Incidental Mutation 'R5260:Plekhh2'
| ID |
401410 |
| 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 |
042829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84884593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 769
(T769I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: T769I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: T769I
| 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 |
0.5917 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,461,003 (GRCm39) |
I14F |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,279 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,784,118 (GRCm39) |
V1579L |
probably benign |
Het |
| Adra2a |
T |
A |
19: 54,035,039 (GRCm39) |
C132S |
probably damaging |
Het |
| Aif1 |
T |
A |
17: 35,390,917 (GRCm39) |
|
probably null |
Het |
| Atf5 |
A |
T |
7: 44,464,510 (GRCm39) |
Y27* |
probably null |
Het |
| Atm |
A |
G |
9: 53,417,911 (GRCm39) |
S799P |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,235,210 (GRCm39) |
|
probably benign |
Het |
| Chaf1a |
C |
T |
17: 56,372,000 (GRCm39) |
H723Y |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,798,769 (GRCm39) |
W493R |
probably damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,565,230 (GRCm39) |
V198D |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,389,301 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,760,017 (GRCm39) |
G512S |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,919,393 (GRCm39) |
V1122D |
probably benign |
Het |
| Doc2b |
C |
A |
11: 75,676,989 (GRCm39) |
G128V |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,127,016 (GRCm39) |
V1378A |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,028,477 (GRCm39) |
S421T |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,829,324 (GRCm39) |
D672A |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,870,113 (GRCm39) |
H933Q |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,738,120 (GRCm39) |
N574K |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,069 (GRCm39) |
|
probably benign |
Het |
| Faxc |
A |
G |
4: 21,948,744 (GRCm39) |
Y152C |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,585 (GRCm39) |
Y354F |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,046 (GRCm39) |
I2526N |
possibly damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,701 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,503 (GRCm39) |
S917C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,062 (GRCm39) |
|
probably benign |
Het |
| Gusb |
A |
T |
5: 130,028,829 (GRCm39) |
Y220* |
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,411 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,471,612 (GRCm39) |
V4914A |
possibly damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,931 (GRCm39) |
C211F |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,211,058 (GRCm39) |
L802P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,602 (GRCm39) |
E624G |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,740,741 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
C |
A |
15: 101,456,823 (GRCm39) |
G186C |
possibly damaging |
Het |
| Lca5 |
G |
A |
9: 83,305,276 (GRCm39) |
R177C |
probably damaging |
Het |
| Mab21l4 |
A |
T |
1: 93,087,700 (GRCm39) |
V51E |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,907 (GRCm39) |
S318P |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,894,195 (GRCm39) |
I1207N |
probably damaging |
Het |
| Oog4 |
C |
T |
4: 143,164,424 (GRCm39) |
G369D |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,526 (GRCm39) |
D263G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,611,526 (GRCm39) |
Y287C |
probably damaging |
Het |
| Or52d13 |
A |
G |
7: 103,109,822 (GRCm39) |
F198L |
probably benign |
Het |
| Or5d35 |
A |
C |
2: 87,855,818 (GRCm39) |
I251L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,060,824 (GRCm39) |
T3060A |
probably damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,190,149 (GRCm39) |
S65C |
probably damaging |
Het |
| Psma3 |
T |
C |
12: 71,031,416 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,502,591 (GRCm39) |
|
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,039,998 (GRCm39) |
|
noncoding transcript |
Het |
| Rac1 |
C |
A |
5: 143,493,886 (GRCm39) |
V104L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,362,479 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sirt7 |
A |
C |
11: 120,511,347 (GRCm39) |
|
probably benign |
Het |
| Srl |
G |
A |
16: 4,300,759 (GRCm39) |
R333* |
probably null |
Het |
| Srprb |
A |
T |
9: 103,079,119 (GRCm39) |
L756Q |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,102 (GRCm39) |
S269P |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,882,630 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,767,646 (GRCm39) |
Y37H |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,890 (GRCm39) |
Y1899C |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,076,088 (GRCm39) |
T1681A |
probably benign |
Het |
| Timm44 |
G |
T |
8: 4,325,919 (GRCm39) |
|
probably null |
Het |
| Trp73 |
A |
G |
4: 154,147,059 (GRCm39) |
V322A |
possibly damaging |
Het |
| Tsr1 |
A |
C |
11: 74,796,781 (GRCm39) |
E611A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,746 (GRCm39) |
N2290S |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,276 (GRCm39) |
V4828A |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt9b |
C |
A |
11: 103,622,875 (GRCm39) |
S176I |
possibly damaging |
Het |
| Zfp329 |
A |
G |
7: 12,540,453 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,112,697 (GRCm39) |
V279D |
probably damaging |
Het |
| Zfp932 |
C |
T |
5: 110,157,501 (GRCm39) |
Q400* |
probably null |
Het |
| Zxdc |
T |
A |
6: 90,359,075 (GRCm39) |
L569Q |
probably damaging |
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 |
|
|
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 |
|
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'- TGAAGTGTGTCAGACCCACG -3'
(R):5'- CATGATGCATCGCACTCACC -3'
Sequencing Primer
(F):5'- TGTGTCAGACCCACGTGAGAAG -3'
(R):5'- CCAAAGCAGCAGCCTAGGATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation