Incidental Mutation 'IGL01482:Plekhm2'
ID |
88664 |
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 # |
IGL01482
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141357340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 711
(S711P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030751]
[ENSMUST00000084203]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030751
AA Change: S691P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000030751 Gene: ENSMUSG00000028917 AA Change: S691P
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 |
probably damaging
Transcript: ENSMUST00000084203
AA Change: S711P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081221 Gene: ENSMUSG00000028917 AA Change: S711P
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: 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
T |
1: 120,099,201 (GRCm39) |
D98V |
probably benign |
Het |
Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
Dennd2a |
T |
C |
6: 39,457,243 (GRCm39) |
H733R |
probably damaging |
Het |
Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2l |
A |
T |
16: 96,239,948 (GRCm39) |
L17Q |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,855,346 (GRCm39) |
V340A |
probably benign |
Het |
Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,857,639 (GRCm39) |
N66S |
probably benign |
Het |
Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
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 |
IGL01392:Plekhm2
|
APN |
4 |
141,369,737 (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 |
2013-11-18 |