Incidental Mutation 'IGL02543:Plekhm2'
ID298290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhm2
Ensembl Gene ENSMUSG00000028917
Gene Namepleckstrin homology domain containing, family M (with RUN domain) member 2
Synonyms2310034J19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02543
Quality Score
Status
Chromosome4
Chromosomal Location141625734-141664899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 141642019 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 118 (G118D)
Ref Sequence ENSEMBL: ENSMUSP00000030751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000084203]
Predicted Effect probably benign
Transcript: ENSMUST00000030751
AA Change: G118D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: G118D

DomainStartEndE-ValueType
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: G118D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: G118D

DomainStartEndE-ValueType
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,918,095 A193S probably damaging Het
Adcy4 T C 14: 55,769,170 T1069A probably benign Het
Arg2 A T 12: 79,150,759 I184F probably benign Het
Asb18 G A 1: 90,014,391 P63S probably damaging Het
Cd163l1 A G 7: 140,220,578 M91V probably benign Het
Cep85 T C 4: 134,156,323 H85R possibly damaging Het
Chfr A G 5: 110,143,547 probably null Het
Cog2 A G 8: 124,529,959 N148S probably benign Het
Csgalnact1 T C 8: 68,461,068 T162A probably damaging Het
Ddi1 C T 9: 6,266,183 G62D possibly damaging Het
Dhx33 T C 11: 70,987,240 Y435C probably damaging Het
Dsc3 A T 18: 19,965,828 C765S probably benign Het
Egfem1 T A 3: 29,668,380 D362E probably benign Het
Gm10093 A G 17: 78,491,874 E98G probably damaging Het
Gm28040 A T 1: 133,319,331 I26F possibly damaging Het
Gm28778 T C 1: 53,299,043 M22T probably benign Het
Hipk2 A G 6: 38,703,501 I968T possibly damaging Het
Hlx T G 1: 184,730,751 S235R probably damaging Het
Jag1 T C 2: 137,091,947 probably benign Het
Kdr A G 5: 75,964,947 probably benign Het
Klhl3 T C 13: 58,018,871 E435G probably damaging Het
L3mbtl4 T C 17: 68,461,612 probably benign Het
Large1 T A 8: 73,048,414 M223L probably benign Het
Lrp1b T C 2: 40,870,401 K2838E possibly damaging Het
Ncan T C 8: 70,108,571 D582G probably benign Het
Nedd9 T C 13: 41,316,735 D314G probably damaging Het
Nip7 T C 8: 107,058,193 probably benign Het
Olfr1408 T G 1: 173,130,334 K294N probably damaging Het
Olfr629 A T 7: 103,740,503 C246S possibly damaging Het
Olfr8 C A 10: 78,955,939 H245N probably damaging Het
P3h1 T C 4: 119,237,856 probably benign Het
Pcp4l1 C T 1: 171,175,564 probably benign Het
Prkg1 T C 19: 30,624,734 D374G possibly damaging Het
Ptcd1 A G 5: 145,154,687 L534P possibly damaging Het
Rnf123 A G 9: 108,066,348 S563P probably damaging Het
Sdk2 A T 11: 113,868,921 I418N possibly damaging Het
Slc26a4 A G 12: 31,528,689 I655T possibly damaging Het
Syne1 T C 10: 5,043,618 K524R probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tbc1d22a C T 15: 86,239,171 A135V probably benign Het
Tenm3 A C 8: 48,298,956 W942G probably damaging Het
Thsd7b G A 1: 130,165,103 V1247I probably benign Het
Treml1 A G 17: 48,360,431 T115A possibly damaging Het
Ttn T C 2: 76,709,962 T34227A probably benign Het
Ugt2b38 T A 5: 87,423,483 D230V probably benign Het
Vmn1r203 G A 13: 22,524,904 G285D probably damaging Het
Vmn2r76 A G 7: 86,230,148 S315P probably benign Het
Vmn2r98 T G 17: 19,065,821 S194A probably benign Het
Wdr1 G A 5: 38,545,822 S137F probably damaging Het
Wnt7b C T 15: 85,558,896 probably benign Het
Zfp668 A T 7: 127,868,322 C27* probably null Het
Other mutations in Plekhm2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 On2015-04-16