Incidental Mutation 'R9080:Plekhm2'
ID |
689943 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9080 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141359039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 576
(H576R)
|
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: H576R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030751 Gene: ENSMUSG00000028917 AA Change: H576R
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: H596R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081221 Gene: ENSMUSG00000028917 AA Change: H596R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
C |
6: 52,155,973 (GRCm39) |
I13T |
unknown |
Het |
Adad1 |
G |
T |
3: 37,119,398 (GRCm39) |
V160L |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,449,427 (GRCm39) |
M279K |
probably damaging |
Het |
Adgra2 |
T |
C |
8: 27,604,529 (GRCm39) |
S535P |
probably benign |
Het |
Akr1c13 |
C |
T |
13: 4,241,172 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,464,426 (GRCm39) |
I1690T |
possibly damaging |
Het |
Ccdc138 |
A |
G |
10: 58,397,884 (GRCm39) |
M575V |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,383,183 (GRCm39) |
N330S |
unknown |
Het |
Col12a1 |
T |
C |
9: 79,517,133 (GRCm39) |
D2849G |
probably benign |
Het |
Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
Cspp1 |
G |
A |
1: 10,183,919 (GRCm39) |
S848N |
probably benign |
Het |
Cxcr5 |
A |
G |
9: 44,424,563 (GRCm39) |
S365P |
probably damaging |
Het |
Dclre1c |
A |
T |
2: 3,458,589 (GRCm39) |
M389L |
probably benign |
Het |
Dlc1 |
T |
C |
8: 37,052,006 (GRCm39) |
D124G |
probably benign |
Het |
Dtx3 |
A |
T |
10: 127,027,137 (GRCm39) |
S346T |
possibly damaging |
Het |
Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,212 (GRCm39) |
A259V |
probably benign |
Het |
Gm11232 |
A |
T |
4: 71,676,070 (GRCm39) |
M25K |
probably benign |
Het |
Gm4950 |
A |
G |
18: 51,998,922 (GRCm39) |
V11A |
possibly damaging |
Het |
Gsap |
C |
T |
5: 21,399,410 (GRCm39) |
T37I |
possibly damaging |
Het |
Igfbp2 |
T |
A |
1: 72,891,157 (GRCm39) |
C252S |
probably damaging |
Het |
Ing2 |
T |
C |
8: 48,121,808 (GRCm39) |
T247A |
possibly damaging |
Het |
Ints1 |
C |
T |
5: 139,739,300 (GRCm39) |
V2028M |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,466,874 (GRCm39) |
F400L |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,673,633 (GRCm39) |
Y889C |
probably benign |
Het |
Kcnh3 |
A |
G |
15: 99,139,667 (GRCm39) |
E882G |
probably damaging |
Het |
Limch1 |
T |
A |
5: 67,174,992 (GRCm39) |
C515S |
probably benign |
Het |
Lrrc74a |
G |
T |
12: 86,795,908 (GRCm39) |
V294F |
possibly damaging |
Het |
Megf8 |
A |
G |
7: 25,041,131 (GRCm39) |
E1120G |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,912,516 (GRCm39) |
Y1090* |
probably null |
Het |
Nckap1 |
A |
G |
2: 80,350,726 (GRCm39) |
Y794H |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,623,754 (GRCm39) |
M25V |
|
Het |
Ogfod2 |
A |
G |
5: 124,253,007 (GRCm39) |
E339G |
probably damaging |
Het |
Olah |
T |
A |
2: 3,349,389 (GRCm39) |
E64V |
probably damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,830 (GRCm39) |
V197D |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,548,563 (GRCm39) |
L81H |
probably damaging |
Het |
Pdcd6ip |
T |
A |
9: 113,520,624 (GRCm39) |
K120M |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,655,476 (GRCm39) |
I134V |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,637,494 (GRCm39) |
H127Q |
probably damaging |
Het |
Rmnd5b |
C |
T |
11: 51,515,055 (GRCm39) |
|
probably null |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Sec16b |
C |
A |
1: 157,393,300 (GRCm39) |
Q995K |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,107 (GRCm39) |
S260R |
probably benign |
Het |
Slc47a1 |
C |
T |
11: 61,264,219 (GRCm39) |
G67S |
possibly damaging |
Het |
Slco6d1 |
T |
C |
1: 98,348,983 (GRCm39) |
V18A |
probably benign |
Het |
Tfcp2 |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
15: 100,395,968 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
G |
17: 3,464,519 (GRCm39) |
C83G |
probably benign |
Het |
Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,253,843 (GRCm39) |
G743R |
probably damaging |
Het |
Tnks |
CCCGCCGCCGCCGCCGCCGCCG |
CCCGCCGCCGCCGCCGCCG |
8: 35,432,466 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,536,843 (GRCm39) |
T34994I |
probably benign |
Het |
Ube2q2l |
T |
A |
6: 136,377,720 (GRCm39) |
D370V |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,017 (GRCm39) |
E536D |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,612,308 (GRCm39) |
E836G |
probably damaging |
Het |
Vmn1r41 |
C |
T |
6: 89,724,138 (GRCm39) |
T63M |
unknown |
Het |
Vmn2r72 |
A |
C |
7: 85,387,464 (GRCm39) |
I700S |
probably damaging |
Het |
Xrcc4 |
T |
C |
13: 90,149,097 (GRCm39) |
N141S |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,844,155 (GRCm39) |
V6A |
unknown |
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 |
|
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 |
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'- AGCAAGTGGTTGTTGTCTACTC -3'
(R):5'- AGTACTGTTGCACCAGGTGG -3'
Sequencing Primer
(F):5'- CTACTCTGTGTCAGGAACAAGGGTC -3'
(R):5'- CGGCTGCTCTCCAAGAAGAAG -3'
|
Posted On |
2021-11-19 |