Incidental Mutation 'R5510:Plekhh2'
| ID |
431191 |
| 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 |
043071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5510 (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 84874275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 520
(C520Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047206
AA Change: C520Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: C520Y
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.1%
|
| Validation Efficiency |
99% (91/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
G |
3: 151,203,467 (GRCm39) |
I59R |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,593,363 (GRCm39) |
D4208V |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,347 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankib1 |
A |
G |
5: 3,779,693 (GRCm39) |
V392A |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,227,563 (GRCm39) |
|
probably null |
Het |
| Arsg |
A |
G |
11: 109,418,700 (GRCm39) |
E232G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,162,920 (GRCm39) |
F144S |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,203,498 (GRCm39) |
M111K |
probably damaging |
Het |
| Cav2 |
T |
C |
6: 17,287,012 (GRCm39) |
F152S |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,928,046 (GRCm39) |
T1194A |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
T |
C |
12: 100,911,290 (GRCm39) |
K848R |
probably damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,406,024 (GRCm39) |
W176R |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,415,100 (GRCm39) |
D136E |
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,813,344 (GRCm39) |
I201V |
possibly damaging |
Het |
| Defa24 |
T |
A |
8: 22,224,612 (GRCm39) |
D20E |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,095,039 (GRCm39) |
N566D |
probably damaging |
Het |
| Dido1 |
C |
A |
2: 180,326,966 (GRCm39) |
V386L |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dtx3 |
G |
A |
10: 127,028,807 (GRCm39) |
P141S |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,734,113 (GRCm39) |
L535P |
probably damaging |
Het |
| Gimap3 |
T |
A |
6: 48,742,183 (GRCm39) |
E249V |
possibly damaging |
Het |
| Git2 |
A |
T |
5: 114,881,835 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
T |
C |
10: 18,659,745 (GRCm39) |
T326A |
probably benign |
Het |
| Gsdmc2 |
T |
G |
15: 63,700,045 (GRCm39) |
E242D |
probably benign |
Het |
| Hdgfl2 |
G |
A |
17: 56,389,118 (GRCm39) |
G31S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,856,519 (GRCm39) |
I3956F |
probably damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,165,721 (GRCm39) |
R134C |
unknown |
Het |
| Igf1r |
G |
C |
7: 67,843,107 (GRCm39) |
R739S |
probably benign |
Het |
| Igkv4-51 |
T |
C |
6: 69,658,443 (GRCm39) |
E102G |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 92,969,414 (GRCm39) |
I1156L |
possibly damaging |
Het |
| Kti12 |
T |
C |
4: 108,705,821 (GRCm39) |
L245S |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,181,700 (GRCm39) |
S17P |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrps18b |
A |
G |
17: 36,225,215 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,056,828 (GRCm39) |
S85P |
probably benign |
Het |
| Msln |
T |
C |
17: 25,968,847 (GRCm39) |
Q487R |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,228,549 (GRCm39) |
N363S |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,152,942 (GRCm39) |
F192L |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,634,383 (GRCm39) |
D688G |
probably damaging |
Het |
| Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
| Or12d15 |
A |
T |
17: 37,694,192 (GRCm39) |
M245L |
probably benign |
Het |
| Or1j16 |
G |
A |
2: 36,530,975 (GRCm39) |
R308K |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,994,332 (GRCm39) |
A2T |
probably benign |
Het |
| Phf11a |
C |
A |
14: 59,516,834 (GRCm39) |
C208F |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,155,293 (GRCm39) |
M1550I |
probably damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,571,397 (GRCm39) |
Y140F |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,085,488 (GRCm39) |
S478T |
possibly damaging |
Het |
| Prkcz |
C |
A |
4: 155,357,393 (GRCm39) |
|
probably null |
Het |
| Prss55 |
T |
A |
14: 64,314,574 (GRCm39) |
M199L |
probably damaging |
Het |
| Qrich1 |
G |
A |
9: 108,433,659 (GRCm39) |
V651I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 13,842,005 (GRCm39) |
V47A |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,562,105 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,123,383 (GRCm39) |
Y389H |
probably damaging |
Het |
| Sec24b |
C |
A |
3: 129,834,544 (GRCm39) |
G82V |
probably damaging |
Het |
| Sema4a |
A |
G |
3: 88,357,293 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
A |
T |
11: 70,536,361 (GRCm39) |
W149R |
probably damaging |
Het |
| Slc2a7 |
T |
G |
4: 150,244,551 (GRCm39) |
S340A |
probably benign |
Het |
| Slc32a1 |
T |
A |
2: 158,456,716 (GRCm39) |
M457K |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,234 (GRCm39) |
|
probably null |
Het |
| Spint4 |
C |
T |
2: 164,542,812 (GRCm39) |
T135M |
probably damaging |
Het |
| Sult2a2 |
A |
C |
7: 13,472,228 (GRCm39) |
N142H |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,490,738 (GRCm39) |
G863D |
probably damaging |
Het |
| Tmem156 |
G |
A |
5: 65,232,917 (GRCm39) |
T151M |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,746,401 (GRCm39) |
Q459R |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,605,095 (GRCm39) |
C136Y |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,545 (GRCm39) |
V79M |
possibly damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,801,023 (GRCm39) |
D304E |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,399,779 (GRCm39) |
F123I |
probably damaging |
Het |
| Zfp672 |
A |
T |
11: 58,207,456 (GRCm39) |
C288* |
probably null |
Het |
| Zp1 |
T |
C |
19: 10,896,769 (GRCm39) |
Y90C |
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 |
|
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 |
|
|
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'- AGCTATGCTCCGATCGGATG -3'
(R):5'- GAGAGTTGTCAGAACAATGCTG -3'
Sequencing Primer
(F):5'- CTCCGATCGGATGTTTGGCAC -3'
(R):5'- GAGTTGTCAGAACAATGCTGAATTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation