Incidental Mutation 'R1823:Plekhh2'
ID |
206618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhh2
|
Ensembl Gene |
ENSMUSG00000040852 |
Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 |
Synonyms |
|
MMRRC Submission |
039851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R1823 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
84511895-84622142 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84575189 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 708
(Y708C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
AlphaFold |
Q8C115 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: Y708C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039628 Gene: ENSMUSG00000040852 AA Change: Y708C
Domain | Start | End | E-Value | Type |
coiled coil region
|
19 |
84 |
N/A |
INTRINSIC |
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
174 |
N/A |
INTRINSIC |
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
low complexity region
|
612 |
651 |
N/A |
INTRINSIC |
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
PH
|
703 |
798 |
4.7e-19 |
SMART |
PH
|
811 |
920 |
1.15e-4 |
SMART |
MyTH4
|
954 |
1109 |
8.49e-39 |
SMART |
B41
|
1116 |
1353 |
1.01e-27 |
SMART |
|
Meta Mutation Damage Score |
0.7585  |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
98% (87/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810041L15Rik |
T |
C |
15: 84,406,468 (GRCm38) |
T213A |
probably benign |
Het |
Adcy1 |
G |
A |
11: 7,161,312 (GRCm38) |
V868I |
probably benign |
Het |
Ahnak |
G |
T |
19: 9,004,905 (GRCm38) |
M1184I |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,511,488 (GRCm38) |
E1153G |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,562,727 (GRCm38) |
N260S |
probably null |
Het |
Ankrd6 |
A |
G |
4: 32,824,427 (GRCm38) |
L129P |
probably damaging |
Het |
Aox2 |
A |
T |
1: 58,312,359 (GRCm38) |
T702S |
probably benign |
Het |
Apobec1 |
G |
T |
6: 122,578,886 (GRCm38) |
T204K |
possibly damaging |
Het |
Arhgef19 |
A |
G |
4: 141,249,146 (GRCm38) |
R433G |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,648,644 (GRCm38) |
H110Q |
possibly damaging |
Het |
Btnl4 |
C |
T |
17: 34,475,852 (GRCm38) |
|
probably null |
Het |
Camsap2 |
T |
C |
1: 136,273,783 (GRCm38) |
T662A |
possibly damaging |
Het |
Cbs |
G |
A |
17: 31,624,271 (GRCm38) |
H229Y |
probably damaging |
Het |
Cct8 |
G |
A |
16: 87,490,554 (GRCm38) |
R111* |
probably null |
Het |
Cdc42bpb |
C |
T |
12: 111,327,559 (GRCm38) |
A250T |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,741,347 (GRCm38) |
|
probably benign |
Het |
Ckap2l |
A |
G |
2: 129,275,579 (GRCm38) |
F559L |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,217,557 (GRCm38) |
Y141C |
probably damaging |
Het |
Dbf4 |
T |
C |
5: 8,397,539 (GRCm38) |
N557S |
probably benign |
Het |
Dct |
T |
G |
14: 118,036,523 (GRCm38) |
N324T |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,278,502 (GRCm38) |
L999* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,543,097 (GRCm38) |
|
probably null |
Het |
Dync2li1 |
A |
T |
17: 84,649,797 (GRCm38) |
D330V |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 138,180,491 (GRCm38) |
D1267E |
probably benign |
Het |
Enc1 |
A |
G |
13: 97,245,978 (GRCm38) |
E332G |
possibly damaging |
Het |
Fat2 |
C |
T |
11: 55,256,780 (GRCm38) |
V3879I |
probably benign |
Het |
Fh1 |
A |
T |
1: 175,616,548 (GRCm38) |
I117K |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,337,091 (GRCm38) |
L227P |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 17,877,053 (GRCm38) |
M225L |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,770,688 (GRCm38) |
I3528F |
probably damaging |
Het |
Grm7 |
A |
G |
6: 111,207,769 (GRCm38) |
T354A |
probably benign |
Het |
Ift27 |
T |
A |
15: 78,173,778 (GRCm38) |
I9F |
possibly damaging |
Het |
Igf1r |
A |
G |
7: 68,194,981 (GRCm38) |
D834G |
possibly damaging |
Het |
Igsf9b |
T |
A |
9: 27,331,732 (GRCm38) |
L738Q |
probably damaging |
Het |
Itgam |
A |
T |
7: 128,064,732 (GRCm38) |
T44S |
probably benign |
Het |
Ivd |
T |
A |
2: 118,862,034 (GRCm38) |
I5N |
probably benign |
Het |
Jcad |
T |
C |
18: 4,675,780 (GRCm38) |
S1181P |
probably damaging |
Het |
Kctd18 |
A |
G |
1: 57,956,365 (GRCm38) |
V251A |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,825,097 (GRCm38) |
|
probably benign |
Het |
Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,178,670 (GRCm38) |
M909I |
probably benign |
Het |
Ndufv3 |
G |
A |
17: 31,531,245 (GRCm38) |
R467Q |
probably damaging |
Het |
Nkpd1 |
G |
A |
7: 19,523,252 (GRCm38) |
V319M |
probably damaging |
Het |
Olfr1216 |
A |
G |
2: 89,013,378 (GRCm38) |
S229P |
probably benign |
Het |
Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
Olfr1453 |
C |
A |
19: 13,027,817 (GRCm38) |
V171L |
probably benign |
Het |
Olfr31 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
Olfr366 |
T |
C |
2: 37,220,332 (GRCm38) |
V281A |
probably damaging |
Het |
Olfr406 |
C |
T |
11: 74,270,217 (GRCm38) |
A276V |
probably damaging |
Het |
Olfr450 |
G |
T |
6: 42,818,268 (GRCm38) |
A266S |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,402,818 (GRCm38) |
T622A |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,098,176 (GRCm38) |
|
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,903,658 (GRCm38) |
|
probably null |
Het |
Pnp |
T |
C |
14: 50,950,329 (GRCm38) |
F107L |
probably damaging |
Het |
Postn |
T |
A |
3: 54,385,287 (GRCm38) |
|
probably null |
Het |
Prcp |
A |
T |
7: 92,928,675 (GRCm38) |
D349V |
probably damaging |
Het |
Prl3a1 |
A |
T |
13: 27,270,194 (GRCm38) |
I52F |
probably damaging |
Het |
Pym1 |
G |
A |
10: 128,766,044 (GRCm38) |
|
probably benign |
Het |
Rad9a |
A |
T |
19: 4,197,242 (GRCm38) |
I248N |
probably damaging |
Het |
Ror2 |
T |
G |
13: 53,110,305 (GRCm38) |
E917A |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,579,910 (GRCm38) |
|
probably benign |
Het |
Sema6d |
A |
G |
2: 124,659,556 (GRCm38) |
|
probably null |
Het |
Slc4a2 |
C |
T |
5: 24,427,620 (GRCm38) |
A12V |
probably damaging |
Het |
Slco6b1 |
T |
G |
1: 96,961,176 (GRCm38) |
|
noncoding transcript |
Het |
Slf2 |
A |
T |
19: 44,935,248 (GRCm38) |
H167L |
possibly damaging |
Het |
Snx9 |
G |
T |
17: 5,920,671 (GRCm38) |
G429V |
probably damaging |
Het |
Sod3 |
G |
T |
5: 52,368,162 (GRCm38) |
V68L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,246,549 (GRCm38) |
D2351E |
probably benign |
Het |
Srpk3 |
G |
A |
X: 73,777,955 (GRCm38) |
R425Q |
possibly damaging |
Het |
Tatdn1 |
C |
T |
15: 58,916,156 (GRCm38) |
G171E |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
Tnfsf9 |
A |
G |
17: 57,105,738 (GRCm38) |
T103A |
probably benign |
Het |
Tpm3-rs7 |
T |
C |
14: 113,315,163 (GRCm38) |
L163P |
possibly damaging |
Het |
Trim52 |
T |
A |
14: 106,106,967 (GRCm38) |
C20S |
probably damaging |
Het |
Ucp1 |
C |
T |
8: 83,294,032 (GRCm38) |
T157I |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,214,414 (GRCm38) |
L794Q |
probably benign |
Het |
Vmn1r5 |
T |
A |
6: 56,985,595 (GRCm38) |
V85E |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,410,406 (GRCm38) |
I275T |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 87,037,872 (GRCm38) |
I820M |
probably damaging |
Het |
Wscd1 |
C |
A |
11: 71,760,218 (GRCm38) |
P124T |
probably benign |
Het |
Zfp780b |
A |
T |
7: 27,963,100 (GRCm38) |
C677S |
possibly damaging |
Het |
|
Other mutations in Plekhh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Plekhh2
|
APN |
17 |
84,521,775 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00514:Plekhh2
|
APN |
17 |
84,596,306 (GRCm38) |
critical splice donor site |
probably null |
|
IGL00773:Plekhh2
|
APN |
17 |
84,606,868 (GRCm38) |
missense |
probably benign |
0.01 |
IGL00985:Plekhh2
|
APN |
17 |
84,563,928 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01116:Plekhh2
|
APN |
17 |
84,606,928 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL01394:Plekhh2
|
APN |
17 |
84,557,430 (GRCm38) |
missense |
probably benign |
0.24 |
IGL01419:Plekhh2
|
APN |
17 |
84,583,552 (GRCm38) |
splice site |
probably benign |
|
IGL01932:Plekhh2
|
APN |
17 |
84,577,261 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02097:Plekhh2
|
APN |
17 |
84,599,180 (GRCm38) |
missense |
possibly damaging |
0.69 |
IGL02157:Plekhh2
|
APN |
17 |
84,566,942 (GRCm38) |
splice site |
probably benign |
|
IGL02163:Plekhh2
|
APN |
17 |
84,590,795 (GRCm38) |
missense |
probably benign |
0.45 |
IGL02237:Plekhh2
|
APN |
17 |
84,575,785 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02322:Plekhh2
|
APN |
17 |
84,589,466 (GRCm38) |
nonsense |
probably null |
|
IGL02422:Plekhh2
|
APN |
17 |
84,563,809 (GRCm38) |
splice site |
probably benign |
|
IGL02483:Plekhh2
|
APN |
17 |
84,596,260 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL02493:Plekhh2
|
APN |
17 |
84,606,963 (GRCm38) |
critical splice donor site |
probably null |
|
IGL03007:Plekhh2
|
APN |
17 |
84,574,960 (GRCm38) |
missense |
possibly damaging |
0.65 |
R0003:Plekhh2
|
UTSW |
17 |
84,557,392 (GRCm38) |
missense |
probably damaging |
1.00 |
R0005:Plekhh2
|
UTSW |
17 |
84,586,433 (GRCm38) |
missense |
probably benign |
0.16 |
R0099:Plekhh2
|
UTSW |
17 |
84,591,672 (GRCm38) |
nonsense |
probably null |
|
R0331:Plekhh2
|
UTSW |
17 |
84,586,366 (GRCm38) |
missense |
possibly damaging |
0.81 |
R0883:Plekhh2
|
UTSW |
17 |
84,618,031 (GRCm38) |
missense |
probably benign |
0.11 |
R1051:Plekhh2
|
UTSW |
17 |
84,521,827 (GRCm38) |
critical splice donor site |
probably null |
|
R1084:Plekhh2
|
UTSW |
17 |
84,571,126 (GRCm38) |
missense |
probably damaging |
0.99 |
R1351:Plekhh2
|
UTSW |
17 |
84,577,146 (GRCm38) |
splice site |
probably benign |
|
R1459:Plekhh2
|
UTSW |
17 |
84,610,775 (GRCm38) |
nonsense |
probably null |
|
R1469:Plekhh2
|
UTSW |
17 |
84,575,771 (GRCm38) |
missense |
probably benign |
0.03 |
R1469:Plekhh2
|
UTSW |
17 |
84,575,771 (GRCm38) |
missense |
probably benign |
0.03 |
R1510:Plekhh2
|
UTSW |
17 |
84,559,576 (GRCm38) |
splice site |
probably null |
|
R1699:Plekhh2
|
UTSW |
17 |
84,577,184 (GRCm38) |
nonsense |
probably null |
|
R1738:Plekhh2
|
UTSW |
17 |
84,566,697 (GRCm38) |
missense |
possibly damaging |
0.67 |
R1773:Plekhh2
|
UTSW |
17 |
84,599,265 (GRCm38) |
missense |
probably damaging |
1.00 |
R1796:Plekhh2
|
UTSW |
17 |
84,599,133 (GRCm38) |
critical splice acceptor site |
probably null |
|
R1998:Plekhh2
|
UTSW |
17 |
84,606,877 (GRCm38) |
missense |
possibly damaging |
0.58 |
R2437:Plekhh2
|
UTSW |
17 |
84,586,479 (GRCm38) |
splice site |
probably null |
|
R2847:Plekhh2
|
UTSW |
17 |
84,597,966 (GRCm38) |
missense |
probably damaging |
1.00 |
R4088:Plekhh2
|
UTSW |
17 |
84,617,999 (GRCm38) |
missense |
probably benign |
0.10 |
R4227:Plekhh2
|
UTSW |
17 |
84,566,795 (GRCm38) |
missense |
probably benign |
0.00 |
R4249:Plekhh2
|
UTSW |
17 |
84,586,337 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4347:Plekhh2
|
UTSW |
17 |
84,619,702 (GRCm38) |
missense |
probably benign |
0.12 |
R4562:Plekhh2
|
UTSW |
17 |
84,566,097 (GRCm38) |
missense |
probably benign |
0.00 |
R4649:Plekhh2
|
UTSW |
17 |
84,575,263 (GRCm38) |
missense |
probably damaging |
1.00 |
R4737:Plekhh2
|
UTSW |
17 |
84,563,959 (GRCm38) |
missense |
probably benign |
|
R4743:Plekhh2
|
UTSW |
17 |
84,571,120 (GRCm38) |
missense |
probably damaging |
1.00 |
R4858:Plekhh2
|
UTSW |
17 |
84,600,697 (GRCm38) |
missense |
probably damaging |
1.00 |
R5036:Plekhh2
|
UTSW |
17 |
84,571,761 (GRCm38) |
missense |
probably damaging |
0.99 |
R5260:Plekhh2
|
UTSW |
17 |
84,577,165 (GRCm38) |
missense |
probably damaging |
0.99 |
R5385:Plekhh2
|
UTSW |
17 |
84,557,466 (GRCm38) |
missense |
probably benign |
0.00 |
R5409:Plekhh2
|
UTSW |
17 |
84,586,478 (GRCm38) |
critical splice donor site |
probably null |
|
R5510:Plekhh2
|
UTSW |
17 |
84,566,847 (GRCm38) |
missense |
probably benign |
|
R5557:Plekhh2
|
UTSW |
17 |
84,560,152 (GRCm38) |
missense |
probably benign |
0.10 |
R5684:Plekhh2
|
UTSW |
17 |
84,597,918 (GRCm38) |
missense |
probably damaging |
1.00 |
R5685:Plekhh2
|
UTSW |
17 |
84,569,882 (GRCm38) |
missense |
probably damaging |
1.00 |
R5724:Plekhh2
|
UTSW |
17 |
84,566,805 (GRCm38) |
missense |
probably benign |
0.00 |
R5742:Plekhh2
|
UTSW |
17 |
84,597,980 (GRCm38) |
missense |
probably damaging |
1.00 |
R5817:Plekhh2
|
UTSW |
17 |
84,571,726 (GRCm38) |
missense |
possibly damaging |
0.86 |
R6218:Plekhh2
|
UTSW |
17 |
84,591,564 (GRCm38) |
missense |
probably benign |
0.03 |
R6334:Plekhh2
|
UTSW |
17 |
84,566,866 (GRCm38) |
missense |
probably benign |
|
R6345:Plekhh2
|
UTSW |
17 |
84,575,787 (GRCm38) |
missense |
probably benign |
0.01 |
R6617:Plekhh2
|
UTSW |
17 |
84,566,287 (GRCm38) |
missense |
possibly damaging |
0.65 |
R6755:Plekhh2
|
UTSW |
17 |
84,591,585 (GRCm38) |
missense |
probably damaging |
1.00 |
R6864:Plekhh2
|
UTSW |
17 |
84,617,999 (GRCm38) |
missense |
probably benign |
0.10 |
R7171:Plekhh2
|
UTSW |
17 |
84,521,788 (GRCm38) |
missense |
probably damaging |
0.96 |
R7413:Plekhh2
|
UTSW |
17 |
84,566,296 (GRCm38) |
missense |
probably benign |
0.03 |
R7585:Plekhh2
|
UTSW |
17 |
84,577,180 (GRCm38) |
missense |
probably benign |
0.11 |
R7640:Plekhh2
|
UTSW |
17 |
84,610,776 (GRCm38) |
missense |
possibly damaging |
0.50 |
R7733:Plekhh2
|
UTSW |
17 |
84,583,524 (GRCm38) |
nonsense |
probably null |
|
R7877:Plekhh2
|
UTSW |
17 |
84,575,006 (GRCm38) |
missense |
probably benign |
|
R8085:Plekhh2
|
UTSW |
17 |
84,597,956 (GRCm38) |
missense |
probably damaging |
0.98 |
R8206:Plekhh2
|
UTSW |
17 |
84,590,849 (GRCm38) |
missense |
possibly damaging |
0.47 |
R8296:Plekhh2
|
UTSW |
17 |
84,600,685 (GRCm38) |
missense |
probably damaging |
0.98 |
R8344:Plekhh2
|
UTSW |
17 |
84,571,761 (GRCm38) |
missense |
possibly damaging |
0.64 |
R8438:Plekhh2
|
UTSW |
17 |
84,569,951 (GRCm38) |
missense |
probably benign |
|
R8487:Plekhh2
|
UTSW |
17 |
84,557,481 (GRCm38) |
missense |
possibly damaging |
0.55 |
R8708:Plekhh2
|
UTSW |
17 |
84,574,993 (GRCm38) |
missense |
probably benign |
0.00 |
R8830:Plekhh2
|
UTSW |
17 |
84,521,803 (GRCm38) |
missense |
probably damaging |
1.00 |
R8847:Plekhh2
|
UTSW |
17 |
84,571,051 (GRCm38) |
missense |
probably benign |
0.00 |
R8918:Plekhh2
|
UTSW |
17 |
84,599,193 (GRCm38) |
missense |
possibly damaging |
0.80 |
R9047:Plekhh2
|
UTSW |
17 |
84,590,762 (GRCm38) |
missense |
probably damaging |
0.99 |
R9404:Plekhh2
|
UTSW |
17 |
84,571,040 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9428:Plekhh2
|
UTSW |
17 |
84,566,413 (GRCm38) |
missense |
probably benign |
|
R9516:Plekhh2
|
UTSW |
17 |
84,610,812 (GRCm38) |
missense |
probably benign |
0.00 |
R9559:Plekhh2
|
UTSW |
17 |
84,591,589 (GRCm38) |
missense |
probably damaging |
1.00 |
R9589:Plekhh2
|
UTSW |
17 |
84,547,490 (GRCm38) |
missense |
possibly damaging |
0.90 |
R9641:Plekhh2
|
UTSW |
17 |
84,566,702 (GRCm38) |
missense |
probably damaging |
1.00 |
R9659:Plekhh2
|
UTSW |
17 |
84,547,464 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9788:Plekhh2
|
UTSW |
17 |
84,547,464 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTATGCCATTCCTCCGGATG -3'
(R):5'- AGTCTGTTTTACAGTGTGAGGAAC -3'
Sequencing Primer
(F):5'- TATCCCATAGACGCAGAGTGTTCG -3'
(R):5'- AGGAACTCAGGCCCTAACGG -3'
|
Posted On |
2014-06-23 |