Incidental Mutation 'R0312:Phldb2'
ID |
25316 |
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 |
038522-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0312 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 45609410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 732
(T732N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
[ENSMUST00000142697]
|
AlphaFold |
Q8K1N2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036355
AA Change: T687N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149 AA Change: T687N
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: T687N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149 AA Change: T687N
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: T50N
|
SMART Domains |
Protein: ENSMUSP00000119718 Gene: ENSMUSG00000033149 AA Change: T50N
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 damaging
Transcript: ENSMUST00000134802
AA Change: T732N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123284 Gene: ENSMUSG00000033149 AA Change: T732N
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: ENSMUST00000142697
|
SMART Domains |
Protein: ENSMUSP00000121981 Gene: ENSMUSG00000033149
Domain | Start | End | E-Value | Type |
SCOP:d1k4wa_
|
25 |
116 |
5e-3 |
SMART |
|
Meta Mutation Damage Score |
0.1111 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.3%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
T |
12: 118,836,572 (GRCm39) |
A1113D |
probably damaging |
Het |
Adcy1 |
G |
T |
11: 7,099,538 (GRCm39) |
A673S |
probably benign |
Het |
Apob |
T |
A |
12: 8,059,034 (GRCm39) |
H2505Q |
probably benign |
Het |
Arhgap12 |
A |
G |
18: 6,061,982 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
C |
T |
3: 97,116,727 (GRCm39) |
E656K |
probably benign |
Het |
Bnc1 |
C |
T |
7: 81,627,072 (GRCm39) |
R106H |
possibly damaging |
Het |
Ccdc54 |
T |
C |
16: 50,411,165 (GRCm39) |
K34E |
possibly damaging |
Het |
Cfap65 |
G |
A |
1: 74,943,226 (GRCm39) |
R1600W |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,034,760 (GRCm39) |
N2470K |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,129,054 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
Dhx40 |
G |
A |
11: 86,662,775 (GRCm39) |
T639I |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,609,085 (GRCm39) |
T227A |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,873,433 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
T |
A |
7: 119,644,882 (GRCm39) |
K1133M |
probably damaging |
Het |
Dock5 |
G |
C |
14: 68,033,440 (GRCm39) |
F976L |
possibly damaging |
Het |
Evc |
C |
T |
5: 37,485,885 (GRCm39) |
C97Y |
possibly damaging |
Het |
Fbxw7 |
T |
C |
3: 84,874,876 (GRCm39) |
|
probably benign |
Het |
Fggy |
A |
C |
4: 95,732,422 (GRCm39) |
D112A |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,574,813 (GRCm39) |
Y435H |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,230,231 (GRCm39) |
H1642L |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gda |
T |
A |
19: 21,394,369 (GRCm39) |
I237F |
probably damaging |
Het |
Glt1d1 |
A |
G |
5: 127,768,134 (GRCm39) |
N247S |
probably damaging |
Het |
Gm7647 |
T |
C |
5: 95,110,839 (GRCm39) |
S7P |
probably benign |
Het |
Gpr31b |
C |
T |
17: 13,270,498 (GRCm39) |
V224I |
probably damaging |
Het |
Hlf |
G |
A |
11: 90,278,701 (GRCm39) |
P121L |
possibly damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ism1 |
G |
T |
2: 139,520,592 (GRCm39) |
M1I |
probably null |
Het |
Kansl1l |
T |
C |
1: 66,817,265 (GRCm39) |
N365S |
probably null |
Het |
Lama1 |
T |
C |
17: 68,082,846 (GRCm39) |
L1368P |
possibly damaging |
Het |
Lima1 |
A |
G |
15: 99,678,968 (GRCm39) |
V491A |
possibly damaging |
Het |
Lrch1 |
G |
T |
14: 75,185,034 (GRCm39) |
H23N |
possibly damaging |
Het |
Lrp1b |
A |
G |
2: 41,172,183 (GRCm39) |
V1488A |
probably damaging |
Het |
Lrp8 |
T |
C |
4: 107,664,052 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
A |
G |
8: 4,285,733 (GRCm39) |
S653G |
probably benign |
Het |
Mnat1 |
A |
G |
12: 73,228,558 (GRCm39) |
T141A |
possibly damaging |
Het |
Mpeg1 |
C |
A |
19: 12,439,767 (GRCm39) |
N408K |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,147,390 (GRCm39) |
E51G |
possibly damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naa35 |
A |
G |
13: 59,757,395 (GRCm39) |
T257A |
probably benign |
Het |
Obox5 |
T |
A |
7: 15,491,485 (GRCm39) |
H8Q |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,372 (GRCm39) |
I105L |
probably benign |
Het |
Or51q1c |
T |
C |
7: 103,653,232 (GRCm39) |
V250A |
probably damaging |
Het |
Or5h26 |
A |
T |
16: 58,988,202 (GRCm39) |
F101L |
probably benign |
Het |
Phyhip |
G |
T |
14: 70,704,410 (GRCm39) |
A210S |
possibly damaging |
Het |
Pik3r4 |
A |
G |
9: 105,563,409 (GRCm39) |
D1262G |
probably damaging |
Het |
Pip |
G |
A |
6: 41,826,798 (GRCm39) |
E48K |
possibly damaging |
Het |
Plk4 |
C |
T |
3: 40,767,982 (GRCm39) |
L74F |
probably damaging |
Het |
Prdm14 |
G |
A |
1: 13,189,031 (GRCm39) |
R438W |
probably damaging |
Het |
Rab19 |
G |
A |
6: 39,361,023 (GRCm39) |
R57H |
probably benign |
Het |
Rtl1 |
G |
T |
12: 109,556,661 (GRCm39) |
P1726Q |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
T |
4: 112,666,297 (GRCm39) |
V1176D |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,067,948 (GRCm39) |
I1012V |
probably damaging |
Het |
Slc1a3 |
C |
T |
15: 8,665,721 (GRCm39) |
M509I |
probably benign |
Het |
Spata18 |
G |
A |
5: 73,824,224 (GRCm39) |
G35E |
probably benign |
Het |
Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,432,335 (GRCm39) |
P801L |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,398,524 (GRCm39) |
G304D |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,805,539 (GRCm39) |
|
probably benign |
Het |
Xrcc6 |
C |
A |
15: 81,911,423 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- ACAATCTTGGTGGCTCCAGAAACAG -3'
(R):5'- AAAGGACTCTTGGCCCAGAAAGC -3'
Sequencing Primer
(F):5'- TTATGAACTAGAGACCGTCCTAAC -3'
(R):5'- ATATGATGTAGCTGGCACCTC -3'
|
Posted On |
2013-04-16 |