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)
|
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
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: D208G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081221 Gene: ENSMUSG00000028917 AA Change: D208G
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
|
Meta Mutation Damage Score |
0.0816 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |