Incidental Mutation 'R9383:Plekhm2'
| ID |
710140 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9383 (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 141359612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 385
(M385K)
|
| 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: M385K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
AA Change: M385K
| 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: M405K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
AA Change: M405K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,661,162 (GRCm39) |
E124G |
|
Het |
| Atp1a2 |
T |
C |
1: 172,107,334 (GRCm39) |
I729V |
probably benign |
Het |
| Ccn2 |
T |
G |
10: 24,471,883 (GRCm39) |
V58G |
possibly damaging |
Het |
| Chd2 |
T |
A |
7: 73,098,918 (GRCm39) |
E1467V |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,803,110 (GRCm39) |
D1285G |
unknown |
Het |
| Coro7 |
A |
G |
16: 4,452,888 (GRCm39) |
C287R |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,283,045 (GRCm39) |
E134G |
probably benign |
Het |
| Csf3r |
C |
T |
4: 125,937,239 (GRCm39) |
P708S |
possibly damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,646,819 (GRCm39) |
I1070K |
probably benign |
Het |
| Dnm2 |
G |
A |
9: 21,383,920 (GRCm39) |
V234M |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,350,287 (GRCm39) |
M82K |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,776,950 (GRCm39) |
E312K |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,756,620 (GRCm39) |
E1240G |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,028,918 (GRCm39) |
S479G |
probably damaging |
Het |
| Gpr153 |
T |
C |
4: 152,367,516 (GRCm39) |
S456P |
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,575,761 (GRCm39) |
M388K |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,227 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,684,883 (GRCm39) |
E244G |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,700,012 (GRCm39) |
C620S |
unknown |
Het |
| Maz |
G |
A |
7: 126,624,083 (GRCm39) |
Q358* |
probably null |
Het |
| Mcc |
A |
T |
18: 44,575,985 (GRCm39) |
I901N |
probably benign |
Het |
| Megf11 |
T |
G |
9: 64,545,732 (GRCm39) |
C172G |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,352,820 (GRCm39) |
Y53C |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,213,251 (GRCm39) |
T391I |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,918 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
G |
4: 115,891,473 (GRCm39) |
V302A |
probably benign |
Het |
| Odf2 |
T |
A |
2: 29,791,249 (GRCm39) |
L181H |
probably damaging |
Het |
| Opn1sw |
A |
G |
6: 29,378,000 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,854 (GRCm39) |
I17T |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,827,742 (GRCm39) |
Y712* |
probably null |
Het |
| Pkd1 |
C |
T |
17: 24,794,900 (GRCm39) |
R2196C |
probably damaging |
Het |
| Pkd1l3 |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
8: 110,350,601 (GRCm39) |
|
probably benign |
Het |
| Pole |
T |
C |
5: 110,438,892 (GRCm39) |
V164A |
possibly damaging |
Het |
| Prr19 |
T |
A |
7: 25,002,335 (GRCm39) |
F11Y |
probably damaging |
Het |
| Prtg |
G |
T |
9: 72,757,143 (GRCm39) |
L355F |
probably benign |
Het |
| Raph1 |
C |
A |
1: 60,564,829 (GRCm39) |
M219I |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,839,094 (GRCm39) |
D140G |
possibly damaging |
Het |
| Serpina5 |
T |
C |
12: 104,070,131 (GRCm39) |
S343P |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,889,125 (GRCm39) |
K466R |
probably benign |
Het |
| Slc43a1 |
G |
A |
2: 84,690,506 (GRCm39) |
V518M |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,749 (GRCm39) |
L125P |
probably damaging |
Het |
| Slc4a7 |
C |
A |
14: 14,766,803 (GRCm38) |
C585* |
probably null |
Het |
| Snx19 |
A |
G |
9: 30,347,196 (GRCm39) |
E713G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,655,561 (GRCm39) |
V715M |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,278,043 (GRCm39) |
M322L |
probably benign |
Het |
| Top2a |
G |
A |
11: 98,901,884 (GRCm39) |
R449* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,796,474 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
A |
C |
13: 23,219,095 (GRCm39) |
R196S |
probably benign |
Het |
| Vmn1r43 |
A |
T |
6: 89,846,552 (GRCm39) |
H311Q |
possibly damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,247,009 (GRCm39) |
T308A |
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,354,479 (GRCm39) |
Y99N |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,355 (GRCm39) |
Y277C |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,503 (GRCm39) |
H345Y |
possibly damaging |
Het |
| Zyg11a |
T |
C |
4: 108,046,926 (GRCm39) |
E516G |
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 |
|
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 |
|
|
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'- TCGACTGTAAACCGGTAGAAGTC -3'
(R):5'- CTAGTCAGCAGAAATGTGGCC -3'
Sequencing Primer
(F):5'- CTGTAAACCGGTAGAAGTCCATGG -3'
(R):5'- CAGCAGAAATGTGGCCAGCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation