Incidental Mutation 'R7742:Plekhm2'
ID |
596598 |
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 |
045798-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7742 (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 141355150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 959
(L959P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030751]
[ENSMUST00000038661]
[ENSMUST00000084203]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030751
AA Change: L939P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000030751 Gene: ENSMUSG00000028917 AA Change: L939P
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 benign
Transcript: ENSMUST00000084203
AA Change: L959P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000081221 Gene: ENSMUSG00000028917 AA Change: L959P
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 |
0.0834 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,714 (GRCm39) |
K417R |
possibly damaging |
Het |
Adgrl2 |
A |
T |
3: 148,542,064 (GRCm39) |
I886N |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,928 (GRCm39) |
T417A |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,538 (GRCm39) |
M1V |
probably null |
Het |
Col3a1 |
A |
G |
1: 45,384,161 (GRCm39) |
H1155R |
unknown |
Het |
Csad |
A |
G |
15: 102,095,599 (GRCm39) |
S153P |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
Dmtf1 |
C |
T |
5: 9,172,457 (GRCm39) |
|
probably benign |
Het |
Dna2 |
T |
C |
10: 62,809,073 (GRCm39) |
I1055T |
probably benign |
Het |
Dnai4 |
C |
T |
4: 102,947,630 (GRCm39) |
M215I |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,076,232 (GRCm39) |
D2975G |
probably benign |
Het |
Eif1ad7 |
A |
T |
12: 88,238,476 (GRCm39) |
Y95N |
probably damaging |
Het |
F5 |
G |
T |
1: 164,035,453 (GRCm39) |
V1876F |
possibly damaging |
Het |
Fam81b |
T |
A |
13: 76,399,809 (GRCm39) |
I150F |
probably damaging |
Het |
Fbl |
T |
A |
7: 27,877,684 (GRCm39) |
V252E |
probably damaging |
Het |
Fbln1 |
A |
G |
15: 85,124,917 (GRCm39) |
D475G |
probably damaging |
Het |
Fshr |
T |
A |
17: 89,293,590 (GRCm39) |
I363F |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,568,635 (GRCm39) |
L1328P |
probably damaging |
Het |
Hcfc2 |
T |
A |
10: 82,547,659 (GRCm39) |
|
probably null |
Het |
Ifi209 |
C |
A |
1: 173,470,198 (GRCm39) |
T262K |
probably damaging |
Het |
Kif2b |
T |
A |
11: 91,467,411 (GRCm39) |
I291F |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 40,712,641 (GRCm39) |
D3231V |
|
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nudcd1 |
T |
C |
15: 44,268,754 (GRCm39) |
K209E |
probably benign |
Het |
Nup98 |
C |
T |
7: 101,802,464 (GRCm39) |
|
probably null |
Het |
Odad3 |
T |
C |
9: 21,904,193 (GRCm39) |
D361G |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,829 (GRCm39) |
Q65R |
probably damaging |
Het |
Or2j6 |
T |
A |
7: 139,980,234 (GRCm39) |
I242F |
probably benign |
Het |
Pign |
T |
C |
1: 105,480,122 (GRCm39) |
I851V |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,204 (GRCm39) |
L19Q |
unknown |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,378,459 (GRCm39) |
I627T |
possibly damaging |
Het |
Prl7b1 |
A |
T |
13: 27,791,031 (GRCm39) |
M18K |
probably benign |
Het |
Ptpn3 |
T |
A |
4: 57,265,092 (GRCm39) |
|
probably null |
Het |
Rp1 |
A |
T |
1: 4,240,457 (GRCm39) |
F899I |
unknown |
Het |
Sis |
T |
A |
3: 72,832,431 (GRCm39) |
Y1026F |
probably benign |
Het |
Slc4a10 |
T |
G |
2: 62,127,194 (GRCm39) |
V879G |
probably damaging |
Het |
Specc1l |
T |
C |
10: 75,082,251 (GRCm39) |
I549T |
probably benign |
Het |
Spmip11 |
T |
A |
15: 98,483,250 (GRCm39) |
V60E |
probably damaging |
Het |
Sprr2a3 |
G |
A |
3: 92,196,066 (GRCm39) |
V58M |
unknown |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Syne2 |
C |
T |
12: 76,106,209 (GRCm39) |
H785Y |
probably benign |
Het |
Tat |
T |
A |
8: 110,718,242 (GRCm39) |
N42K |
probably benign |
Het |
Tmem184a |
C |
T |
5: 139,792,744 (GRCm39) |
A271T |
probably benign |
Het |
Tmprss11d |
T |
C |
5: 86,451,493 (GRCm39) |
I411V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,733,872 (GRCm39) |
I4468V |
unknown |
Het |
Vcam1 |
T |
C |
3: 115,909,734 (GRCm39) |
N531S |
possibly damaging |
Het |
Vmn1r257 |
C |
T |
7: 22,391,343 (GRCm39) |
V134I |
probably benign |
Het |
Xcl1 |
T |
C |
1: 164,763,041 (GRCm39) |
T7A |
unknown |
Het |
Zc3h11a |
A |
G |
1: 133,565,173 (GRCm39) |
V242A |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,971,025 (GRCm39) |
Y335N |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,731,731 (GRCm39) |
I675V |
unknown |
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 |
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'- ACACATTGACAATGGGGCCC -3'
(R):5'- GATTGCCAAACCAGCTTCTTTC -3'
Sequencing Primer
(F):5'- ATGGGGCCCAAAGTTTCTGACTATC -3'
(R):5'- TTTCGCTCCCTGGGCACAG -3'
|
Posted On |
2019-11-26 |