Mutagenetix > Incidental Mutations

Incidental Mutation 'T0975:Plekhm2'

262160

Institutional Source

Beutler Lab

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 #

T0975 (G3) of strain 714

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

141625734-141664899 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TTCCTCCTCCT to TTCCTCCT at 141631981 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081221 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030751

SMART Domains

Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917

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

SMART Domains

Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917

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

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,937,945		probably null	Het
4930556J24Rik	C	T	11: 3,976,324	A27T	unknown	Het
Ago3	C	T	4: 126,404,263	V155I	probably benign	Het
Ago3	C	T	4: 126,404,305	A141T	probably benign	Het
Ago3	G	A	4: 126,404,310	A139V	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 133,062,754		probably benign	Het
Azin2	A	G	4: 128,946,134	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,229,464		probably null	Het
Ccdc157	C	T	11: 4,146,246	A455T	probably damaging	Het
Ccng1	A	C	11: 40,754,044	S9A	probably benign	Het
Cfh	T	C	1: 140,154,598	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 72,462,034		probably benign	Het
Chrng	T	C	1: 87,210,626	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,566,437		probably benign	Het
Ctrc	T	TA	4: 141,845,196		probably null	Het
Cxxc1	C	T	18: 74,220,921	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,516,955	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,763,066	S1255G	probably benign	Het
Dpep1	A	T	8: 123,200,988	S388C	probably damaging	Het
Emid1	A	C	11: 5,128,884	L353V	probably benign	Het
Emid1	T	C	11: 5,144,386	T42A	probably damaging	Het
Epn3	A	G	11: 94,491,907		probably null	Het
Fam124b	T	C	1: 80,213,126	E180G	probably benign	Het
Fam135b	T	G	15: 71,463,885	T487P	probably damaging	Het
Gatsl3	G	C	11: 4,220,445	G147A	probably benign	Het
Gja4	G	C	4: 127,312,231	H246Q	probably benign	Het
Gm7534	GTG	GTGCTG	4: 134,202,629		probably benign	Het
Gm9972	GA	GAA	11: 43,036,770		probably null	Het
Hmmr	G	C	11: 40,723,416	N148K	probably damaging	Het
Homez	C	T	14: 54,857,339	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,609,473	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,502,527	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,171,423		probably benign	Het
Kremen1	C	T	11: 5,195,105	A424T	probably benign	Het
Mat2b	G	A	11: 40,680,091	T302I	probably benign	Het
Mtmr3	C	T	11: 4,488,441	R671K	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,599,750		probably benign	Het
Nacad	T	C	11: 6,601,622	N523S	probably benign	Het
Nacad	A	G	11: 6,601,632	C520R	probably benign	Het
Nefh	G	A	11: 4,940,151	P823S	probably benign	Het
Nfrkb	G	C	9: 31,397,083	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,449,637	E223G	probably damaging	Het
Notch3	T	A	17: 32,146,417	Y1107F	probably damaging	Het
Olfr1331	G	T	4: 118,869,303	R174M	probably benign	Het
Olfr309	A	T	7: 86,306,284	Y276*	probably null	Het
Olfr781	A	G	10: 129,333,445	D188G	probably benign	Het
Osm	A	G	11: 4,239,588	D124G	probably benign	Het
Pomgnt1	C	T	4: 116,137,427		probably benign	Het
Spen	A	G	4: 141,474,353	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 133,256,994		probably benign	Het
Tcn2	G	C	11: 3,923,487	F286L	possibly damaging	Het
Tg	T	C	15: 66,688,863	S10P	probably benign	Het
Tmprss7	C	T	16: 45,680,733	R235Q	probably benign	Het
Tns3	G	T	11: 8,451,146	L1051M	probably benign	Het
Tns3	T	G	11: 8,479,518	E806A	probably benign	Het
Tns3	G	A	11: 8,549,100		probably benign	Het
Toe1	T	C	4: 116,806,093	I62M	probably benign	Het
Txnrd2	A	G	16: 18,475,565	H436R	probably damaging	Het
Ubr4	C	T	4: 139,451,781	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,713,161	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,360,019		probably benign	Het
Zbtb8a	T	C	4: 129,360,212	H163R	probably benign	Het
Zfyve21	A	G	12: 111,827,633	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,479,200		probably benign	Het
Zmym1	C	T	4: 127,047,947	D785N	probably benign	Het
Zmym1	C	T	4: 127,048,250	V684I	probably benign	Het
Zmym1	A	C	4: 127,049,673	H307Q	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
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
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

Predicted Primers

Posted On

2015-02-04