347	missense	possibly damaging	0.95
R0008:Plekhm2	UTSW	4	141642393	splice site	probably benign
R0008:Plekhm2	UTSW	4	141642393	splice site	probably benign
R0639:Plekhm2	UTSW	4	141642070	missense	probably damaging	1.00
R0682:Plekhm2	UTSW	4	141628125	missense	probably damaging	0.97
R0968:Plekhm2	UTSW	4	141629932	missense	probably benign	0.01
R1109:Plekhm2	UTSW	4	141627984	missense	probably benign	0.31
R1475:Plekhm2	UTSW	4	141627854	missense	possibly damaging	0.75
R1802:Plekhm2	UTSW	4	141634347	missense	probably benign	0.03
R1813:Plekhm2	UTSW	4	141642439	missense	possibly damaging	0.93
R1844:Plekhm2	UTSW	4	141632374	missense	probably benign
R2261:Plekhm2	UTSW	4	141642732	missense	probably damaging	0.98
R3889:Plekhm2	UTSW	4	141641990	splice site	probably benign
R3922:Plekhm2	UTSW	4	141629532	missense	probably benign	0.01
R4324:Plekhm2	UTSW	4	141631857	missense	possibly damaging	0.86
R4758:Plekhm2	UTSW	4	141642005	missense	possibly damaging	0.91
R4814:Plekhm2	UTSW	4	141627839	missense	probably benign	0.00
R4983:Plekhm2	UTSW	4	141634376	missense	probably damaging	1.00
R5468:Plekhm2	UTSW	4	141628100	missense	probably damaging	1.00
R5691:Plekhm2	UTSW	4	141628289	missense	possibly damaging	0.96
R5877:Plekhm2	UTSW	4	141639693	missense	probably damaging	0.98
R6268:Plekhm2	UTSW	4	141632341	nonsense	probably null
R6367:Plekhm2	UTSW	4	141639705	missense	probably damaging	0.97
R6371:Plekhm2	UTSW	4	141629532	missense	possibly damaging	0.94
R6489:Plekhm2	UTSW	4	141632033	missense	probably damaging	1.00
R7266:Plekhm2	UTSW	4	141642459	missense	possibly damaging	0.91
R7399:Plekhm2	UTSW	4	141634376	missense	probably damaging	1.00
R7573:Plekhm2	UTSW	4	141631347	missense	probably benign	0.02
R7742:Plekhm2	UTSW	4	141627839	missense	probably benign	0.00
R7864:Plekhm2	UTSW	4	141628046	missense	probably damaging	0.96
R7920:Plekhm2	UTSW	4	141632121	missense	probably damaging	1.00
R8417:Plekhm2	UTSW	4	141627825	missense	probably benign	0.04
R8462:Plekhm2	UTSW	4	141639819	missense	probably damaging	1.00
R8504:Plekhm2	UTSW	4	141642453	missense	probably damaging	1.00
T0722:Plekhm2	UTSW	4	141631981	small deletion	probably benign
T0975:Plekhm2	UTSW	4	141631981	small deletion	probably benign
X0024:Plekhm2	UTSW	4	141628041	missense	probably damaging	1.00
Z1177:Plekhm2	UTSW	4	141629085	missense	possibly damaging	0.77
Z1177:Plekhm2	UTSW	4	141639822	missense	possibly damaging	0.73

Posted On

2013-11-05