Incidental Mutation 'R0331:Plekhh2'
| ID |
26111 |
| 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 |
038540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84893794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 870
(E870K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047206
AA Change: E870K
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: E870K
| 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 |
0.1109 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.8%
- 20x: 91.7%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
A |
8: 79,956,021 (GRCm39) |
T79S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,817,684 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
G |
A |
13: 91,908,183 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
A |
1: 171,078,541 (GRCm39) |
S54T |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,203,577 (GRCm39) |
S96P |
probably benign |
Het |
| Aip |
G |
T |
19: 4,168,247 (GRCm39) |
T40K |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,012,984 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,103,618 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,538,161 (GRCm39) |
T465A |
possibly damaging |
Het |
| Atp11a |
C |
T |
8: 12,866,953 (GRCm39) |
Q127* |
probably null |
Het |
| Axin1 |
A |
G |
17: 26,362,081 (GRCm39) |
R142G |
probably damaging |
Het |
| Bcat1 |
T |
A |
6: 144,993,040 (GRCm39) |
E86V |
probably benign |
Het |
| Brd4 |
G |
A |
17: 32,421,489 (GRCm39) |
P749L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,496,394 (GRCm39) |
|
probably null |
Het |
| Capza2 |
A |
T |
6: 17,665,102 (GRCm39) |
N237I |
probably benign |
Het |
| Cd2ap |
A |
T |
17: 43,116,192 (GRCm39) |
V556E |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,968,460 (GRCm39) |
P124L |
probably damaging |
Het |
| Cfap65 |
G |
T |
1: 74,968,461 (GRCm39) |
P124T |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,235,225 (GRCm39) |
V488A |
possibly damaging |
Het |
| Ckmt1 |
A |
T |
2: 121,193,337 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
G |
13: 93,280,911 (GRCm39) |
E35A |
possibly damaging |
Het |
| Col7a1 |
A |
G |
9: 108,796,570 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
C |
T |
5: 37,422,657 (GRCm39) |
L155F |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,291,227 (GRCm39) |
T33S |
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,544 (GRCm39) |
K48E |
probably benign |
Het |
| Dlst |
T |
C |
12: 85,165,586 (GRCm39) |
V103A |
probably damaging |
Het |
| Dohh |
C |
T |
10: 81,223,646 (GRCm39) |
T233I |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,897,043 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,914,703 (GRCm39) |
Q286* |
probably null |
Het |
| Enpp6 |
C |
A |
8: 47,535,484 (GRCm39) |
T343K |
probably damaging |
Het |
| Fbxw11 |
T |
A |
11: 32,661,895 (GRCm39) |
F112I |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,622,215 (GRCm39) |
N231K |
probably benign |
Het |
| Gm6370 |
A |
T |
5: 146,430,576 (GRCm39) |
T254S |
probably benign |
Het |
| Hapln4 |
G |
T |
8: 70,537,159 (GRCm39) |
Q31H |
probably damaging |
Het |
| Hic1 |
T |
A |
11: 75,056,316 (GRCm39) |
T858S |
possibly damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,092 (GRCm39) |
L101P |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,559,799 (GRCm39) |
Y485H |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,905,853 (GRCm39) |
|
probably null |
Het |
| Itln1 |
T |
C |
1: 171,359,117 (GRCm39) |
N62S |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,289 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,226,479 (GRCm39) |
|
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,829 (GRCm39) |
H123Q |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,342,101 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
G |
T |
2: 69,925,605 (GRCm39) |
G24V |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,549,441 (GRCm39) |
Q1250L |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,161,981 (GRCm39) |
M431K |
unknown |
Het |
| Nek9 |
T |
A |
12: 85,374,149 (GRCm39) |
|
probably benign |
Het |
| Neu1 |
C |
A |
17: 35,153,146 (GRCm39) |
N255K |
possibly damaging |
Het |
| Nf2 |
T |
A |
11: 4,744,914 (GRCm39) |
T75S |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,041,040 (GRCm39) |
D385V |
probably damaging |
Het |
| Olah |
T |
A |
2: 3,343,511 (GRCm39) |
N245I |
probably damaging |
Het |
| Or5p54 |
G |
T |
7: 107,554,077 (GRCm39) |
L76F |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,767,030 (GRCm39) |
T90S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,176,708 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
G |
7: 112,144,005 (GRCm39) |
M98V |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,834,255 (GRCm39) |
D177V |
possibly damaging |
Het |
| Paxip1 |
A |
G |
5: 27,970,230 (GRCm39) |
I587T |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,390 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,355,713 (GRCm39) |
D1074E |
probably damaging |
Het |
| Pef1 |
A |
T |
4: 130,021,241 (GRCm39) |
D265V |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,364,695 (GRCm39) |
G40D |
probably damaging |
Het |
| Psg18 |
A |
G |
7: 18,087,233 (GRCm39) |
Y142H |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,733,017 (GRCm39) |
M636L |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,572,559 (GRCm39) |
D51G |
probably benign |
Het |
| Rnf139 |
T |
A |
15: 58,771,755 (GRCm39) |
D593E |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,217,552 (GRCm39) |
N422S |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,069,914 (GRCm39) |
|
probably benign |
Het |
| Slc7a6os |
A |
G |
8: 106,937,199 (GRCm39) |
I87T |
probably damaging |
Het |
| Slc7a7 |
A |
G |
14: 54,615,381 (GRCm39) |
|
probably benign |
Het |
| Spc24 |
G |
T |
9: 21,668,609 (GRCm39) |
N129K |
possibly damaging |
Het |
| Strip2 |
C |
T |
6: 29,926,559 (GRCm39) |
T148I |
probably benign |
Het |
| Tmem150c |
A |
C |
5: 100,234,132 (GRCm39) |
|
probably null |
Het |
| Trav13-5 |
A |
G |
14: 54,033,205 (GRCm39) |
N38S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,641,364 (GRCm39) |
Y11801* |
probably null |
Het |
| Usp37 |
A |
T |
1: 74,493,223 (GRCm39) |
L688* |
probably null |
Het |
| Usp38 |
T |
C |
8: 81,722,469 (GRCm39) |
I351V |
probably benign |
Het |
| Vav2 |
T |
A |
2: 27,186,187 (GRCm39) |
M223L |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,968 (GRCm39) |
I557M |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,333,239 (GRCm39) |
M259K |
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,888,898 (GRCm39) |
S770L |
probably benign |
Het |
|
| Other mutations in Plekhh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Plekhh2
|
APN |
17 |
84,829,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00514:Plekhh2
|
APN |
17 |
84,903,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00773:Plekhh2
|
APN |
17 |
84,914,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00985:Plekhh2
|
APN |
17 |
84,871,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01116:Plekhh2
|
APN |
17 |
84,914,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01394:Plekhh2
|
APN |
17 |
84,864,858 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01419:Plekhh2
|
APN |
17 |
84,890,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL01932:Plekhh2
|
APN |
17 |
84,884,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02097:Plekhh2
|
APN |
17 |
84,906,608 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02157:Plekhh2
|
APN |
17 |
84,874,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL02163:Plekhh2
|
APN |
17 |
84,898,223 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02237:Plekhh2
|
APN |
17 |
84,883,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02322:Plekhh2
|
APN |
17 |
84,896,894 (GRCm39) |
nonsense |
probably null |
|
|
IGL02422:Plekhh2
|
APN |
17 |
84,871,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02483:Plekhh2
|
APN |
17 |
84,903,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02493:Plekhh2
|
APN |
17 |
84,914,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03007:Plekhh2
|
APN |
17 |
84,882,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0003:Plekhh2
|
UTSW |
17 |
84,864,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Plekhh2
|
UTSW |
17 |
84,893,861 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0099:Plekhh2
|
UTSW |
17 |
84,899,100 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Plekhh2
|
UTSW |
17 |
84,925,459 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1051:Plekhh2
|
UTSW |
17 |
84,829,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1084:Plekhh2
|
UTSW |
17 |
84,878,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1351:Plekhh2
|
UTSW |
17 |
84,884,574 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Plekhh2
|
UTSW |
17 |
84,918,203 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1510:Plekhh2
|
UTSW |
17 |
84,867,004 (GRCm39) |
splice site |
probably null |
|
|
R1699:Plekhh2
|
UTSW |
17 |
84,884,612 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Plekhh2
|
UTSW |
17 |
84,874,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1773:Plekhh2
|
UTSW |
17 |
84,906,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Plekhh2
|
UTSW |
17 |
84,906,561 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1823:Plekhh2
|
UTSW |
17 |
84,882,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Plekhh2
|
UTSW |
17 |
84,914,305 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2437:Plekhh2
|
UTSW |
17 |
84,893,907 (GRCm39) |
splice site |
probably null |
|
|
R2847:Plekhh2
|
UTSW |
17 |
84,905,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4227:Plekhh2
|
UTSW |
17 |
84,874,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4249:Plekhh2
|
UTSW |
17 |
84,893,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4347:Plekhh2
|
UTSW |
17 |
84,927,130 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4562:Plekhh2
|
UTSW |
17 |
84,873,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4649:Plekhh2
|
UTSW |
17 |
84,882,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Plekhh2
|
UTSW |
17 |
84,871,387 (GRCm39) |
missense |
probably benign |
|
|
R4743:Plekhh2
|
UTSW |
17 |
84,878,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Plekhh2
|
UTSW |
17 |
84,908,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5260:Plekhh2
|
UTSW |
17 |
84,884,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Plekhh2
|
UTSW |
17 |
84,864,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5409:Plekhh2
|
UTSW |
17 |
84,893,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5510:Plekhh2
|
UTSW |
17 |
84,874,275 (GRCm39) |
missense |
probably benign |
|
|
R5557:Plekhh2
|
UTSW |
17 |
84,867,580 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5684:Plekhh2
|
UTSW |
17 |
84,905,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Plekhh2
|
UTSW |
17 |
84,877,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Plekhh2
|
UTSW |
17 |
84,874,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5742:Plekhh2
|
UTSW |
17 |
84,905,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Plekhh2
|
UTSW |
17 |
84,879,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6218:Plekhh2
|
UTSW |
17 |
84,898,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6334:Plekhh2
|
UTSW |
17 |
84,874,294 (GRCm39) |
missense |
probably benign |
|
|
R6345:Plekhh2
|
UTSW |
17 |
84,883,215 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6617:Plekhh2
|
UTSW |
17 |
84,873,715 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6755:Plekhh2
|
UTSW |
17 |
84,899,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7171:Plekhh2
|
UTSW |
17 |
84,829,216 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7413:Plekhh2
|
UTSW |
17 |
84,873,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7585:Plekhh2
|
UTSW |
17 |
84,884,608 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7640:Plekhh2
|
UTSW |
17 |
84,918,204 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7733:Plekhh2
|
UTSW |
17 |
84,890,952 (GRCm39) |
nonsense |
probably null |
|
|
R7877:Plekhh2
|
UTSW |
17 |
84,882,434 (GRCm39) |
missense |
probably benign |
|
|
R8085:Plekhh2
|
UTSW |
17 |
84,905,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8206:Plekhh2
|
UTSW |
17 |
84,898,277 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8296:Plekhh2
|
UTSW |
17 |
84,908,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8344:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8438:Plekhh2
|
UTSW |
17 |
84,877,379 (GRCm39) |
missense |
probably benign |
|
|
R8487:Plekhh2
|
UTSW |
17 |
84,864,909 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8708:Plekhh2
|
UTSW |
17 |
84,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Plekhh2
|
UTSW |
17 |
84,829,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Plekhh2
|
UTSW |
17 |
84,878,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Plekhh2
|
UTSW |
17 |
84,906,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9047:Plekhh2
|
UTSW |
17 |
84,898,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Plekhh2
|
UTSW |
17 |
84,878,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9428:Plekhh2
|
UTSW |
17 |
84,873,841 (GRCm39) |
missense |
probably benign |
|
|
R9516:Plekhh2
|
UTSW |
17 |
84,918,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Plekhh2
|
UTSW |
17 |
84,899,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Plekhh2
|
UTSW |
17 |
84,854,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9641:Plekhh2
|
UTSW |
17 |
84,874,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9788:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATCCGTCACCAGAGTGCATC -3'
(R):5'- GCCTGAAACCCTCAGTACGTGAAG -3'
Sequencing Primer
(F):5'- GCCTCAAGTGTTAAATGTCCAG -3'
(R):5'- CCTCAGTACGTGAAGTATAACGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation