Incidental Mutation 'R6367:Plekhm2'
ID 512739
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
MMRRC Submission 044517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6367 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141353043-141391457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141367016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 208 (D208G)
Ref Sequence ENSEMBL: ENSMUSP00000030751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000084203]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030751
AA Change: D208G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: D208G

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 possibly damaging
Transcript: ENSMUST00000084203
AA Change: D208G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: D208G

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
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,166,248 (GRCm39) N54D possibly damaging Het
Abca4 A C 3: 121,897,229 (GRCm39) Q636P probably damaging Het
Agk T C 6: 40,363,875 (GRCm39) F285S probably benign Het
Als2 C A 1: 59,238,299 (GRCm39) V678L probably benign Het
Arhgap17 T C 7: 122,907,586 (GRCm39) *231W probably null Het
Atp11b A G 3: 35,838,686 (GRCm39) T89A probably damaging Het
Axl A T 7: 25,486,858 (GRCm39) C50S probably damaging Het
Cachd1 A G 4: 100,860,167 (GRCm39) D1246G probably damaging Het
Dip2b A T 15: 100,013,795 (GRCm39) Q57L possibly damaging Het
Dnah14 A G 1: 181,582,951 (GRCm39) probably null Het
Enpep G T 3: 129,125,730 (GRCm39) T134N possibly damaging Het
Ets1 C T 9: 32,645,256 (GRCm39) Q168* probably null Het
Fanci T C 7: 79,075,943 (GRCm39) C529R probably damaging Het
Fbxw28 A G 9: 109,168,599 (GRCm39) probably null Het
Gucy2c C T 6: 136,686,776 (GRCm39) E796K probably damaging Het
Igsf9b G A 9: 27,220,821 (GRCm39) W62* probably null Het
Kcng1 C A 2: 168,104,572 (GRCm39) V425L probably damaging Het
Kndc1 T C 7: 139,493,422 (GRCm39) S463P probably damaging Het
Lrba G C 3: 86,275,869 (GRCm39) A1746P probably benign Het
Mgat4c G T 10: 102,221,015 (GRCm39) probably null Het
Nckap1l G A 15: 103,384,149 (GRCm39) M582I probably benign Het
Oacyl G T 18: 65,858,515 (GRCm39) R207L probably damaging Het
Or12e13 T C 2: 87,663,937 (GRCm39) C185R probably damaging Het
Or2m12 C T 16: 19,104,822 (GRCm39) V224M probably damaging Het
Or4c52 A G 2: 89,845,360 (GRCm39) I29V probably benign Het
Or51f5 C A 7: 102,424,036 (GRCm39) Q102K possibly damaging Het
Pacsin2 C T 15: 83,266,033 (GRCm39) A55T probably benign Het
Ptpru T C 4: 131,501,663 (GRCm39) D1181G probably benign Het
Safb A G 17: 56,900,845 (GRCm39) probably benign Het
Scp2 T A 4: 107,969,447 (GRCm39) Y35F probably damaging Het
Secisbp2 A G 13: 51,836,177 (GRCm39) Y757C probably damaging Het
Sp110 C T 1: 85,522,013 (GRCm39) V97M probably benign Het
Ssx2ip A G 3: 146,124,921 (GRCm39) Y82C probably benign Het
Svopl A T 6: 37,996,614 (GRCm39) W288R possibly damaging Het
Tdg T C 10: 82,483,822 (GRCm39) Y345H possibly damaging Het
Tmem109 A G 19: 10,851,727 (GRCm39) F53S possibly damaging Het
Tpsab1 G T 17: 25,562,448 (GRCm39) T293N probably damaging Het
Trpm8 A G 1: 88,287,405 (GRCm39) D796G probably damaging Het
Tuba1c T C 15: 98,935,334 (GRCm39) I265T probably damaging Het
Unc80 T C 1: 66,711,925 (GRCm39) V2749A probably benign Het
Utrn A G 10: 12,623,719 (GRCm39) L173P probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wbp2 G T 11: 115,974,741 (GRCm39) T31N probably benign Het
Wdr1 G T 5: 38,703,189 (GRCm39) A129D possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Other mutations in Plekhm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Plekhm2 APN 4 141,369,956 (GRCm39) splice site probably null
IGL01388:Plekhm2 APN 4 141,369,312 (GRCm39) missense probably damaging 1.00
IGL01392:Plekhm2 APN 4 141,369,737 (GRCm39) missense probably damaging 0.98
IGL01482:Plekhm2 APN 4 141,357,340 (GRCm39) missense probably damaging 0.98
IGL01828:Plekhm2 APN 4 141,356,896 (GRCm39) missense probably benign 0.11
IGL02010:Plekhm2 APN 4 141,364,730 (GRCm39) splice site probably benign
IGL02075:Plekhm2 APN 4 141,355,617 (GRCm39) missense probably benign 0.38
IGL02381:Plekhm2 APN 4 141,370,034 (GRCm39) missense possibly damaging 0.95
IGL02543:Plekhm2 APN 4 141,369,330 (GRCm39) missense probably benign 0.02
IGL02747:Plekhm2 APN 4 141,361,583 (GRCm39) missense possibly damaging 0.55
IGL02802:Plekhm2 APN 4 141,369,835 (GRCm39) splice site probably benign
IGL02828:Plekhm2 APN 4 141,356,941 (GRCm39) missense probably damaging 1.00
IGL03286:Plekhm2 APN 4 141,361,658 (GRCm39) missense possibly damaging 0.95
R0008:Plekhm2 UTSW 4 141,369,704 (GRCm39) splice site probably benign
R0008:Plekhm2 UTSW 4 141,369,704 (GRCm39) splice site probably benign
R0639:Plekhm2 UTSW 4 141,369,381 (GRCm39) missense probably damaging 1.00
R0682:Plekhm2 UTSW 4 141,355,436 (GRCm39) missense probably damaging 0.97
R0968:Plekhm2 UTSW 4 141,357,243 (GRCm39) missense probably benign 0.01
R1109:Plekhm2 UTSW 4 141,355,295 (GRCm39) missense probably benign 0.31
R1475:Plekhm2 UTSW 4 141,355,165 (GRCm39) missense possibly damaging 0.75
R1802:Plekhm2 UTSW 4 141,361,658 (GRCm39) missense probably benign 0.03
R1813:Plekhm2 UTSW 4 141,369,750 (GRCm39) missense possibly damaging 0.93
R1844:Plekhm2 UTSW 4 141,359,685 (GRCm39) missense probably benign
R2261:Plekhm2 UTSW 4 141,370,043 (GRCm39) missense probably damaging 0.98
R3889:Plekhm2 UTSW 4 141,369,301 (GRCm39) splice site probably benign
R3922:Plekhm2 UTSW 4 141,356,843 (GRCm39) missense probably benign 0.01
R4324:Plekhm2 UTSW 4 141,359,168 (GRCm39) missense possibly damaging 0.86
R4758:Plekhm2 UTSW 4 141,369,316 (GRCm39) missense possibly damaging 0.91
R4814:Plekhm2 UTSW 4 141,355,150 (GRCm39) missense probably benign 0.00
R4983:Plekhm2 UTSW 4 141,361,687 (GRCm39) missense probably damaging 1.00
R5468:Plekhm2 UTSW 4 141,355,411 (GRCm39) missense probably damaging 1.00
R5691:Plekhm2 UTSW 4 141,355,600 (GRCm39) missense possibly damaging 0.96
R5877:Plekhm2 UTSW 4 141,367,004 (GRCm39) missense probably damaging 0.98
R6268:Plekhm2 UTSW 4 141,359,652 (GRCm39) nonsense probably null
R6371:Plekhm2 UTSW 4 141,356,843 (GRCm39) missense possibly damaging 0.94
R6489:Plekhm2 UTSW 4 141,359,344 (GRCm39) missense probably damaging 1.00
R7266:Plekhm2 UTSW 4 141,369,770 (GRCm39) missense possibly damaging 0.91
R7399:Plekhm2 UTSW 4 141,361,687 (GRCm39) missense probably damaging 1.00
R7573:Plekhm2 UTSW 4 141,358,658 (GRCm39) missense probably benign 0.02
R7742:Plekhm2 UTSW 4 141,355,150 (GRCm39) missense probably benign 0.00
R7864:Plekhm2 UTSW 4 141,355,357 (GRCm39) missense probably damaging 0.96
R7920:Plekhm2 UTSW 4 141,359,432 (GRCm39) missense probably damaging 1.00
R8417:Plekhm2 UTSW 4 141,355,136 (GRCm39) missense probably benign 0.04
R8462:Plekhm2 UTSW 4 141,367,130 (GRCm39) missense probably damaging 1.00
R8504:Plekhm2 UTSW 4 141,369,764 (GRCm39) missense probably damaging 1.00
R8851:Plekhm2 UTSW 4 141,358,639 (GRCm39) missense probably benign 0.04
R8855:Plekhm2 UTSW 4 141,361,658 (GRCm39) missense probably benign 0.03
R9051:Plekhm2 UTSW 4 141,359,732 (GRCm39) missense possibly damaging 0.50
R9080:Plekhm2 UTSW 4 141,359,039 (GRCm39) missense probably damaging 1.00
R9252:Plekhm2 UTSW 4 141,356,443 (GRCm39) missense probably damaging 1.00
R9298:Plekhm2 UTSW 4 141,356,829 (GRCm39) missense probably benign
R9383:Plekhm2 UTSW 4 141,359,612 (GRCm39) missense probably damaging 1.00
R9463:Plekhm2 UTSW 4 141,357,949 (GRCm39) missense probably benign 0.10
T0722:Plekhm2 UTSW 4 141,359,292 (GRCm39) small deletion probably benign
T0975:Plekhm2 UTSW 4 141,359,292 (GRCm39) small deletion probably benign
X0024:Plekhm2 UTSW 4 141,355,352 (GRCm39) missense probably damaging 1.00
Z1177:Plekhm2 UTSW 4 141,367,133 (GRCm39) missense possibly damaging 0.73
Z1177:Plekhm2 UTSW 4 141,356,396 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TCTGTTCAACTGGGAGGGAG -3'
(R):5'- AGCCTTGTTTGCTGCCTGAC -3'

Sequencing Primer
(F):5'- CAGGCTCAGTCATGCTCAGTTG -3'
(R):5'- AGGCTGCTATCCAACATCTC -3'
Posted On 2018-04-27