Incidental Mutation 'R8855:Plekhm2'
| ID |
675230 |
| 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 |
068736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141361658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 262
(S262T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030751
(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: S262T
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: S262T
| 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: ENSMUST00000084203
AA Change: S282T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: S282T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,914,511 (GRCm39) |
T38I |
probably benign |
Het |
| Ace |
T |
A |
11: 105,861,424 (GRCm39) |
L191* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,614,341 (GRCm39) |
H451Y |
probably damaging |
Het |
| Amotl1 |
C |
A |
9: 14,466,869 (GRCm39) |
|
probably null |
Het |
| Angptl6 |
T |
A |
9: 20,786,940 (GRCm39) |
Y261F |
probably damaging |
Het |
| Arhgap1 |
G |
T |
2: 91,499,744 (GRCm39) |
S293I |
probably benign |
Het |
| Atg9a |
A |
C |
1: 75,161,867 (GRCm39) |
F560V |
probably damaging |
Het |
| B4galnt4 |
G |
A |
7: 140,648,488 (GRCm39) |
G668D |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,935,901 (GRCm39) |
N230K |
probably benign |
Het |
| Ccne1 |
A |
C |
7: 37,800,046 (GRCm39) |
H179Q |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,218,887 (GRCm39) |
D623E |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,385,430 (GRCm39) |
K2283N |
probably benign |
Het |
| Clec16a |
A |
T |
16: 10,462,731 (GRCm39) |
D683V |
probably damaging |
Het |
| Clvs2 |
T |
C |
10: 33,404,400 (GRCm39) |
D272G |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,959,494 (GRCm39) |
V380A |
probably damaging |
Het |
| Col20a1 |
C |
A |
2: 180,655,684 (GRCm39) |
P42T |
|
Het |
| Ddx47 |
A |
G |
6: 135,000,356 (GRCm39) |
K451E |
probably benign |
Het |
| Dennd4a |
G |
A |
9: 64,819,672 (GRCm39) |
G1761D |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 118,156,107 (GRCm39) |
H181L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,602,333 (GRCm39) |
C2074R |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,793 (GRCm39) |
Q574H |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,879,191 (GRCm39) |
N50S |
possibly damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,709 (GRCm39) |
K199R |
probably benign |
Het |
| Fetub |
A |
T |
16: 22,758,321 (GRCm39) |
E368V |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,507,682 (GRCm39) |
D1209E |
probably benign |
Het |
| Flt1 |
A |
T |
5: 147,618,460 (GRCm39) |
N260K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,917,465 (GRCm39) |
H3495R |
|
Het |
| Fsip2 |
A |
G |
2: 82,810,521 (GRCm39) |
Q2280R |
probably benign |
Het |
| Gja10 |
A |
T |
4: 32,601,573 (GRCm39) |
C270* |
probably null |
Het |
| Gpld1 |
A |
G |
13: 25,170,890 (GRCm39) |
T794A |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,900 (GRCm39) |
Y157C |
probably damaging |
Het |
| Gsta2 |
T |
C |
9: 78,244,880 (GRCm39) |
K78R |
probably damaging |
Het |
| Gtf3a |
A |
G |
5: 146,885,721 (GRCm39) |
D44G |
probably benign |
Het |
| Hap1 |
C |
A |
11: 100,246,864 (GRCm39) |
G14W |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,387 (GRCm39) |
I623N |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,702 (GRCm39) |
S792P |
possibly damaging |
Het |
| Klra5 |
A |
T |
6: 129,880,533 (GRCm39) |
W212R |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,754,237 (GRCm39) |
L1622Q |
unknown |
Het |
| Lipi |
T |
A |
16: 75,355,481 (GRCm39) |
D343V |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,445,785 (GRCm39) |
N1009K |
probably benign |
Het |
| Lrrc39 |
T |
A |
3: 116,363,790 (GRCm39) |
I121N |
probably damaging |
Het |
| Mamstr |
A |
T |
7: 45,294,403 (GRCm39) |
D419V |
probably benign |
Het |
| Map2k7 |
C |
T |
8: 4,293,594 (GRCm39) |
T119I |
probably damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,896,169 (GRCm39) |
D671V |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,642 (GRCm39) |
L104Q |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,102,247 (GRCm39) |
L846H |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,025,840 (GRCm39) |
I133N |
possibly damaging |
Het |
| Ndufs5 |
A |
G |
4: 123,609,655 (GRCm39) |
|
probably null |
Het |
| Numa1 |
G |
C |
7: 101,639,835 (GRCm39) |
D62H |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,610,196 (GRCm39) |
Y105N |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,168 (GRCm39) |
I80N |
probably damaging |
Het |
| Or52p2 |
G |
T |
7: 102,237,945 (GRCm39) |
Q2K |
probably benign |
Het |
| Or8b12c |
C |
G |
9: 37,715,709 (GRCm39) |
F167L |
probably damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,529 (GRCm39) |
K208R |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,051 (GRCm39) |
V1246A |
probably damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,069,526 (GRCm39) |
T144A |
probably benign |
Het |
| Pramel14 |
A |
T |
4: 143,720,905 (GRCm39) |
L12Q |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,334,235 (GRCm39) |
D230G |
probably benign |
Het |
| Rbm15b |
C |
T |
9: 106,763,595 (GRCm39) |
R191Q |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,329,852 (GRCm39) |
T721I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,309 (GRCm39) |
I35N |
probably damaging |
Het |
| Sgk1 |
T |
G |
10: 21,871,726 (GRCm39) |
S181A |
probably benign |
Het |
| Slc25a10 |
T |
C |
11: 120,385,795 (GRCm39) |
S74P |
probably damaging |
Het |
| Slc30a3 |
C |
A |
5: 31,245,325 (GRCm39) |
V332F |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,806,122 (GRCm39) |
S240P |
unknown |
Het |
| Snapc4 |
G |
A |
2: 26,264,545 (GRCm39) |
R265W |
probably damaging |
Het |
| Taar1 |
C |
T |
10: 23,796,976 (GRCm39) |
R225C |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,231 (GRCm39) |
S271P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,141,289 (GRCm39) |
V127A |
unknown |
Het |
| Trim66 |
G |
T |
7: 109,081,188 (GRCm39) |
H244N |
probably damaging |
Het |
| Tshz2 |
T |
A |
2: 169,728,425 (GRCm39) |
L1007H |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,831,003 (GRCm39) |
S288C |
probably benign |
Het |
| Twnk |
C |
T |
19: 45,000,272 (GRCm39) |
Q663* |
probably null |
Het |
| Ucn |
T |
A |
5: 31,295,857 (GRCm39) |
Q3L |
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,395,758 (GRCm39) |
R492H |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,620 (GRCm39) |
S1150P |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfand1 |
T |
C |
3: 10,405,811 (GRCm39) |
D264G |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,848 (GRCm39) |
E701G |
probably benign |
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 |
|
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'- AGAGACATCTCCTGCCCTTG -3'
(R):5'- CCTGAGATAAGGCATTCTTTGGG -3'
Sequencing Primer
(F):5'- CCTTGGGGAAGACTGTCTGC -3'
(R):5'- AGATAAGGCATTCTTTGGGGTCCAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation