Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Plekhm2'

306082

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 #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

141625734-141664899 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141634272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 307 (T307A)

Ref Sequence

ENSEMBL: ENSMUSP00000081221 (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: T287A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: T287A

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: T307A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: T307A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	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
IGL01392:Plekhm2	APN	4	141642426	missense	probably damaging	0.98
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
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
R8851:Plekhm2	UTSW	4	141631328	missense	probably benign	0.04
R8855:Plekhm2	UTSW	4	141634347	missense	probably benign	0.03
R9051:Plekhm2	UTSW	4	141632421	missense	possibly damaging	0.50
R9080:Plekhm2	UTSW	4	141631728	missense	probably damaging	1.00
R9252:Plekhm2	UTSW	4	141629132	missense	probably damaging	1.00
R9298:Plekhm2	UTSW	4	141629518	missense	probably benign
R9383:Plekhm2	UTSW	4	141632301	missense	probably damaging	1.00
R9463:Plekhm2	UTSW	4	141630638	missense	probably benign	0.10
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

2015-04-16