Incidental Mutation 'R5691:Plekhm2'
ID 443676
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 043324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5691 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 141353043-141391457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 141355600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 867 (S867A)
Ref Sequence ENSEMBL: ENSMUSP00000030751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000038661] [ENSMUST00000084203]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030751
AA Change: S867A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: S867A

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: ENSMUST00000038661
SMART Domains Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740

DomainStartEndE-ValueType
Pfam:Mito_carr 16 111 2.2e-14 PFAM
Pfam:Mito_carr 113 213 7.6e-18 PFAM
Pfam:Mito_carr 217 314 9.3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084203
AA Change: S887A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: S887A

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
Meta Mutation Damage Score 0.4803 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (60/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410022M11Rik A G 14: 57,049,830 (GRCm39) probably benign Het
Abcb5 A T 12: 118,890,970 (GRCm39) M509K probably damaging Het
Ap4m1 A G 5: 138,170,653 (GRCm39) Y34C probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Bcl10 C T 3: 145,638,904 (GRCm39) T182I probably benign Het
Cdc123 T A 2: 5,827,986 (GRCm39) N87I probably benign Het
Cfap46 T C 7: 139,186,616 (GRCm39) E2431G possibly damaging Het
Dcc T C 18: 71,708,154 (GRCm39) T521A probably damaging Het
Defb46 T A 8: 19,292,149 (GRCm39) I55K probably benign Het
Dlgap4 A G 2: 156,546,390 (GRCm39) T353A probably benign Het
Eqtn C A 4: 94,811,965 (GRCm39) probably null Het
Ermn A T 2: 57,937,776 (GRCm39) M279K probably damaging Het
Fan1 C A 7: 64,004,118 (GRCm39) probably null Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Hectd4 A G 5: 121,486,878 (GRCm39) D3291G possibly damaging Het
Hid1 A G 11: 115,239,645 (GRCm39) W762R probably damaging Het
Idi2l A T 13: 8,992,693 (GRCm39) Y91* probably null Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Inpp4b T A 8: 82,617,323 (GRCm39) probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Jph1 T G 1: 17,074,587 (GRCm39) Q477P probably benign Het
Kdm4c A T 4: 74,252,965 (GRCm39) I511L probably benign Het
Lrp2 T C 2: 69,332,897 (GRCm39) D1540G probably damaging Het
Lrrc69 T A 4: 14,769,648 (GRCm39) I168F probably damaging Het
Mgat4e A T 1: 134,468,729 (GRCm39) probably benign Het
Mroh7 C A 4: 106,559,815 (GRCm39) G704V probably damaging Het
Nadsyn1 C T 7: 143,366,316 (GRCm39) probably null Het
Ncoa2 A T 1: 13,250,774 (GRCm39) C303S probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Nrcam T C 12: 44,611,039 (GRCm39) Y554H probably damaging Het
Nubpl G A 12: 52,152,059 (GRCm39) probably benign Het
Oasl2 C A 5: 115,037,828 (GRCm39) T75K possibly damaging Het
Or8h9 A T 2: 86,789,616 (GRCm39) F62Y probably damaging Het
P3h3 C T 6: 124,832,116 (GRCm39) G257R probably damaging Het
Parp14 A G 16: 35,683,909 (GRCm39) V139A probably benign Het
Pgam5 G A 5: 110,414,959 (GRCm39) P85S probably damaging Het
Phpt1 T C 2: 25,463,707 (GRCm39) Y96C probably damaging Het
Pramel26 A T 4: 143,538,579 (GRCm39) W131R probably benign Het
Prss21 A G 17: 24,087,759 (GRCm39) probably null Het
Rabgap1l A T 1: 160,563,254 (GRCm39) Y108N probably damaging Het
Riox1 C T 12: 83,998,466 (GRCm39) T334I possibly damaging Het
Rps3a2 G T 14: 88,360,483 (GRCm39) noncoding transcript Het
Selenot C T 3: 58,493,447 (GRCm39) A108V probably benign Het
Setd3 A T 12: 108,126,544 (GRCm39) M98K probably benign Het
Slc22a27 T C 19: 7,904,035 (GRCm39) H34R possibly damaging Het
Slco1a8 A T 6: 141,940,581 (GRCm39) Y93* probably null Het
Sp3 A G 2: 72,801,803 (GRCm39) L70S probably damaging Het
Syne2 TCCAGGTAGGGCACACC TCC 12: 76,074,630 (GRCm39) probably null Het
Tcl1b4 C A 12: 105,168,806 (GRCm39) D23E possibly damaging Het
Tespa1 T A 10: 130,190,638 (GRCm39) probably null Het
Tmc7 T C 7: 118,141,116 (GRCm39) I672V probably benign Het
Trps1 T A 15: 50,690,700 (GRCm39) Q14L probably benign Het
Vmn2r73 A G 7: 85,507,299 (GRCm39) V671A probably damaging Het
Zfp106 G A 2: 120,354,952 (GRCm39) S1273F probably damaging Het
Zfp90 C A 8: 107,151,710 (GRCm39) Y474* probably null 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
R5877:Plekhm2 UTSW 4 141,367,004 (GRCm39) missense probably damaging 0.98
R6268:Plekhm2 UTSW 4 141,359,652 (GRCm39) nonsense probably null
R6367:Plekhm2 UTSW 4 141,367,016 (GRCm39) missense probably damaging 0.97
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'- GTATGACCTGGACATTGGCAG -3'
(R):5'- TGGGAGATAGGCGTATGCTAC -3'

Sequencing Primer
(F):5'- CCTGGACATTGGCAGAAGGTG -3'
(R):5'- TGTGCAAACGTCCCTAGAG -3'
Posted On 2016-11-09