Incidental Mutation 'R5877:Plekhm2'
| ID |
455589 |
| 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 |
044083-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5877 (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 141367004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 212
(I212S)
|
| 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: I212S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: I212S
| 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: I212S
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: I212S
| 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 |
0.0856 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,453,822 (GRCm39) |
H213L |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
| Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
| Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,796,004 (GRCm39) |
V957I |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
| Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
| Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
| Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
| Fbxw10 |
A |
T |
11: 62,748,542 (GRCm39) |
N390Y |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
| Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
| Hif3a |
G |
T |
7: 16,785,071 (GRCm39) |
A181E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
| Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
| Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
| P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
| Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
| Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
| Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
| Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
| Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
| Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
| Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,113 (GRCm39) |
M583K |
possibly damaging |
Het |
| Usp33 |
G |
A |
3: 152,085,233 (GRCm39) |
C623Y |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
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 |
|
R5691:Plekhm2
|
UTSW |
4 |
141,355,600 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- AGCTCTGTTCAACTGGGAGG -3'
(R):5'- AGCCTTGTTTGCTGCCTGAC -3'
Sequencing Primer
(F):5'- CAGGCTCAGTCATGCTCAGTTG -3'
(R):5'- AGGCTGCTATCCAACATCTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation