Incidental Mutation 'R7399:Plekhm2'
| ID |
574014 |
| 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 |
045481-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141361687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 272
(F272S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081221
(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: F252S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: F252S
| 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: F272S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: F272S
| 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 |
0.3022 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,151,505 (GRCm39) |
V801G |
possibly damaging |
Het |
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,741,915 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
T |
A |
1: 10,251,122 (GRCm39) |
T888S |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,302,117 (GRCm39) |
P10L |
possibly damaging |
Het |
| Bcap29 |
A |
G |
12: 31,680,881 (GRCm39) |
I35T |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cby2 |
A |
G |
14: 75,830,077 (GRCm39) |
S39P |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,036,574 (GRCm39) |
D458G |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,272,101 (GRCm39) |
K1104R |
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,137,803 (GRCm39) |
N729S |
probably damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,968,788 (GRCm39) |
M51K |
possibly damaging |
Het |
| Dcdc2b |
A |
G |
4: 129,503,422 (GRCm39) |
L270P |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 148,937,981 (GRCm39) |
H639N |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 117,991,212 (GRCm39) |
T2385P |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,089,520 (GRCm39) |
E1182G |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,223,815 (GRCm39) |
V81A |
probably damaging |
Het |
| Dtx1 |
T |
A |
5: 120,820,458 (GRCm39) |
M494L |
possibly damaging |
Het |
| Foxj1 |
A |
T |
11: 116,223,080 (GRCm39) |
L241Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,893,892 (GRCm39) |
T201S |
probably benign |
Het |
| Jup |
G |
T |
11: 100,269,177 (GRCm39) |
T412K |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,527,057 (GRCm39) |
S954F |
probably damaging |
Het |
| Klhdc7b |
A |
C |
15: 89,272,847 (GRCm39) |
K585T |
possibly damaging |
Het |
| Klk7 |
T |
A |
7: 43,461,424 (GRCm39) |
S14T |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
| Ldhb |
A |
G |
6: 142,441,399 (GRCm39) |
C164R |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,614,901 (GRCm39) |
D239N |
|
Het |
| Mgam |
T |
A |
6: 40,643,788 (GRCm39) |
V572E |
probably damaging |
Het |
| Mrgprb2 |
G |
T |
7: 48,201,890 (GRCm39) |
N278K |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,819,130 (GRCm39) |
Y206H |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,169,573 (GRCm39) |
S467G |
unknown |
Het |
| Mysm1 |
T |
A |
4: 94,849,964 (GRCm39) |
I447L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,688,795 (GRCm39) |
E494G |
possibly damaging |
Het |
| Nol10 |
T |
G |
12: 17,452,174 (GRCm39) |
V376G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,191,611 (GRCm39) |
I1032N |
probably damaging |
Het |
| Oog2 |
A |
G |
4: 143,921,851 (GRCm39) |
K254E |
probably benign |
Het |
| Or10ac1 |
A |
G |
6: 42,515,662 (GRCm39) |
F98S |
possibly damaging |
Het |
| Or52z12 |
A |
T |
7: 103,233,588 (GRCm39) |
I120L |
possibly damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,811 (GRCm39) |
N286S |
probably damaging |
Het |
| Or5d41 |
A |
T |
2: 88,055,366 (GRCm39) |
Y3* |
probably null |
Het |
| Or5g25 |
T |
A |
2: 85,477,768 (GRCm39) |
D299V |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,640 (GRCm39) |
D19G |
probably benign |
Het |
| Or6b1 |
T |
G |
6: 42,815,680 (GRCm39) |
Y288* |
probably null |
Het |
| Or6c6 |
A |
T |
10: 129,186,426 (GRCm39) |
|
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,501 (GRCm39) |
T213I |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,056,649 (GRCm39) |
D694E |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,746,547 (GRCm39) |
Y1210N |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,276,697 (GRCm39) |
M293V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,940,235 (GRCm39) |
I451V |
probably benign |
Het |
| Pramel32 |
C |
A |
4: 88,546,202 (GRCm39) |
R380L |
probably benign |
Het |
| Ptgdr |
A |
T |
14: 45,095,689 (GRCm39) |
|
probably null |
Het |
| Ptprf |
C |
T |
4: 118,083,720 (GRCm39) |
V788I |
probably benign |
Het |
| Ralbp1 |
C |
T |
17: 66,161,143 (GRCm39) |
V467I |
probably benign |
Het |
| Ralgds |
A |
C |
2: 28,433,667 (GRCm39) |
Q229P |
possibly damaging |
Het |
| Recql |
T |
C |
6: 142,320,610 (GRCm39) |
D146G |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,256,365 (GRCm39) |
N493S |
probably damaging |
Het |
| Rfxank |
C |
T |
8: 70,587,936 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,596 (GRCm39) |
M1704K |
probably damaging |
Het |
| Slc7a7 |
G |
T |
14: 54,611,725 (GRCm39) |
A316E |
possibly damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,036,794 (GRCm39) |
C538S |
probably benign |
Het |
| Stard6 |
T |
C |
18: 70,631,718 (GRCm39) |
|
probably null |
Het |
| Strip2 |
T |
A |
6: 29,927,612 (GRCm39) |
M219K |
possibly damaging |
Het |
| Tcam1 |
T |
C |
11: 106,174,911 (GRCm39) |
V122A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,760,516 (GRCm39) |
V236A |
possibly damaging |
Het |
| Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 63,938,894 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,495 (GRCm39) |
T25A |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,765 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
C |
14: 32,790,863 (GRCm39) |
V2188G |
|
Het |
| Zfp623 |
T |
C |
15: 75,819,247 (GRCm39) |
S68P |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,107,593 (GRCm39) |
C497S |
probably damaging |
Het |
| Zkscan2 |
C |
T |
7: 123,079,327 (GRCm39) |
E877K |
probably damaging |
Het |
| Zp3r |
C |
A |
1: 130,504,790 (GRCm39) |
V536L |
probably 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 |
|
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 |
|
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'- TAGTAAGTCCACAGAGGCTCG -3'
(R):5'- TTCAACTAGGGCCACTGTGG -3'
Sequencing Primer
(F):5'- ACAGAGGCTCGTCCACCTTC -3'
(R):5'- CTCCCCTGAGATAAGGCATTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation