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)
|
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
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 benign
Transcript: ENSMUST00000038661
|
SMART Domains |
Protein: ENSMUSP00000039188 Gene: ENSMUSG00000040740
Domain | Start | End | E-Value | Type |
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
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
|
Meta Mutation Damage Score |
0.4803 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |