Incidental Mutation 'R6268:Plekhm2'
| ID |
507143 |
| 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 |
044439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 141359652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 392
(Q392*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030751]
[ENSMUST00000084203]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030751
AA Change: Q372*
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: Q372*
| 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 null
Transcript: ENSMUST00000084203
AA Change: Q392*
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: Q392*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,545,219 (GRCm39) |
I78T |
probably benign |
Het |
| Afg3l1 |
A |
T |
8: 124,219,665 (GRCm39) |
I398F |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,591,048 (GRCm39) |
H1244R |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,599,687 (GRCm39) |
K797N |
probably damaging |
Het |
| Anxa6 |
G |
T |
11: 54,877,903 (GRCm39) |
|
probably null |
Het |
| Aoc1l1 |
T |
A |
6: 48,954,616 (GRCm39) |
Y585N |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,493 (GRCm39) |
V310E |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,228,963 (GRCm39) |
I123V |
probably damaging |
Het |
| Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,874,771 (GRCm39) |
I542F |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,426,648 (GRCm39) |
Y1100* |
probably null |
Het |
| Coq9 |
A |
G |
8: 95,576,862 (GRCm39) |
E158G |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,365 (GRCm39) |
W303R |
possibly damaging |
Het |
| Cpa5 |
A |
G |
6: 30,615,172 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crygn |
A |
T |
5: 24,961,189 (GRCm39) |
V39E |
probably damaging |
Het |
| Csf1 |
G |
T |
3: 107,654,473 (GRCm39) |
S132R |
possibly damaging |
Het |
| Dapk1 |
G |
A |
13: 60,909,580 (GRCm39) |
V1398M |
possibly damaging |
Het |
| Degs2 |
C |
A |
12: 108,658,839 (GRCm39) |
V47L |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,027,724 (GRCm39) |
E1057* |
probably null |
Het |
| Dsg1b |
C |
A |
18: 20,521,220 (GRCm39) |
Q26K |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,762,305 (GRCm39) |
Y1098C |
probably damaging |
Het |
| Fam181a |
T |
C |
12: 103,282,803 (GRCm39) |
V236A |
possibly damaging |
Het |
| Fam78b |
C |
A |
1: 166,906,122 (GRCm39) |
P94T |
probably damaging |
Het |
| Fbxw25 |
T |
G |
9: 109,483,718 (GRCm39) |
T165P |
probably damaging |
Het |
| Flg |
C |
A |
3: 93,195,482 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
T |
3: 116,696,748 (GRCm39) |
V573F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,032 (GRCm39) |
T964A |
possibly damaging |
Het |
| Hoxd9 |
G |
T |
2: 74,528,433 (GRCm39) |
V12L |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,793,609 (GRCm39) |
|
probably null |
Het |
| Klhl3 |
G |
T |
13: 58,161,656 (GRCm39) |
R480S |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,406 (GRCm39) |
D369G |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,657,794 (GRCm39) |
N303K |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,050,132 (GRCm39) |
T465A |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,602,989 (GRCm39) |
V888A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,711,729 (GRCm39) |
T3164S |
probably benign |
Het |
| Mmp3 |
T |
G |
9: 7,447,622 (GRCm39) |
D202E |
possibly damaging |
Het |
| Mocs1 |
C |
A |
17: 49,742,183 (GRCm39) |
T104K |
probably damaging |
Het |
| Mrpl42 |
A |
T |
10: 95,332,569 (GRCm39) |
|
probably null |
Het |
| Mtch2 |
T |
C |
2: 90,693,992 (GRCm39) |
C279R |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,589,141 (GRCm39) |
D2836V |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,226,741 (GRCm39) |
E370G |
probably benign |
Het |
| Naa11 |
A |
G |
5: 97,540,069 (GRCm39) |
Y30H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,351 (GRCm39) |
T141A |
probably damaging |
Het |
| Or5h26 |
A |
C |
16: 58,987,656 (GRCm39) |
|
probably null |
Het |
| Or8c11 |
T |
C |
9: 38,289,384 (GRCm39) |
I69T |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,671 (GRCm39) |
Y94* |
probably null |
Het |
| Pcdha12 |
G |
A |
18: 37,155,477 (GRCm39) |
C732Y |
possibly damaging |
Het |
| Prr22 |
G |
A |
17: 57,078,587 (GRCm39) |
V247M |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,540,073 (GRCm39) |
L716Q |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,493 (GRCm39) |
V246I |
probably damaging |
Het |
| Rhbdd2 |
C |
T |
5: 135,672,114 (GRCm39) |
T323I |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Scgb2b20 |
A |
T |
7: 33,063,973 (GRCm39) |
I99K |
possibly damaging |
Het |
| Scyl3 |
C |
T |
1: 163,773,786 (GRCm39) |
R324* |
probably null |
Het |
| Slc23a1 |
T |
C |
18: 35,752,624 (GRCm39) |
Y551C |
probably damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,341,264 (GRCm39) |
S358R |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,778,605 (GRCm39) |
N1007K |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,431,027 (GRCm39) |
K428* |
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,128,727 (GRCm39) |
I584N |
probably damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,344 (GRCm39) |
|
probably benign |
Het |
| Trgv2 |
G |
A |
13: 19,521,001 (GRCm39) |
T31I |
probably benign |
Het |
| Ttll3 |
C |
T |
6: 113,369,524 (GRCm39) |
R23C |
probably benign |
Het |
| Ugt2a3 |
A |
C |
5: 87,477,472 (GRCm39) |
L309R |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,550,807 (GRCm39) |
M2015T |
probably benign |
Het |
| Vmn2r14 |
A |
C |
5: 109,369,283 (GRCm39) |
S97A |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,858,731 (GRCm39) |
T2727K |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,846,067 (GRCm39) |
I40K |
probably damaging |
Het |
| Zc3h11a |
A |
G |
1: 133,552,295 (GRCm39) |
V604A |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,378,612 (GRCm39) |
R259H |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,690,705 (GRCm39) |
V185A |
possibly 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 |
|
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'- CGCAAAATGGTGGTTTCTCC -3'
(R):5'- GTTGCAGGGTCACCAAGAAG -3'
Sequencing Primer
(F):5'- TGGTTTCTCCGGGGCCTC -3'
(R):5'- ACGAGGATGCAAGCCCACTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation