Incidental Mutation 'R1459:Plekhh2'
ID |
162009 |
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 |
039514-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R1459 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 84918203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 1271
(E1271*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
AlphaFold |
Q8C115 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047206
AA Change: E1271*
|
SMART Domains |
Protein: ENSMUSP00000039628 Gene: ENSMUSG00000040852 AA Change: E1271*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
96% (87/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
C |
T |
4: 62,450,578 (GRCm39) |
R51W |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,752,920 (GRCm39) |
L557Q |
probably damaging |
Het |
Abcb4 |
T |
C |
5: 8,968,662 (GRCm39) |
F334L |
possibly damaging |
Het |
Adamts14 |
T |
A |
10: 61,034,583 (GRCm39) |
T1102S |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,344,102 (GRCm39) |
Y1719H |
probably damaging |
Het |
Adcyap1 |
T |
C |
17: 93,507,550 (GRCm39) |
|
probably null |
Het |
Ankrd13c |
T |
A |
3: 157,677,947 (GRCm39) |
L219Q |
probably damaging |
Het |
Ano3 |
C |
A |
2: 110,711,174 (GRCm39) |
A97S |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,898,022 (GRCm39) |
N245S |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,047 (GRCm39) |
T1510A |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,937 (GRCm39) |
D3473G |
possibly damaging |
Het |
Arfgap3 |
G |
A |
15: 83,191,138 (GRCm39) |
T12I |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,557,418 (GRCm39) |
V466A |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,749,239 (GRCm39) |
E119K |
probably damaging |
Het |
Capn5 |
G |
T |
7: 97,781,049 (GRCm39) |
R243S |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,679,510 (GRCm39) |
I63V |
probably benign |
Het |
Cd86 |
T |
A |
16: 36,449,350 (GRCm39) |
T16S |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,262,734 (GRCm39) |
|
probably benign |
Het |
Cep20 |
G |
A |
16: 14,122,380 (GRCm39) |
T128I |
possibly damaging |
Het |
Cep95 |
C |
T |
11: 106,708,781 (GRCm39) |
S26L |
probably damaging |
Het |
Cldn19 |
C |
T |
4: 119,112,810 (GRCm39) |
A14V |
probably damaging |
Het |
Cluap1 |
T |
A |
16: 3,755,453 (GRCm39) |
M356K |
probably damaging |
Het |
Coq7 |
C |
T |
7: 118,109,260 (GRCm39) |
G263S |
unknown |
Het |
Ctnnd2 |
A |
C |
15: 30,847,445 (GRCm39) |
T679P |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,820,750 (GRCm39) |
D528G |
possibly damaging |
Het |
Dvl1 |
T |
A |
4: 155,938,476 (GRCm39) |
N133K |
probably damaging |
Het |
Efcab7 |
T |
G |
4: 99,769,744 (GRCm39) |
H550Q |
probably null |
Het |
Fastkd5 |
C |
T |
2: 130,456,717 (GRCm39) |
M624I |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,073 (GRCm39) |
V12A |
probably benign |
Het |
Gabarapl1 |
T |
A |
6: 129,515,635 (GRCm39) |
M91K |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,552,902 (GRCm39) |
N154S |
probably damaging |
Het |
Gm21814 |
T |
A |
6: 149,483,650 (GRCm39) |
|
noncoding transcript |
Het |
Gnl3 |
G |
A |
14: 30,739,803 (GRCm39) |
R12C |
probably damaging |
Het |
Golga2 |
T |
G |
2: 32,187,807 (GRCm39) |
|
probably null |
Het |
Grk3 |
T |
A |
5: 113,062,878 (GRCm39) |
R656S |
probably benign |
Het |
Gsap |
T |
A |
5: 21,412,236 (GRCm39) |
|
probably benign |
Het |
H60c |
T |
C |
10: 3,210,240 (GRCm39) |
Q103R |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,755 (GRCm39) |
S252T |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,869,937 (GRCm39) |
T40S |
probably benign |
Het |
Krtap27-1 |
T |
C |
16: 88,468,302 (GRCm39) |
N81D |
probably benign |
Het |
Lilrb4a |
T |
A |
10: 51,367,683 (GRCm39) |
L75Q |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,290,821 (GRCm39) |
E3546D |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,313,738 (GRCm39) |
D2331V |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,009,893 (GRCm39) |
V9E |
probably damaging |
Het |
Matr3 |
T |
A |
18: 35,717,709 (GRCm39) |
D302E |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,897,979 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
C |
10: 93,704,811 (GRCm39) |
D272G |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,987,428 (GRCm39) |
D337G |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,219,433 (GRCm39) |
V693A |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,985,771 (GRCm39) |
E116G |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,555 (GRCm39) |
M642L |
probably benign |
Het |
Noxa1 |
G |
T |
2: 24,982,558 (GRCm39) |
Q86K |
probably benign |
Het |
Nrap |
T |
C |
19: 56,372,562 (GRCm39) |
T48A |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,520,494 (GRCm39) |
H308Q |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,056,699 (GRCm39) |
L711P |
probably damaging |
Het |
Osbpl6 |
A |
G |
2: 76,385,409 (GRCm39) |
N281S |
probably benign |
Het |
Pcnp |
C |
T |
16: 55,844,703 (GRCm39) |
E66K |
possibly damaging |
Het |
Phf11 |
T |
A |
14: 59,482,227 (GRCm39) |
E175D |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,108,431 (GRCm39) |
L1053S |
probably damaging |
Het |
Ppp2r2b |
T |
A |
18: 42,871,055 (GRCm39) |
Y82F |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,278,796 (GRCm39) |
D430G |
probably damaging |
Het |
Prl7d1 |
C |
T |
13: 27,893,240 (GRCm39) |
D224N |
possibly damaging |
Het |
Ptpdc1 |
A |
T |
13: 48,740,173 (GRCm39) |
N419K |
possibly damaging |
Het |
Serinc5 |
T |
A |
13: 92,797,695 (GRCm39) |
|
probably null |
Het |
Sipa1 |
A |
G |
19: 5,701,692 (GRCm39) |
L981P |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,489 (GRCm39) |
C383* |
probably null |
Het |
Slc19a1 |
C |
G |
10: 76,878,369 (GRCm39) |
Y301* |
probably null |
Het |
Slc22a14 |
A |
T |
9: 119,052,827 (GRCm39) |
V14E |
possibly damaging |
Het |
Slpi |
C |
A |
2: 164,196,837 (GRCm39) |
C95F |
probably damaging |
Het |
Smurf2 |
G |
A |
11: 106,743,333 (GRCm39) |
H225Y |
possibly damaging |
Het |
Son |
T |
C |
16: 91,452,230 (GRCm39) |
S326P |
possibly damaging |
Het |
Sptb |
T |
A |
12: 76,658,657 (GRCm39) |
K1262M |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,696,714 (GRCm39) |
|
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,687,031 (GRCm39) |
H747Q |
probably damaging |
Het |
Tcn2 |
C |
A |
11: 3,877,516 (GRCm39) |
R44L |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,689,006 (GRCm39) |
R2194C |
probably damaging |
Het |
Tnks2 |
T |
A |
19: 36,822,931 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,650,188 (GRCm39) |
I120N |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,201,232 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,205,478 (GRCm39) |
V662A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,048 (GRCm39) |
S3827P |
probably benign |
Het |
Vasn |
T |
A |
16: 4,466,473 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
A |
T |
7: 85,055,908 (GRCm39) |
C743* |
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,687,002 (GRCm39) |
H794Q |
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 |
|
R0331:Plekhh2
|
UTSW |
17 |
84,893,794 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
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'- GAACTGCTTGTCACAGAATCCCTCC -3'
(R):5'- TTATCCTCAGACTGAACCCAGGGC -3'
Sequencing Primer
(F):5'- GAATCCCTCCTAAGTTAGATTTCAAG -3'
(R):5'- atcaggagtttaaggtcattttcag -3'
|
Posted On |
2014-03-14 |