Incidental Mutation 'T0975:Plekhm2'
| ID |
262160 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
T0975 (G3)
of strain
714
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141353043-141391457 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
TTCCTCCTCCT to TTCCTCCT
at 141359292 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: ENSMUST00000136102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150229
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
TAA |
TAAA |
11: 3,887,945 (GRCm39) |
|
probably null |
Het |
| 4930556J24Rik |
C |
T |
11: 3,926,324 (GRCm39) |
A27T |
unknown |
Het |
| Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
| Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
| Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
| Bpifb5 |
C |
A |
2: 154,071,384 (GRCm39) |
|
probably null |
Het |
| Castor1 |
G |
C |
11: 4,170,445 (GRCm39) |
G147A |
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,246 (GRCm39) |
A455T |
probably damaging |
Het |
| Ccng1 |
A |
C |
11: 40,644,871 (GRCm39) |
S9A |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,082,336 (GRCm39) |
T164A |
probably benign |
Het |
| Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
| Chrng |
T |
C |
1: 87,138,348 (GRCm39) |
S380P |
probably benign |
Het |
| Clspn |
ACGGCGGCGGCGGCG |
ACGGCGGCGGCGGCGGCGGCG |
4: 126,460,230 (GRCm39) |
|
probably benign |
Het |
| Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,353,992 (GRCm39) |
R593C |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,950 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,840,130 (GRCm39) |
S1255G |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,727 (GRCm39) |
S388C |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,094,386 (GRCm39) |
T42A |
probably damaging |
Het |
| Emid1 |
A |
C |
11: 5,078,884 (GRCm39) |
L353V |
probably benign |
Het |
| Epn3 |
A |
G |
11: 94,382,733 (GRCm39) |
|
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,843 (GRCm39) |
E180G |
probably benign |
Het |
| Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
| Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
| Gm9972 |
GA |
GAA |
11: 42,927,597 (GRCm39) |
|
probably null |
Het |
| Hmmr |
G |
C |
11: 40,614,243 (GRCm39) |
N148K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,796 (GRCm39) |
R304K |
possibly damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,485,221 (GRCm39) |
V407M |
probably damaging |
Het |
| Inpp5j |
G |
T |
11: 3,452,527 (GRCm39) |
T241N |
possibly damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
C |
T |
11: 5,145,105 (GRCm39) |
A424T |
probably benign |
Het |
| Mat2b |
G |
A |
11: 40,570,918 (GRCm39) |
T302I |
probably benign |
Het |
| Mtmr3 |
C |
T |
11: 4,438,441 (GRCm39) |
R671K |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,632 (GRCm39) |
C520R |
probably benign |
Het |
| Nacad |
GCAGGGTCAGGGTC |
GCAGGGTCAGGGTCAGGGTC |
11: 6,549,750 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
C |
11: 6,551,622 (GRCm39) |
N523S |
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,151 (GRCm39) |
P823S |
probably benign |
Het |
| Nfrkb |
G |
C |
9: 31,308,379 (GRCm39) |
A230P |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,062 (GRCm39) |
E223G |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,365,391 (GRCm39) |
Y1107F |
probably damaging |
Het |
| Or10ak9 |
G |
T |
4: 118,726,500 (GRCm39) |
R174M |
probably benign |
Het |
| Or13g1 |
A |
T |
7: 85,955,492 (GRCm39) |
Y276* |
probably null |
Het |
| Or6c35 |
A |
G |
10: 129,169,314 (GRCm39) |
D188G |
probably benign |
Het |
| Osm |
A |
G |
11: 4,189,588 (GRCm39) |
D124G |
probably benign |
Het |
| Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
| Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
| Sytl1 |
TCTGC |
TC |
4: 132,984,305 (GRCm39) |
|
probably benign |
Het |
| Tcn2 |
G |
C |
11: 3,873,487 (GRCm39) |
F286L |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,560,712 (GRCm39) |
S10P |
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,501,096 (GRCm39) |
R235Q |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,499,100 (GRCm39) |
|
probably benign |
Het |
| Tns3 |
G |
T |
11: 8,401,146 (GRCm39) |
L1051M |
probably benign |
Het |
| Tns3 |
T |
G |
11: 8,429,518 (GRCm39) |
E806A |
probably benign |
Het |
| Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
| Txnrd2 |
A |
G |
16: 18,294,315 (GRCm39) |
H436R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,179,092 (GRCm39) |
P2001S |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,120 (GRCm39) |
M332K |
probably benign |
Het |
| Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,794,067 (GRCm39) |
D206G |
probably damaging |
Het |
| Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
| Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
probably benign |
Het |
| Zpld2 |
GTG |
GTGCTG |
4: 133,929,940 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-02-04 |
Incidental Mutation