Incidental Mutation 'R7742:Plekhm2'
ID 596598
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 045798-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7742 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141353043-141391457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141355150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 959 (L959P)
Ref Sequence ENSEMBL: ENSMUSP00000081221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030751] [ENSMUST00000038661] [ENSMUST00000084203]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030751
AA Change: L939P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: L939P

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 probably benign
Transcript: ENSMUST00000084203
AA Change: L959P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: L959P

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 0.0834 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,714 (GRCm39) K417R possibly damaging Het
Adgrl2 A T 3: 148,542,064 (GRCm39) I886N probably damaging Het
Angptl2 A G 2: 33,133,928 (GRCm39) T417A probably damaging Het
Ankrd33b T C 15: 31,367,538 (GRCm39) M1V probably null Het
Col3a1 A G 1: 45,384,161 (GRCm39) H1155R unknown Het
Csad A G 15: 102,095,599 (GRCm39) S153P probably damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmtf1 C T 5: 9,172,457 (GRCm39) probably benign Het
Dna2 T C 10: 62,809,073 (GRCm39) I1055T probably benign Het
Dnai4 C T 4: 102,947,630 (GRCm39) M215I probably benign Het
Dync2h1 T C 9: 7,076,232 (GRCm39) D2975G probably benign Het
Eif1ad7 A T 12: 88,238,476 (GRCm39) Y95N probably damaging Het
F5 G T 1: 164,035,453 (GRCm39) V1876F possibly damaging Het
Fam81b T A 13: 76,399,809 (GRCm39) I150F probably damaging Het
Fbl T A 7: 27,877,684 (GRCm39) V252E probably damaging Het
Fbln1 A G 15: 85,124,917 (GRCm39) D475G probably damaging Het
Fshr T A 17: 89,293,590 (GRCm39) I363F probably benign Het
Gapvd1 A G 2: 34,568,635 (GRCm39) L1328P probably damaging Het
Hcfc2 T A 10: 82,547,659 (GRCm39) probably null Het
Ifi209 C A 1: 173,470,198 (GRCm39) T262K probably damaging Het
Kif2b T A 11: 91,467,411 (GRCm39) I291F possibly damaging Het
Lrp1b T A 2: 40,712,641 (GRCm39) D3231V Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nudcd1 T C 15: 44,268,754 (GRCm39) K209E probably benign Het
Nup98 C T 7: 101,802,464 (GRCm39) probably null Het
Odad3 T C 9: 21,904,193 (GRCm39) D361G possibly damaging Het
Or2ag2 T C 7: 106,485,829 (GRCm39) Q65R probably damaging Het
Or2j6 T A 7: 139,980,234 (GRCm39) I242F probably benign Het
Pign T C 1: 105,480,122 (GRCm39) I851V probably benign Het
Pkd1l3 T A 8: 110,341,204 (GRCm39) L19Q unknown Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Prkcg T C 7: 3,378,459 (GRCm39) I627T possibly damaging Het
Prl7b1 A T 13: 27,791,031 (GRCm39) M18K probably benign Het
Ptpn3 T A 4: 57,265,092 (GRCm39) probably null Het
Rp1 A T 1: 4,240,457 (GRCm39) F899I unknown Het
Sis T A 3: 72,832,431 (GRCm39) Y1026F probably benign Het
Slc4a10 T G 2: 62,127,194 (GRCm39) V879G probably damaging Het
Specc1l T C 10: 75,082,251 (GRCm39) I549T probably benign Het
Spmip11 T A 15: 98,483,250 (GRCm39) V60E probably damaging Het
Sprr2a3 G A 3: 92,196,066 (GRCm39) V58M unknown Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Syne2 C T 12: 76,106,209 (GRCm39) H785Y probably benign Het
Tat T A 8: 110,718,242 (GRCm39) N42K probably benign Het
Tmem184a C T 5: 139,792,744 (GRCm39) A271T probably benign Het
Tmprss11d T C 5: 86,451,493 (GRCm39) I411V probably damaging Het
Ttn T C 2: 76,733,872 (GRCm39) I4468V unknown Het
Vcam1 T C 3: 115,909,734 (GRCm39) N531S possibly damaging Het
Vmn1r257 C T 7: 22,391,343 (GRCm39) V134I probably benign Het
Xcl1 T C 1: 164,763,041 (GRCm39) T7A unknown Het
Zc3h11a A G 1: 133,565,173 (GRCm39) V242A probably benign Het
Zc3h7a A T 16: 10,971,025 (GRCm39) Y335N probably benign Het
Zp2 T C 7: 119,731,731 (GRCm39) I675V unknown 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
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
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'- ACACATTGACAATGGGGCCC -3'
(R):5'- GATTGCCAAACCAGCTTCTTTC -3'

Sequencing Primer
(F):5'- ATGGGGCCCAAAGTTTCTGACTATC -3'
(R):5'- TTTCGCTCCCTGGGCACAG -3'
Posted On 2019-11-26