Incidental Mutation 'R1605:Phldb2'
ID |
176439 |
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 |
039642-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1605 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 45591142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
AlphaFold |
Q8K1N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036355
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149
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 benign
Transcript: ENSMUST00000076333
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149
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 |
probably benign
Transcript: ENSMUST00000131003
|
SMART Domains |
Protein: ENSMUSP00000119718 Gene: ENSMUSG00000033149
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133111
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134802
|
SMART Domains |
Protein: ENSMUSP00000123284 Gene: ENSMUSG00000033149
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
low complexity region
|
471 |
492 |
N/A |
INTRINSIC |
coiled coil region
|
625 |
737 |
N/A |
INTRINSIC |
coiled coil region
|
769 |
845 |
N/A |
INTRINSIC |
coiled coil region
|
1072 |
1131 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151300
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730409E04Rik |
A |
G |
4: 126,506,104 (GRCm39) |
K211E |
probably damaging |
Het |
Acot7 |
A |
G |
4: 152,291,285 (GRCm39) |
I84V |
possibly damaging |
Het |
Ankrd44 |
A |
G |
1: 54,867,781 (GRCm39) |
V34A |
probably benign |
Het |
Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
Atr |
T |
A |
9: 95,818,516 (GRCm39) |
I2163K |
probably damaging |
Het |
Azgp1 |
A |
T |
5: 137,983,426 (GRCm39) |
R34* |
probably null |
Het |
Ccdc152 |
T |
G |
15: 3,327,603 (GRCm39) |
K58T |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,827,837 (GRCm39) |
Q912L |
probably benign |
Het |
Cdc42ep5 |
T |
A |
7: 4,154,395 (GRCm39) |
H131L |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,844,675 (GRCm39) |
E1595K |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,290 (GRCm39) |
G41D |
probably damaging |
Het |
Cyp2b23 |
C |
T |
7: 26,385,843 (GRCm39) |
V5I |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,085,915 (GRCm39) |
V22A |
possibly damaging |
Het |
Ddi1 |
T |
C |
9: 6,266,012 (GRCm39) |
Y119C |
probably benign |
Het |
Dysf |
T |
C |
6: 84,083,923 (GRCm39) |
L785P |
probably damaging |
Het |
Eqtn |
T |
A |
4: 94,816,587 (GRCm39) |
T69S |
possibly damaging |
Het |
F11 |
T |
A |
8: 45,694,617 (GRCm39) |
K581N |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,782,290 (GRCm39) |
P172S |
probably damaging |
Het |
Gm7579 |
G |
T |
7: 141,765,603 (GRCm39) |
C3F |
unknown |
Het |
Grin2a |
A |
G |
16: 9,481,194 (GRCm39) |
V501A |
possibly damaging |
Het |
Grk4 |
G |
A |
5: 34,831,901 (GRCm39) |
D57N |
probably damaging |
Het |
Gsdma |
A |
T |
11: 98,557,319 (GRCm39) |
D86V |
probably damaging |
Het |
Gsx1 |
A |
G |
5: 147,126,738 (GRCm39) |
E187G |
probably damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,799,537 (GRCm39) |
D176G |
probably damaging |
Het |
Inpp5k |
T |
A |
11: 75,524,307 (GRCm39) |
F75L |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,326,620 (GRCm39) |
V114A |
possibly damaging |
Het |
Izumo3 |
A |
T |
4: 92,032,977 (GRCm39) |
C130S |
probably damaging |
Het |
Mei4 |
G |
A |
9: 81,809,639 (GRCm39) |
E241K |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,961,120 (GRCm39) |
V39A |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,974,572 (GRCm39) |
R1184H |
probably benign |
Het |
Msh3 |
T |
C |
13: 92,436,783 (GRCm39) |
Q509R |
probably null |
Het |
Myh8 |
T |
C |
11: 67,192,497 (GRCm39) |
W1459R |
probably damaging |
Het |
Mypop |
T |
A |
7: 18,734,918 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
C |
A |
4: 107,225,293 (GRCm39) |
T3K |
probably damaging |
Het |
Nf1 |
A |
C |
11: 79,331,749 (GRCm39) |
M695L |
probably benign |
Het |
Nup50l |
A |
G |
6: 96,141,793 (GRCm39) |
M417T |
probably benign |
Het |
Nutm2 |
C |
A |
13: 50,623,955 (GRCm39) |
D217E |
possibly damaging |
Het |
Or52a20 |
T |
C |
7: 103,365,858 (GRCm39) |
I19T |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,994 (GRCm39) |
T109A |
probably benign |
Het |
Pde6c |
C |
A |
19: 38,129,940 (GRCm39) |
D283E |
probably damaging |
Het |
Pigt |
G |
C |
2: 164,349,419 (GRCm39) |
R574P |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,796,500 (GRCm39) |
I2354T |
possibly damaging |
Het |
Prdm15 |
T |
C |
16: 97,640,506 (GRCm39) |
E27G |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,597,709 (GRCm39) |
I1140V |
probably benign |
Het |
Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,519,071 (GRCm39) |
S258P |
probably damaging |
Het |
Rnf17 |
G |
T |
14: 56,730,822 (GRCm39) |
G1209C |
probably damaging |
Het |
S1pr4 |
C |
T |
10: 81,335,225 (GRCm39) |
|
probably null |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Serpinb1b |
T |
A |
13: 33,277,646 (GRCm39) |
V293E |
possibly damaging |
Het |
Serpinb9b |
T |
C |
13: 33,222,112 (GRCm39) |
|
probably null |
Het |
Sez6l |
A |
C |
5: 112,622,915 (GRCm39) |
I212S |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
Spag9 |
G |
A |
11: 93,939,365 (GRCm39) |
R98H |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,511 (GRCm39) |
H556Q |
possibly damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,272 (GRCm39) |
L128P |
probably benign |
Het |
Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
Stxbp5l |
A |
G |
16: 37,028,473 (GRCm39) |
V530A |
probably benign |
Het |
Tatdn1 |
A |
G |
15: 58,793,039 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,430,206 (GRCm39) |
S466P |
probably benign |
Het |
Tmem199 |
A |
T |
11: 78,399,152 (GRCm39) |
M175K |
possibly damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,764 (GRCm39) |
E54G |
probably benign |
Het |
Usp37 |
G |
T |
1: 74,532,163 (GRCm39) |
Q77K |
possibly damaging |
Het |
Vezf1 |
A |
G |
11: 87,967,125 (GRCm39) |
I301V |
possibly damaging |
Het |
Vmn1r34 |
T |
G |
6: 66,613,932 (GRCm39) |
M269L |
probably benign |
Het |
Wdr93 |
C |
A |
7: 79,421,257 (GRCm39) |
|
probably null |
Het |
Wnk2 |
T |
C |
13: 49,214,370 (GRCm39) |
D644G |
probably damaging |
Het |
Zc3h13 |
C |
T |
14: 75,574,923 (GRCm39) |
R1591* |
probably null |
Het |
Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
Zfp180 |
T |
A |
7: 23,804,049 (GRCm39) |
V156D |
probably benign |
Het |
Zfp646 |
G |
T |
7: 127,479,359 (GRCm39) |
|
probably null |
Het |
Zscan12 |
C |
A |
13: 21,550,813 (GRCm39) |
T144K |
probably benign |
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 |
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 |
R6383:Phldb2
|
UTSW |
16 |
45,569,113 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATAAGGGGACTGGTGCTACCTTGG -3'
(R):5'- TGAGATTGCAGCAGAGCTTCTTGG -3'
Sequencing Primer
(F):5'- GTGCTACCTTGGTACAAGAATG -3'
(R):5'- CTTGGGAGAGATGGTGAGTAATTAGC -3'
|
Posted On |
2014-04-24 |