Incidental Mutation 'IGL02828:Plekhm2'
ID361314
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 #IGL02828
Quality Score
Status
Chromosome4
Chromosomal Location141625734-141664899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 141629630 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 754 (V754E)
Ref Sequence ENSEMBL: ENSMUSP00000081221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000084203]
Predicted Effect probably damaging
Transcript: ENSMUST00000030751
AA Change: V734E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: V734E

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 damaging
Transcript: ENSMUST00000084203
AA Change: V754E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: V754E

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: 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik C A 18: 12,189,221 A577D possibly damaging Het
Abca8b G A 11: 109,980,894 T86I probably damaging Het
Adam28 C T 14: 68,646,870 S93N possibly damaging Het
Adamts6 T C 13: 104,297,470 Y136H probably damaging Het
Ahdc1 A T 4: 133,062,921 K491I possibly damaging Het
AI314180 A G 4: 58,875,512 S151P possibly damaging Het
Alb C A 5: 90,467,388 A253E probably benign Het
Asb18 A G 1: 89,996,210 probably null Het
Asxl3 T A 18: 22,524,661 N1909K possibly damaging Het
Atp12a T A 14: 56,376,142 V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 G334W probably damaging Het
Catsperb T A 12: 101,480,782 I223K probably benign Het
Clec2h T A 6: 128,675,922 H217Q probably benign Het
Col6a3 T C 1: 90,796,559 E1416G probably damaging Het
Dcaf1 T A 9: 106,844,302 probably benign Het
Ddr2 C T 1: 169,988,513 A542T probably benign Het
Ebf3 T C 7: 137,307,518 N174S probably damaging Het
Ephb2 A G 4: 136,771,150 I206T probably benign Het
Fam214a G T 9: 75,006,432 A123S probably damaging Het
Fbxo39 T A 11: 72,317,215 I131N possibly damaging Het
Fdxacb1 G A 9: 50,771,564 V276I possibly damaging Het
Gm13023 A T 4: 143,795,125 D437V possibly damaging Het
Gpr146 A T 5: 139,392,821 Y126F probably damaging Het
Hivep3 A T 4: 120,097,732 K1082* probably null Het
Ifnar1 T A 16: 91,505,416 probably null Het
Kap A G 6: 133,852,094 V25A probably benign Het
Klhl2 C A 8: 64,779,757 R162L probably damaging Het
Kmt2a A G 9: 44,821,947 probably benign Het
Lrp4 A G 2: 91,475,294 N303S probably benign Het
Mtpap A T 18: 4,386,207 N276Y probably damaging Het
Nlrp5 G A 7: 23,421,460 G684S possibly damaging Het
Olfr1513 T C 14: 52,349,342 R235G probably benign Het
Olfr294 A T 7: 86,616,069 V192E possibly damaging Het
Pak2 A T 16: 32,021,856 L469H probably damaging Het
Pcdhb15 T A 18: 37,473,850 L45Q probably damaging Het
Pi4ka A T 16: 17,280,711 probably benign Het
Picalm A G 7: 90,177,501 T386A probably benign Het
Pkd1l2 T C 8: 117,029,559 T1645A probably benign Het
Rbl1 T A 2: 157,199,464 E81V probably damaging Het
Rbp4 C A 19: 38,118,269 probably null Het
Rdh12 T C 12: 79,218,685 V211A probably damaging Het
Ret G A 6: 118,176,207 A500V probably benign Het
Rin1 T C 19: 5,053,090 F469S possibly damaging Het
Rsc1a1 G T 4: 141,684,168 P478T probably damaging Het
Setd2 A T 9: 110,561,214 Y1579F probably benign Het
Sh3bp5 A T 14: 31,434,149 probably benign Het
Slc22a13 G T 9: 119,195,707 L235I probably benign Het
Slc6a11 A T 6: 114,134,987 T172S possibly damaging Het
Slitrk1 G T 14: 108,911,616 S554R possibly damaging Het
Tg G A 15: 66,682,394 G553S probably damaging Het
Tmem26 G A 10: 68,775,385 probably null Het
Trpm2 A T 10: 77,918,986 L1222Q probably benign Het
Vdac2 T C 14: 21,843,889 V249A probably benign Het
Vmn1r170 T C 7: 23,606,518 V115A probably damaging Het
Vmn2r105 A G 17: 20,209,083 V577A possibly damaging Het
Xpo1 A G 11: 23,282,593 E371G probably damaging Het
Zfp106 A C 2: 120,531,697 H980Q possibly damaging 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
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
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
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
Posted On2015-12-18