Incidental Mutation 'R5468:Plekhm2'
| ID |
433321 |
| 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 |
043029-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5468 (G1)
|
| Quality Score |
166 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 141355411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 879
(P879H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030751]
[ENSMUST00000038661]
[ENSMUST00000084203]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030751
AA Change: P879H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: P879H
| 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: ENSMUST00000038661
|
| SMART Domains |
Protein: ENSMUSP00000039188
Gene: ENSMUSG00000040740
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
16 |
111 |
2.2e-14 |
PFAM |
|
Pfam:Mito_carr
|
113 |
213 |
7.6e-18 |
PFAM |
|
Pfam:Mito_carr
|
217 |
314 |
9.3e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084203
AA Change: P899H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: P899H
| 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: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
C |
T |
7: 44,009,659 (GRCm39) |
R181Q |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,244,062 (GRCm39) |
L1975Q |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,036,443 (GRCm39) |
I180N |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,577,202 (GRCm39) |
D221G |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,080,178 (GRCm39) |
T244A |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,696 (GRCm39) |
I43N |
probably damaging |
Het |
| Anxa1 |
A |
T |
19: 20,355,847 (GRCm39) |
Y207N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,510 (GRCm39) |
L662P |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,788,667 (GRCm39) |
I593K |
probably damaging |
Het |
| Arsj |
T |
C |
3: 126,232,037 (GRCm39) |
V261A |
possibly damaging |
Het |
| Atp7b |
A |
T |
8: 22,549,986 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
C |
T |
16: 97,669,791 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,384,568 (GRCm39) |
S2571T |
probably damaging |
Het |
| Cep162 |
A |
C |
9: 87,109,290 (GRCm39) |
L438V |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,510,498 (GRCm39) |
N361I |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,743,633 (GRCm39) |
I548T |
probably damaging |
Het |
| Cracd |
A |
T |
5: 76,988,610 (GRCm39) |
|
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,816,594 (GRCm39) |
N382S |
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,907,557 (GRCm39) |
N4306K |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,937 (GRCm39) |
M281L |
probably benign |
Het |
| Fam186b |
A |
G |
15: 99,176,751 (GRCm39) |
I713T |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,053 (GRCm39) |
Y1068F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,247 (GRCm39) |
I231V |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,272,735 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Gm10999 |
G |
A |
8: 129,858,130 (GRCm39) |
P5S |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Impg1 |
T |
C |
9: 80,347,318 (GRCm39) |
I9V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,678 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
G |
1: 153,109,310 (GRCm39) |
S1161P |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,086,954 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
G |
T |
3: 158,024,073 (GRCm39) |
N107K |
probably damaging |
Het |
| Lypd8 |
T |
C |
11: 58,277,586 (GRCm39) |
S123P |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,729 (GRCm39) |
D1084G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,964,519 (GRCm39) |
S1000P |
probably benign |
Het |
| Ms4a7 |
C |
T |
19: 11,299,778 (GRCm39) |
C71Y |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,615 (GRCm39) |
S34P |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,064,785 (GRCm39) |
N406S |
probably benign |
Het |
| Nbr1 |
A |
T |
11: 101,463,290 (GRCm39) |
M586L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,693,070 (GRCm39) |
R677H |
probably benign |
Het |
| Nlrc3 |
A |
C |
16: 3,781,899 (GRCm39) |
S503R |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,064,425 (GRCm39) |
F968I |
probably benign |
Het |
| Onecut1 |
A |
T |
9: 74,770,614 (GRCm39) |
T346S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,455 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8b35 |
G |
A |
9: 37,904,307 (GRCm39) |
C168Y |
probably damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,257 (GRCm39) |
N57D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,730,966 (GRCm39) |
K3156M |
unknown |
Het |
| Pigo |
C |
T |
4: 43,024,562 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,809,072 (GRCm39) |
F580S |
probably damaging |
Het |
| Ppm1e |
T |
A |
11: 87,121,716 (GRCm39) |
Y747F |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,361,952 (GRCm39) |
F69L |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,257,287 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,020 (GRCm39) |
N139K |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,339,191 (GRCm39) |
T1777S |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,584 (GRCm39) |
H844L |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,471 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Sec14l5 |
A |
G |
16: 4,985,004 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,801,356 (GRCm39) |
N435K |
probably damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,226 (GRCm39) |
K223E |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,106,502 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,811 (GRCm39) |
F817S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,796,632 (GRCm39) |
N197D |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,207 (GRCm39) |
T183A |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,315,586 (GRCm39) |
M156L |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,291,160 (GRCm39) |
V196A |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,983,950 (GRCm39) |
Y592H |
probably benign |
Het |
| Zfp553 |
T |
C |
7: 126,836,202 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp619 |
C |
T |
7: 39,185,152 (GRCm39) |
A394V |
unknown |
Het |
| Zfp985 |
A |
G |
4: 147,667,702 (GRCm39) |
Y190C |
probably benign |
Het |
| Zmynd10 |
T |
A |
9: 107,427,536 (GRCm39) |
D309E |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,352,646 (GRCm39) |
L73P |
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 |
|
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 |
|
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'- GTCCCAGGTGAATGAATATGCATG -3'
(R):5'- AAAGGAGTAAGCTCACCCGTG -3'
Sequencing Primer
(F):5'- CATGGATTTCCTGGGGCAAATCC -3'
(R):5'- GAGTAAGCTCACCCGTGTCCAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation