Incidental Mutation 'IGL02010:Plekhm2'
| ID |
183352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhm2
|
| Ensembl Gene |
ENSMUSG00000028917 |
| Gene Name |
pleckstrin homology domain containing, family M (with RUN domain) member 2 |
| Synonyms |
2310034J19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 141364730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030751]
[ENSMUST00000084203]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030751
|
| SMART Domains |
Protein: ENSMUSP00000030751
Gene: ENSMUSG00000028917
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081221
Gene: ENSMUSG00000028917
| 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: ENSMUST00000140223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141844
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
| Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
| Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
| Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
| Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
| Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
| Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
| F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
| Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
| Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
| Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
| Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
| Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
| M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
| Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
| Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
| Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
| Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
| Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
| Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
| Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
| Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
| Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
| Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
| Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation