Incidental Mutation 'R6383:Phldb2'
ID |
515469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phldb2
|
Ensembl Gene |
ENSMUSG00000033149 |
Gene Name |
pleckstrin homology like domain, family B, member 2 |
Synonyms |
LL5b, C820004H04Rik, LL5beta |
MMRRC Submission |
044532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6383 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45569113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 1249
(D1249N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
|
AlphaFold |
Q8K1N2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036355
AA Change: D1196N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149 AA Change: D1196N
Domain | Start | End | E-Value | Type |
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
coiled coil region
|
580 |
692 |
N/A |
INTRINSIC |
coiled coil region
|
724 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
1027 |
1097 |
N/A |
INTRINSIC |
PH
|
1140 |
1244 |
6.45e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076333
AA Change: D1249N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149 AA Change: D1249N
Domain | Start | End | E-Value | Type |
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
coiled coil region
|
580 |
692 |
N/A |
INTRINSIC |
coiled coil region
|
724 |
800 |
N/A |
INTRINSIC |
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
coiled coil region
|
1080 |
1150 |
N/A |
INTRINSIC |
PH
|
1193 |
1297 |
6.45e-17 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131003
AA Change: D511N
|
SMART Domains |
Protein: ENSMUSP00000119718 Gene: ENSMUSG00000033149 AA Change: D511N
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
87 |
163 |
N/A |
INTRINSIC |
coiled coil region
|
342 |
412 |
N/A |
INTRINSIC |
PH
|
456 |
560 |
6.45e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,286,343 (GRCm39) |
M2497K |
probably benign |
Het |
Abtb2 |
C |
T |
2: 103,397,721 (GRCm39) |
T217I |
probably damaging |
Het |
Adam29 |
T |
A |
8: 56,324,543 (GRCm39) |
N637I |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,325,772 (GRCm39) |
E59V |
probably damaging |
Het |
Adh7 |
C |
T |
3: 137,933,778 (GRCm39) |
R312C |
probably benign |
Het |
Adprh |
A |
G |
16: 38,267,814 (GRCm39) |
I157T |
probably damaging |
Het |
Ap2b1 |
T |
C |
11: 83,237,651 (GRCm39) |
S572P |
probably damaging |
Het |
Asic1 |
T |
C |
15: 99,596,761 (GRCm39) |
L519P |
probably damaging |
Het |
Atp2a2 |
G |
C |
5: 122,639,712 (GRCm39) |
L13V |
probably benign |
Het |
Bst2 |
A |
T |
8: 71,989,932 (GRCm39) |
I47N |
possibly damaging |
Het |
Cacng6 |
G |
A |
7: 3,473,509 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,957,289 (GRCm39) |
E1849G |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,244,050 (GRCm39) |
T213S |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,039,127 (GRCm39) |
T406A |
probably benign |
Het |
Chmp4c |
G |
T |
3: 10,432,277 (GRCm39) |
K62N |
probably damaging |
Het |
Cldn15 |
A |
G |
5: 136,996,979 (GRCm39) |
T7A |
probably benign |
Het |
Cmpk2 |
T |
A |
12: 26,528,019 (GRCm39) |
M412K |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,453,705 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
C |
2: 13,432,646 (GRCm39) |
|
probably null |
Het |
Dop1b |
T |
C |
16: 93,579,136 (GRCm39) |
V1668A |
possibly damaging |
Het |
Erg28 |
T |
A |
12: 85,863,203 (GRCm39) |
Y77F |
probably damaging |
Het |
F830045P16Rik |
C |
T |
2: 129,378,358 (GRCm39) |
A9T |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
Gpr179 |
A |
G |
11: 97,227,973 (GRCm39) |
V1394A |
possibly damaging |
Het |
Grn |
T |
A |
11: 102,327,621 (GRCm39) |
|
probably benign |
Het |
H2-Q6 |
G |
A |
17: 35,647,359 (GRCm39) |
|
probably null |
Het |
Igsf3 |
A |
G |
3: 101,342,964 (GRCm39) |
T514A |
probably benign |
Het |
Il1r1 |
A |
G |
1: 40,352,495 (GRCm39) |
D558G |
possibly damaging |
Het |
Irx4 |
T |
C |
13: 73,415,832 (GRCm39) |
M207T |
possibly damaging |
Het |
Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
Kdm2b |
G |
A |
5: 123,072,841 (GRCm39) |
R340C |
probably damaging |
Het |
Lipo3 |
T |
A |
19: 33,533,831 (GRCm39) |
M334L |
probably benign |
Het |
Lmbrd1 |
C |
T |
1: 24,745,115 (GRCm39) |
L152F |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,666,452 (GRCm39) |
V1382I |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,468,470 (GRCm39) |
D1008N |
possibly damaging |
Het |
Mcf2l |
T |
C |
8: 12,929,912 (GRCm39) |
|
probably benign |
Het |
Mecom |
T |
G |
3: 30,051,875 (GRCm39) |
D180A |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,891,741 (GRCm39) |
D269G |
probably benign |
Het |
Myh7 |
A |
C |
14: 55,226,351 (GRCm39) |
S430A |
probably benign |
Het |
Myo1h |
A |
G |
5: 114,474,325 (GRCm39) |
I439V |
probably damaging |
Het |
Nat1 |
T |
C |
8: 67,944,134 (GRCm39) |
V170A |
possibly damaging |
Het |
Nlrp12 |
A |
G |
7: 3,282,673 (GRCm39) |
L742P |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,069,052 (GRCm39) |
T318A |
probably benign |
Het |
Or4d10 |
T |
A |
19: 12,051,727 (GRCm39) |
I90F |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,531 (GRCm39) |
N296I |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
Or8g33 |
G |
T |
9: 39,337,530 (GRCm39) |
T279N |
probably damaging |
Het |
Or8g35 |
A |
T |
9: 39,381,926 (GRCm39) |
L32Q |
probably damaging |
Het |
Otop3 |
A |
G |
11: 115,235,898 (GRCm39) |
E529G |
probably damaging |
Het |
Parp6 |
T |
C |
9: 59,531,222 (GRCm39) |
Y35H |
probably damaging |
Het |
Pcdhb4 |
A |
C |
18: 37,441,074 (GRCm39) |
D128A |
probably damaging |
Het |
Pramel30 |
A |
T |
4: 144,059,717 (GRCm39) |
*476L |
probably null |
Het |
Ptpn12 |
T |
A |
5: 21,192,466 (GRCm39) |
K765* |
probably null |
Het |
Ptprb |
T |
A |
10: 116,182,912 (GRCm39) |
Y1529* |
probably null |
Het |
Ptprc |
A |
T |
1: 138,006,189 (GRCm39) |
Y798N |
possibly damaging |
Het |
Sdk2 |
G |
A |
11: 113,723,091 (GRCm39) |
T1300I |
probably damaging |
Het |
Slc28a2b |
T |
C |
2: 122,355,288 (GRCm39) |
I555T |
probably benign |
Het |
Sptbn2 |
G |
A |
19: 4,782,524 (GRCm39) |
V487I |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,876,750 (GRCm39) |
|
probably benign |
Het |
Srpk1 |
A |
G |
17: 28,809,036 (GRCm39) |
S648P |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,496,888 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
Top3a |
A |
T |
11: 60,640,285 (GRCm39) |
I446N |
probably benign |
Het |
Trpv1 |
T |
C |
11: 73,136,862 (GRCm39) |
S482P |
probably damaging |
Het |
Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
Vmn2r15 |
A |
C |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
Vmn2r60 |
A |
G |
7: 41,765,895 (GRCm39) |
M1V |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,314,869 (GRCm39) |
V239A |
probably damaging |
Het |
Vwce |
T |
A |
19: 10,636,956 (GRCm39) |
C679* |
probably null |
Het |
Zfp385b |
C |
T |
2: 77,246,185 (GRCm39) |
A281T |
probably benign |
Het |
Zfp398 |
T |
G |
6: 47,843,529 (GRCm39) |
L395W |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,293,321 (GRCm39) |
|
probably null |
Het |
Zfp606 |
A |
G |
7: 12,226,871 (GRCm39) |
S331G |
probably benign |
Het |
Zfp882 |
A |
G |
8: 72,668,484 (GRCm39) |
H437R |
probably damaging |
Het |
|
Other mutations in Phldb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Phldb2
|
APN |
16 |
45,592,617 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00485:Phldb2
|
APN |
16 |
45,577,551 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL00544:Phldb2
|
APN |
16 |
45,645,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00547:Phldb2
|
APN |
16 |
45,645,898 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00835:Phldb2
|
APN |
16 |
45,571,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00987:Phldb2
|
APN |
16 |
45,583,465 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01102:Phldb2
|
APN |
16 |
45,645,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01530:Phldb2
|
APN |
16 |
45,623,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01549:Phldb2
|
APN |
16 |
45,594,681 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01712:Phldb2
|
APN |
16 |
45,571,792 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01755:Phldb2
|
APN |
16 |
45,645,945 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01823:Phldb2
|
APN |
16 |
45,645,507 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02353:Phldb2
|
APN |
16 |
45,569,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02360:Phldb2
|
APN |
16 |
45,569,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Phldb2
|
APN |
16 |
45,621,953 (GRCm39) |
missense |
probably damaging |
0.99 |
R0139:Phldb2
|
UTSW |
16 |
45,591,029 (GRCm39) |
splice site |
probably benign |
|
R0312:Phldb2
|
UTSW |
16 |
45,609,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Phldb2
|
UTSW |
16 |
45,601,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0535:Phldb2
|
UTSW |
16 |
45,577,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Phldb2
|
UTSW |
16 |
45,646,357 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1444:Phldb2
|
UTSW |
16 |
45,577,616 (GRCm39) |
splice site |
probably benign |
|
R1487:Phldb2
|
UTSW |
16 |
45,609,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R1501:Phldb2
|
UTSW |
16 |
45,598,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1605:Phldb2
|
UTSW |
16 |
45,591,142 (GRCm39) |
splice site |
probably benign |
|
R1716:Phldb2
|
UTSW |
16 |
45,595,413 (GRCm39) |
missense |
probably benign |
0.01 |
R1732:Phldb2
|
UTSW |
16 |
45,577,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Phldb2
|
UTSW |
16 |
45,621,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1824:Phldb2
|
UTSW |
16 |
45,646,374 (GRCm39) |
missense |
probably benign |
0.14 |
R2001:Phldb2
|
UTSW |
16 |
45,594,558 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2066:Phldb2
|
UTSW |
16 |
45,591,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Phldb2
|
UTSW |
16 |
45,583,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R2448:Phldb2
|
UTSW |
16 |
45,645,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R2932:Phldb2
|
UTSW |
16 |
45,569,148 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3076:Phldb2
|
UTSW |
16 |
45,645,373 (GRCm39) |
missense |
probably benign |
0.00 |
R3078:Phldb2
|
UTSW |
16 |
45,645,373 (GRCm39) |
missense |
probably benign |
0.00 |
R3779:Phldb2
|
UTSW |
16 |
45,569,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R3914:Phldb2
|
UTSW |
16 |
45,577,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R4536:Phldb2
|
UTSW |
16 |
45,591,044 (GRCm39) |
missense |
probably benign |
0.04 |
R4568:Phldb2
|
UTSW |
16 |
45,598,081 (GRCm39) |
nonsense |
probably null |
|
R4798:Phldb2
|
UTSW |
16 |
45,646,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Phldb2
|
UTSW |
16 |
45,623,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R4906:Phldb2
|
UTSW |
16 |
45,571,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4984:Phldb2
|
UTSW |
16 |
45,645,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5078:Phldb2
|
UTSW |
16 |
45,598,105 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5137:Phldb2
|
UTSW |
16 |
45,628,621 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5237:Phldb2
|
UTSW |
16 |
45,568,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R5410:Phldb2
|
UTSW |
16 |
45,645,975 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5825:Phldb2
|
UTSW |
16 |
45,583,460 (GRCm39) |
missense |
probably benign |
0.11 |
R5874:Phldb2
|
UTSW |
16 |
45,621,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5907:Phldb2
|
UTSW |
16 |
45,645,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Phldb2
|
UTSW |
16 |
45,594,609 (GRCm39) |
missense |
probably benign |
|
R6354:Phldb2
|
UTSW |
16 |
45,645,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R6355:Phldb2
|
UTSW |
16 |
45,645,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R6463:Phldb2
|
UTSW |
16 |
45,595,356 (GRCm39) |
missense |
probably benign |
0.37 |
R6513:Phldb2
|
UTSW |
16 |
45,568,240 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6593:Phldb2
|
UTSW |
16 |
45,645,790 (GRCm39) |
nonsense |
probably null |
|
R6756:Phldb2
|
UTSW |
16 |
45,628,683 (GRCm39) |
missense |
probably benign |
0.02 |
R6810:Phldb2
|
UTSW |
16 |
45,569,088 (GRCm39) |
critical splice donor site |
probably null |
|
R6897:Phldb2
|
UTSW |
16 |
45,598,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Phldb2
|
UTSW |
16 |
45,571,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R7142:Phldb2
|
UTSW |
16 |
45,577,539 (GRCm39) |
nonsense |
probably null |
|
R7149:Phldb2
|
UTSW |
16 |
45,571,895 (GRCm39) |
nonsense |
probably null |
|
R7249:Phldb2
|
UTSW |
16 |
45,621,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R7300:Phldb2
|
UTSW |
16 |
45,645,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Phldb2
|
UTSW |
16 |
45,578,572 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7515:Phldb2
|
UTSW |
16 |
45,594,603 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7840:Phldb2
|
UTSW |
16 |
45,571,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7988:Phldb2
|
UTSW |
16 |
45,645,934 (GRCm39) |
missense |
probably benign |
0.03 |
R8159:Phldb2
|
UTSW |
16 |
45,680,747 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8353:Phldb2
|
UTSW |
16 |
45,645,385 (GRCm39) |
missense |
probably benign |
0.00 |
R8453:Phldb2
|
UTSW |
16 |
45,645,385 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Phldb2
|
UTSW |
16 |
45,592,496 (GRCm39) |
critical splice donor site |
probably null |
|
R9058:Phldb2
|
UTSW |
16 |
45,592,604 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9106:Phldb2
|
UTSW |
16 |
45,680,757 (GRCm39) |
missense |
probably benign |
0.05 |
R9278:Phldb2
|
UTSW |
16 |
45,646,308 (GRCm39) |
missense |
probably damaging |
0.99 |
R9324:Phldb2
|
UTSW |
16 |
45,595,437 (GRCm39) |
missense |
probably damaging |
0.99 |
R9563:Phldb2
|
UTSW |
16 |
45,645,247 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9626:Phldb2
|
UTSW |
16 |
45,592,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9712:Phldb2
|
UTSW |
16 |
45,595,340 (GRCm39) |
missense |
probably benign |
0.27 |
R9718:Phldb2
|
UTSW |
16 |
45,601,756 (GRCm39) |
missense |
possibly damaging |
0.67 |
RF008:Phldb2
|
UTSW |
16 |
45,583,337 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Phldb2
|
UTSW |
16 |
45,773,871 (GRCm39) |
unclassified |
probably benign |
|
Z1176:Phldb2
|
UTSW |
16 |
45,646,190 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Phldb2
|
UTSW |
16 |
45,646,189 (GRCm39) |
missense |
probably benign |
0.43 |
Z1190:Phldb2
|
UTSW |
16 |
45,645,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTAAGTCGCTTACAACTCC -3'
(R):5'- TTAGCCCTAGGTCATCTGAGG -3'
Sequencing Primer
(F):5'- CTAGCATTTATCCAGGCAGAGCTG -3'
(R):5'- CTGTCTTTGCAGACAAGC -3'
|
Posted On |
2018-05-04 |