Incidental Mutation 'R9047:Plekhh2'
| ID |
688154 |
| 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 |
068873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84898190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 944
(S944P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: S944P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: S944P
| 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: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,848 (GRCm39) |
S156T |
probably damaging |
Het |
| 4930522L14Rik |
A |
G |
5: 109,885,420 (GRCm39) |
L146P |
|
Het |
| Adra1a |
T |
A |
14: 66,875,634 (GRCm39) |
M203K |
probably damaging |
Het |
| Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
| Akt3 |
G |
T |
1: 176,886,955 (GRCm39) |
T298K |
probably damaging |
Het |
| Aldh4a1 |
G |
T |
4: 139,350,511 (GRCm39) |
|
probably benign |
Het |
| Aplf |
T |
C |
6: 87,640,779 (GRCm39) |
T77A |
possibly damaging |
Het |
| Arid4b |
T |
A |
13: 14,355,815 (GRCm39) |
W618R |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,585,465 (GRCm39) |
P130Q |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,585,471 (GRCm39) |
K132R |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,878,483 (GRCm39) |
M353T |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,861,038 (GRCm39) |
D375G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,201,338 (GRCm39) |
A656T |
possibly damaging |
Het |
| Casz1 |
C |
T |
4: 149,023,497 (GRCm39) |
P801S |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,368,758 (GRCm39) |
|
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,607,504 (GRCm39) |
T286A |
probably benign |
Het |
| Cox6b2 |
A |
G |
7: 4,755,086 (GRCm39) |
F63L |
probably benign |
Het |
| Cramp1 |
A |
C |
17: 25,198,603 (GRCm39) |
V773G |
possibly damaging |
Het |
| Cul7 |
A |
G |
17: 46,965,448 (GRCm39) |
E542G |
probably benign |
Het |
| Cyp2c55 |
T |
C |
19: 39,019,790 (GRCm39) |
Y243H |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,962,925 (GRCm39) |
D1797Y |
possibly damaging |
Het |
| Dpep2 |
C |
A |
8: 106,715,944 (GRCm39) |
A298S |
|
Het |
| Dvl3 |
G |
A |
16: 20,342,826 (GRCm39) |
|
probably null |
Het |
| Dynlt2a3 |
A |
G |
17: 15,187,942 (GRCm39) |
Y111H |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,674,172 (GRCm39) |
D376G |
possibly damaging |
Het |
| Ffar4 |
T |
C |
19: 38,102,232 (GRCm39) |
I289T |
possibly damaging |
Het |
| Gm5565 |
T |
C |
5: 146,094,849 (GRCm39) |
Y299C |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,087,033 (GRCm39) |
I187T |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 100,994,788 (GRCm39) |
M39L |
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,364,664 (GRCm39) |
L240P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,586,517 (GRCm39) |
I145V |
probably benign |
Het |
| H2-Q4 |
A |
T |
17: 35,598,969 (GRCm39) |
T80S |
possibly damaging |
Het |
| Hnf1a |
T |
A |
5: 115,088,882 (GRCm39) |
T545S |
probably benign |
Het |
| Kif5b |
A |
C |
18: 6,208,261 (GRCm39) |
F946V |
probably benign |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,167 (GRCm39) |
C79Y |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,882,697 (GRCm39) |
V2622A |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,391,375 (GRCm39) |
Q1350L |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 80,955,498 (GRCm39) |
V294I |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,489,050 (GRCm39) |
N411S |
probably benign |
Het |
| Mtus1 |
G |
A |
8: 41,536,760 (GRCm39) |
H319Y |
possibly damaging |
Het |
| Ncdn |
T |
C |
4: 126,644,621 (GRCm39) |
D67G |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,401 (GRCm39) |
I213V |
possibly damaging |
Het |
| Nyap2 |
G |
A |
1: 81,275,803 (GRCm39) |
R649H |
possibly damaging |
Het |
| Or14a258 |
A |
G |
7: 86,035,248 (GRCm39) |
S207P |
probably benign |
Het |
| Or4a67 |
C |
A |
2: 88,598,299 (GRCm39) |
R120L |
probably damaging |
Het |
| Or5d20-ps1 |
T |
G |
2: 87,931,416 (GRCm39) |
D305A |
unknown |
Het |
| Pi4kb |
T |
A |
3: 94,900,428 (GRCm39) |
L354Q |
probably damaging |
Het |
| Podn |
C |
T |
4: 107,878,743 (GRCm39) |
V375M |
probably damaging |
Het |
| Pramel12 |
C |
A |
4: 143,145,673 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Psmb2 |
T |
A |
4: 126,599,895 (GRCm39) |
H110Q |
probably benign |
Het |
| Rasip1 |
A |
G |
7: 45,282,066 (GRCm39) |
E523G |
possibly damaging |
Het |
| Ripor1 |
T |
G |
8: 106,342,783 (GRCm39) |
C219G |
probably damaging |
Het |
| Rps6ka2 |
G |
C |
17: 7,567,678 (GRCm39) |
V714L |
probably damaging |
Het |
| Sass6 |
G |
T |
3: 116,407,647 (GRCm39) |
L254F |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,624,270 (GRCm39) |
G525E |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,046,131 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,827 (GRCm39) |
A787S |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,512,919 (GRCm39) |
N871I |
unknown |
Het |
| Slc48a1 |
T |
G |
15: 97,687,833 (GRCm39) |
D62E |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,936,398 (GRCm39) |
M157I |
|
Het |
| Slurp2 |
T |
C |
15: 74,614,961 (GRCm39) |
D60G |
probably benign |
Het |
| Sparcl1 |
G |
T |
5: 104,240,979 (GRCm39) |
N148K |
possibly damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,856,128 (GRCm39) |
R589* |
probably null |
Het |
| Spsb2 |
T |
A |
6: 124,786,976 (GRCm39) |
N236K |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,679,308 (GRCm39) |
|
probably benign |
Het |
| Ssc4d |
A |
T |
5: 135,990,030 (GRCm39) |
C41S |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,286,375 (GRCm39) |
D760E |
probably benign |
Het |
| Tesmin |
G |
T |
19: 3,439,431 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
C |
16: 89,601,776 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,778,946 (GRCm39) |
L1219S |
probably damaging |
Het |
| Tram1 |
T |
G |
1: 13,639,830 (GRCm39) |
I306L |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,191,500 (GRCm39) |
D503A |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,031,596 (GRCm39) |
H1044R |
|
Het |
| Ubac2 |
T |
C |
14: 122,145,626 (GRCm39) |
F95L |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,326,296 (GRCm39) |
M194L |
probably benign |
Het |
| Yju2b |
C |
T |
8: 84,990,527 (GRCm39) |
R35Q |
probably damaging |
Het |
| Zdhhc1 |
G |
T |
8: 106,205,533 (GRCm39) |
H90Q |
probably damaging |
Het |
| Zfp169 |
C |
T |
13: 48,652,292 (GRCm39) |
V42I |
probably damaging |
Het |
| Zfp81 |
A |
G |
17: 33,553,387 (GRCm39) |
C476R |
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 |
|
|
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 |
|
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'- TCCTGAGGGTGACAGAAAAC -3'
(R):5'- GTGGAACAGTGCTCGTTTCTC -3'
Sequencing Primer
(F):5'- TGACAGAAAACAGCCTTGCTAG -3'
(R):5'- GGAACAGTGCTCGTTTCTCTCAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation