Incidental Mutation 'R8847:Plekhh2'
ID |
674789 |
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 |
068735-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R8847 (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 84878479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 578
(D578G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
AlphaFold |
Q8C115 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047206
AA Change: D578G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000039628 Gene: ENSMUSG00000040852 AA Change: D578G
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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,206,746 (GRCm39) |
R4T |
probably benign |
Het |
Alk |
T |
A |
17: 72,256,820 (GRCm39) |
I680F |
probably benign |
Het |
Best3 |
A |
G |
10: 116,824,572 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,872,082 (GRCm39) |
D59G |
|
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Cic |
G |
A |
7: 24,970,631 (GRCm39) |
V121M |
probably damaging |
Het |
Clasp1 |
C |
G |
1: 118,506,705 (GRCm39) |
P1280R |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,741,472 (GRCm39) |
N2482K |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,902,891 (GRCm39) |
M2116T |
probably benign |
Het |
Ddn |
T |
C |
15: 98,704,794 (GRCm39) |
E166G |
possibly damaging |
Het |
Dennd6a |
C |
T |
14: 26,327,086 (GRCm39) |
T249I |
probably benign |
Het |
Diaph1 |
A |
T |
18: 37,987,590 (GRCm39) |
D1055E |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,057,360 (GRCm39) |
G1547* |
probably null |
Het |
Dvl1 |
C |
T |
4: 155,942,611 (GRCm39) |
R626C |
possibly damaging |
Het |
Fer1l6 |
A |
C |
15: 58,414,012 (GRCm39) |
K13Q |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
Gm6408 |
G |
T |
5: 146,420,602 (GRCm39) |
V161L |
probably benign |
Het |
Gpatch8 |
A |
T |
11: 102,372,010 (GRCm39) |
N509K |
unknown |
Het |
Hycc2 |
G |
T |
1: 58,595,713 (GRCm39) |
P55Q |
probably damaging |
Het |
Ints13 |
T |
C |
6: 146,457,631 (GRCm39) |
T416A |
probably benign |
Het |
Iqcf6 |
A |
T |
9: 106,504,650 (GRCm39) |
M105L |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,922,334 (GRCm39) |
R1461L |
probably benign |
Het |
Map3k8 |
A |
T |
18: 4,333,889 (GRCm39) |
L401Q |
|
Het |
Miga2 |
G |
T |
2: 30,273,990 (GRCm39) |
R542L |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,454,209 (GRCm39) |
V96E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,613,595 (GRCm39) |
S28G |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,575,929 (GRCm39) |
E351G |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,803,962 (GRCm39) |
|
probably benign |
Het |
Npc1 |
A |
G |
18: 12,323,987 (GRCm39) |
L1275P |
probably damaging |
Het |
Nphp4 |
C |
T |
4: 152,590,863 (GRCm39) |
R287C |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,686,821 (GRCm39) |
D271G |
probably damaging |
Het |
Or13a20 |
G |
C |
7: 140,232,326 (GRCm39) |
A145P |
possibly damaging |
Het |
Or1j13 |
G |
A |
2: 36,369,483 (GRCm39) |
R220* |
probably null |
Het |
Or1p1c |
C |
T |
11: 74,160,443 (GRCm39) |
T76I |
probably damaging |
Het |
Parn |
A |
T |
16: 13,446,270 (GRCm39) |
L343* |
probably null |
Het |
Pax5 |
T |
A |
4: 44,691,865 (GRCm39) |
D127V |
probably benign |
Het |
Peak1 |
C |
A |
9: 56,114,427 (GRCm39) |
D1505Y |
probably damaging |
Het |
Perm1 |
C |
T |
4: 156,302,068 (GRCm39) |
T204I |
probably benign |
Het |
Pid1 |
A |
T |
1: 84,093,694 (GRCm39) |
S65T |
unknown |
Het |
Pkn2 |
A |
G |
3: 142,526,401 (GRCm39) |
V392A |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,562,747 (GRCm39) |
L572Q |
probably damaging |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,458,402 (GRCm39) |
V266A |
possibly damaging |
Het |
Sirpb1c |
C |
T |
3: 15,886,584 (GRCm39) |
W264* |
probably null |
Het |
Slc35g3 |
A |
T |
11: 69,651,399 (GRCm39) |
Y195* |
probably null |
Het |
Slk |
T |
A |
19: 47,607,632 (GRCm39) |
H289Q |
|
Het |
Spef2 |
T |
C |
15: 9,668,913 (GRCm39) |
S758G |
probably benign |
Het |
Spon2 |
C |
T |
5: 33,371,841 (GRCm39) |
A322T |
probably benign |
Het |
Spred2 |
T |
C |
11: 19,951,064 (GRCm39) |
L87P |
probably benign |
Het |
Stk10 |
A |
G |
11: 32,539,427 (GRCm39) |
D269G |
|
Het |
Tex48 |
T |
A |
4: 63,530,772 (GRCm39) |
|
probably benign |
Het |
Themis2 |
T |
A |
4: 132,513,509 (GRCm39) |
H239L |
probably damaging |
Het |
Tle4 |
T |
A |
19: 14,493,737 (GRCm39) |
R199* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,600,182 (GRCm39) |
H723Y |
possibly damaging |
Het |
Trdj2 |
T |
A |
14: 54,374,237 (GRCm39) |
S1T |
|
Het |
Vdac1 |
T |
G |
11: 52,267,230 (GRCm39) |
S44A |
|
Het |
Vill |
C |
T |
9: 118,897,514 (GRCm39) |
T647I |
probably damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,817 (GRCm39) |
C166R |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,528,986 (GRCm39) |
N372I |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,816,217 (GRCm39) |
M713L |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,950,010 (GRCm39) |
V810A |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,590,212 (GRCm39) |
L568Q |
probably damaging |
Het |
Wdr7 |
T |
C |
18: 63,872,293 (GRCm39) |
V409A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,061,672 (GRCm39) |
N524K |
unknown |
Het |
Zfp958 |
A |
C |
8: 4,678,434 (GRCm39) |
H153P |
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 |
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'- GACAAGGGCATTTTATCTGTTTTAAGC -3'
(R):5'- ATAATCACCTTCTCCGGGCC -3'
Sequencing Primer
(F):5'- GGATATGCTGCCTCTAATGCCAG -3'
(R):5'- CTCTACAAAGAGGGGGATGGATG -3'
|
Posted On |
2021-07-15 |