Incidental Mutation 'IGL01392:Plekhm2'
ID |
79249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plekhm2
|
Ensembl Gene |
ENSMUSG00000028917 |
Gene Name |
pleckstrin homology domain containing, family M (with RUN domain) member 2 |
Synonyms |
2310034J19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01392
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141369737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 86
(V86A)
|
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: V86A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030751 Gene: ENSMUSG00000028917 AA Change: V86A
Domain | Start | End | E-Value | Type |
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: V86A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081221 Gene: ENSMUSG00000028917 AA Change: V86A
Domain | Start | End | E-Value | Type |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
Calr4 |
A |
G |
4: 109,111,071 (GRCm39) |
E272G |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
Eri3 |
T |
C |
4: 117,446,356 (GRCm39) |
|
probably null |
Het |
Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
Gm7168 |
G |
A |
17: 14,169,169 (GRCm39) |
D179N |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
Or5b95 |
T |
A |
19: 12,658,167 (GRCm39) |
Y232N |
probably benign |
Het |
Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
T |
A |
7: 43,240,554 (GRCm39) |
F714Y |
probably damaging |
Het |
|
Other mutations in Plekhm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2013-11-05 |