Incidental Mutation 'R7640:Plekhh2'
| ID |
590218 |
| 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 |
045698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84918204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1271
(E1271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047206
AA Change: E1271G
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: E1271G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,181,905 (GRCm39) |
N20I |
probably damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,784,718 (GRCm39) |
S74P |
probably benign |
Het |
| Abcb6 |
A |
T |
1: 75,151,489 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
A |
10: 61,081,836 (GRCm39) |
A234S |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,843 (GRCm39) |
S167P |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,088,243 (GRCm39) |
I272V |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,403,572 (GRCm39) |
F219S |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,789,346 (GRCm39) |
|
probably null |
Het |
| Cep72 |
G |
A |
13: 74,206,607 (GRCm39) |
Q72* |
probably null |
Het |
| Clock |
G |
T |
5: 76,396,225 (GRCm39) |
L175M |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,898,974 (GRCm39) |
Y26F |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Cuta |
C |
T |
17: 27,157,396 (GRCm39) |
V135I |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,052 (GRCm39) |
M241K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,995 (GRCm39) |
N60S |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,279,730 (GRCm39) |
M432V |
probably benign |
Het |
| Dync2i2 |
T |
G |
2: 29,921,780 (GRCm39) |
D527A |
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,556 (GRCm39) |
G368C |
probably damaging |
Het |
| En2 |
A |
T |
5: 28,375,164 (GRCm39) |
K236* |
probably null |
Het |
| Fas |
A |
G |
19: 34,284,564 (GRCm39) |
T24A |
possibly damaging |
Het |
| Golga2 |
T |
C |
2: 32,196,251 (GRCm39) |
V930A |
probably benign |
Het |
| Gprin2 |
G |
T |
14: 33,917,710 (GRCm39) |
A20D |
probably benign |
Het |
| Ighv14-4 |
A |
T |
12: 114,140,064 (GRCm39) |
C115* |
probably null |
Het |
| Impdh2 |
T |
C |
9: 108,442,380 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,271,463 (GRCm39) |
V124L |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,131 (GRCm39) |
Y122* |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,012,550 (GRCm39) |
I708N |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,205,050 (GRCm39) |
M1V |
probably null |
Het |
| Lrit2 |
T |
C |
14: 36,794,081 (GRCm39) |
W382R |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,061,716 (GRCm39) |
V173E |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,682,342 (GRCm39) |
V493E |
probably benign |
Het |
| Mfap4 |
A |
G |
11: 61,377,913 (GRCm39) |
N118D |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,504,400 (GRCm39) |
S301G |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,300,266 (GRCm39) |
M94I |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,121 (GRCm39) |
S455T |
possibly damaging |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,007 (GRCm39) |
I243L |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,580,479 (GRCm39) |
P360T |
|
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nscme3l |
T |
A |
19: 5,553,035 (GRCm39) |
S249C |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,326,165 (GRCm39) |
Q7R |
possibly damaging |
Het |
| Oas1b |
T |
C |
5: 120,959,479 (GRCm39) |
L288P |
probably damaging |
Het |
| Or4a66 |
T |
A |
2: 88,531,230 (GRCm39) |
I148L |
probably benign |
Het |
| Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,436 (GRCm39) |
I94V |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,287 (GRCm39) |
I161M |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,744,849 (GRCm39) |
E869G |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,578 (GRCm39) |
L186P |
probably damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,117,956 (GRCm39) |
A8T |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,276 (GRCm39) |
V128A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,267,861 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
A |
4: 121,003,998 (GRCm39) |
M1771L |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,594,891 (GRCm39) |
P1372L |
possibly damaging |
Het |
| Rragd |
A |
T |
4: 32,983,527 (GRCm39) |
D22V |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,560,774 (GRCm39) |
S644R |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,130,490 (GRCm39) |
N840I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,093,703 (GRCm39) |
N717K |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,256,649 (GRCm39) |
D367N |
possibly damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,268,544 (GRCm39) |
V272M |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,690 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,070 (GRCm39) |
D747G |
probably damaging |
Het |
| Trim2 |
C |
A |
3: 84,098,213 (GRCm39) |
V372F |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,945,841 (GRCm39) |
T292A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,477,540 (GRCm39) |
I3385T |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,905 (GRCm39) |
K813R |
probably damaging |
Het |
| Zfp850 |
T |
C |
7: 27,688,634 (GRCm39) |
T525A |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,109 (GRCm39) |
I280T |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,725,121 (GRCm39) |
T697A |
possibly 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 |
|
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 |
|
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'- GTCGCACAATCATGACACATAGAG -3'
(R):5'- GCGACGGTCTAAATTTGGTC -3'
Sequencing Primer
(F):5'- CAGTCATGACACATAGGTTTG -3'
(R):5'- TACCAAGTTTGAGGCTAGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation