Incidental Mutation 'R4737:Plekhh2'
ID |
359377 |
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 |
042024-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R4737 (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 84871387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 215
(S215L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
AlphaFold |
Q8C115 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047206
AA Change: S215L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039628 Gene: ENSMUSG00000040852 AA Change: S215L
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 |
0.0725 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (94/94) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
A |
G |
1: 181,055,384 (GRCm39) |
|
noncoding transcript |
Het |
Acp2 |
A |
T |
2: 91,041,068 (GRCm39) |
R419W |
probably benign |
Het |
Actr5 |
A |
G |
2: 158,469,991 (GRCm39) |
N207S |
probably damaging |
Het |
Afap1 |
G |
A |
5: 36,119,126 (GRCm39) |
V254M |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,259,836 (GRCm39) |
M544K |
possibly damaging |
Het |
Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
Bnip3l-ps |
G |
A |
12: 18,266,773 (GRCm39) |
|
noncoding transcript |
Het |
Carf |
A |
G |
1: 60,148,477 (GRCm39) |
T58A |
probably benign |
Het |
Carns1 |
A |
G |
19: 4,220,927 (GRCm39) |
|
probably benign |
Het |
Ccp110 |
T |
A |
7: 118,323,771 (GRCm39) |
I670K |
possibly damaging |
Het |
Cftr |
T |
A |
6: 18,299,882 (GRCm39) |
D1218E |
probably benign |
Het |
Chrna9 |
A |
T |
5: 66,125,214 (GRCm39) |
T52S |
probably damaging |
Het |
Chst9 |
T |
C |
18: 15,585,834 (GRCm39) |
Y243C |
probably damaging |
Het |
Ciao3 |
A |
T |
17: 26,000,283 (GRCm39) |
H322L |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,057,936 (GRCm39) |
T162A |
probably damaging |
Het |
Clk2 |
A |
T |
3: 89,076,016 (GRCm39) |
H62L |
probably benign |
Het |
Cntnap2 |
A |
T |
6: 45,037,251 (GRCm39) |
R10W |
possibly damaging |
Het |
Cpt1b |
C |
T |
15: 89,305,609 (GRCm39) |
D369N |
probably benign |
Het |
Crhr2 |
G |
T |
6: 55,068,290 (GRCm39) |
H423Q |
probably damaging |
Het |
D8Ertd738e |
T |
A |
8: 84,976,150 (GRCm39) |
I33F |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,866,278 (GRCm39) |
|
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,871,219 (GRCm39) |
I480V |
probably benign |
Het |
Dpp9 |
A |
C |
17: 56,505,970 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
A |
T |
7: 35,402,926 (GRCm39) |
M562K |
probably damaging |
Het |
Dus3l |
T |
C |
17: 57,074,868 (GRCm39) |
L330P |
probably damaging |
Het |
Efcab7 |
C |
T |
4: 99,719,805 (GRCm39) |
Q96* |
probably null |
Het |
Egfr |
T |
C |
11: 16,819,231 (GRCm39) |
F254L |
probably damaging |
Het |
Eml5 |
C |
T |
12: 98,765,111 (GRCm39) |
V1566M |
probably damaging |
Het |
Entpd7 |
T |
A |
19: 43,679,634 (GRCm39) |
Y62* |
probably null |
Het |
Erbb4 |
T |
C |
1: 68,383,059 (GRCm39) |
M313V |
probably damaging |
Het |
Gm5528 |
A |
G |
1: 72,043,711 (GRCm39) |
|
noncoding transcript |
Het |
H2-M9 |
G |
T |
17: 36,951,631 (GRCm39) |
Y281* |
probably null |
Het |
Hmcn1 |
T |
G |
1: 150,565,346 (GRCm39) |
K2260N |
possibly damaging |
Het |
Hnf4a |
A |
G |
2: 163,406,139 (GRCm39) |
I259V |
probably benign |
Het |
Insm1 |
A |
T |
2: 146,064,822 (GRCm39) |
T213S |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,005,544 (GRCm39) |
D488G |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,382,976 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
G |
C |
6: 39,129,773 (GRCm39) |
L468V |
possibly damaging |
Het |
Lck |
G |
A |
4: 129,449,777 (GRCm39) |
T229I |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,678,553 (GRCm39) |
L265P |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,479,034 (GRCm39) |
K229* |
probably null |
Het |
Lrrk1 |
C |
T |
7: 65,956,621 (GRCm39) |
S418N |
probably benign |
Het |
Mark2 |
A |
G |
19: 7,258,597 (GRCm39) |
V126A |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,540 (GRCm39) |
C101R |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,403,734 (GRCm39) |
K85M |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,957,720 (GRCm39) |
R15G |
probably benign |
Het |
Muc6 |
T |
G |
7: 141,226,426 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,131,655 (GRCm39) |
S514G |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,649,498 (GRCm39) |
E11G |
probably benign |
Het |
Ogdh |
T |
A |
11: 6,247,044 (GRCm39) |
F23I |
probably benign |
Het |
Or10g9 |
A |
T |
9: 39,911,718 (GRCm39) |
D268E |
probably damaging |
Het |
Or12e9 |
T |
C |
2: 87,202,665 (GRCm39) |
I263T |
probably damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,830 (GRCm39) |
V198I |
probably benign |
Het |
Or4b1b |
A |
G |
2: 90,112,725 (GRCm39) |
S65P |
probably damaging |
Het |
Or4c100 |
C |
T |
2: 88,356,569 (GRCm39) |
S214F |
probably damaging |
Het |
Or52r1c |
C |
T |
7: 102,735,121 (GRCm39) |
A127V |
probably damaging |
Het |
Or9k2 |
T |
A |
10: 129,998,707 (GRCm39) |
T163S |
probably benign |
Het |
Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
Patl2 |
T |
A |
2: 121,955,787 (GRCm39) |
T250S |
probably damaging |
Het |
Pcdhac2 |
C |
T |
18: 37,278,952 (GRCm39) |
T644I |
possibly damaging |
Het |
Pi4kb |
C |
T |
3: 94,911,649 (GRCm39) |
T690I |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,097,271 (GRCm39) |
Y776C |
probably benign |
Het |
Psmd2 |
T |
G |
16: 20,478,565 (GRCm39) |
|
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,675,103 (GRCm39) |
E183G |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,115,327 (GRCm39) |
|
probably null |
Het |
Scel |
T |
A |
14: 103,809,473 (GRCm39) |
M271K |
possibly damaging |
Het |
Senp3 |
A |
T |
11: 69,569,655 (GRCm39) |
C310* |
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,958,050 (GRCm39) |
T97A |
possibly damaging |
Het |
Srsf11 |
A |
T |
3: 157,732,369 (GRCm39) |
Y82* |
probably null |
Het |
Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,039,474 (GRCm39) |
E145G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,540,588 (GRCm39) |
N1471S |
probably benign |
Het |
Tnn |
T |
G |
1: 159,973,659 (GRCm39) |
D236A |
probably damaging |
Het |
Trmt2a |
C |
T |
16: 18,069,150 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubxn10 |
G |
A |
4: 138,463,259 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
G |
A |
9: 120,902,938 (GRCm39) |
Q1180* |
probably null |
Het |
Usp43 |
T |
A |
11: 67,746,331 (GRCm39) |
K1120N |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,149 (GRCm39) |
L244Q |
possibly damaging |
Het |
Vmn1r32 |
T |
C |
6: 66,530,629 (GRCm39) |
H49R |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,317,384 (GRCm39) |
D118G |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,627,943 (GRCm39) |
I468V |
probably benign |
Het |
Zbtb7c |
G |
T |
18: 76,279,225 (GRCm39) |
R561L |
probably benign |
Het |
Zfp956 |
T |
C |
6: 47,939,476 (GRCm39) |
S175P |
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 |
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 |
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'- GTTCTGTGCTCTATATCAGGCC -3'
(R):5'- ACCAGCAGGCAAACTTTAGAGG -3'
Sequencing Primer
(F):5'- AAGAGCAAATTCTGTCTTTCTGG -3'
(R):5'- CAGGCAAACTTTAGAGGGAGACTG -3'
|
Posted On |
2015-11-11 |