Incidental Mutation 'R1732:Phldb2'
ID |
199427 |
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 |
039764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1732 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45577529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1132
(E1132G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
AlphaFold |
Q8K1N2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036355
AA Change: E1079G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149 AA Change: E1079G
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: E1132G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149 AA Change: E1132G
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: E394G
|
SMART Domains |
Protein: ENSMUSP00000119718 Gene: ENSMUSG00000033149 AA Change: E394G
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 |
possibly damaging
Transcript: ENSMUST00000134802
AA Change: E1124G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123284 Gene: ENSMUSG00000033149 AA Change: E1124G
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 |
|
Meta Mutation Damage Score |
0.0864 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
A |
12: 71,265,995 (GRCm39) |
Q1445K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,328,148 (GRCm39) |
M303L |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,652,096 (GRCm39) |
V52A |
probably damaging |
Het |
Adam7 |
T |
C |
14: 68,735,899 (GRCm39) |
T781A |
probably benign |
Het |
Agpat4 |
T |
C |
17: 12,435,615 (GRCm39) |
V293A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,479 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
A |
3: 101,492,115 (GRCm39) |
G587V |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,527,992 (GRCm39) |
F172L |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,723,705 (GRCm39) |
D710E |
possibly damaging |
Het |
Cep126 |
A |
T |
9: 8,099,762 (GRCm39) |
I924N |
probably benign |
Het |
Chek2 |
G |
T |
5: 111,019,968 (GRCm39) |
A517S |
probably benign |
Het |
Cmbl |
A |
T |
15: 31,588,378 (GRCm39) |
E165D |
probably damaging |
Het |
Cntnap3 |
A |
T |
13: 64,888,626 (GRCm39) |
|
probably null |
Het |
Col1a1 |
A |
T |
11: 94,835,241 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,600,653 (GRCm39) |
M624V |
possibly damaging |
Het |
Cwc15 |
A |
G |
9: 14,421,543 (GRCm39) |
D203G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,458,295 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,302,455 (GRCm39) |
I84F |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,409,267 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
C |
1: 178,084,217 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,026,511 (GRCm39) |
L1873* |
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,036,055 (GRCm39) |
H2359Q |
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,370,440 (GRCm39) |
N880S |
possibly damaging |
Het |
F10 |
T |
C |
8: 13,100,764 (GRCm39) |
L214P |
probably damaging |
Het |
F5 |
G |
A |
1: 164,001,719 (GRCm39) |
V141M |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,065,734 (GRCm39) |
S1022T |
possibly damaging |
Het |
Fam13b |
A |
T |
18: 34,620,187 (GRCm39) |
N232K |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,648,157 (GRCm39) |
E1259G |
probably benign |
Het |
Gak |
A |
T |
5: 108,724,448 (GRCm39) |
D1087E |
probably benign |
Het |
Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,962 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
A |
G |
1: 136,187,866 (GRCm39) |
V249A |
probably benign |
Het |
Hcn3 |
T |
C |
3: 89,055,426 (GRCm39) |
H607R |
probably damaging |
Het |
Hdac4 |
T |
A |
1: 91,875,257 (GRCm39) |
T905S |
probably benign |
Het |
Itgad |
T |
C |
7: 127,804,279 (GRCm39) |
S86P |
probably benign |
Het |
Itgb4 |
G |
T |
11: 115,879,744 (GRCm39) |
R632L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,779,979 (GRCm39) |
T284S |
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,888 (GRCm39) |
M339K |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mybpc2 |
C |
A |
7: 44,163,099 (GRCm39) |
V484L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,454,221 (GRCm39) |
V473E |
probably benign |
Het |
Nwd1 |
C |
G |
8: 73,393,463 (GRCm39) |
S242C |
possibly damaging |
Het |
Or55b10 |
C |
A |
7: 102,143,247 (GRCm39) |
C245F |
probably damaging |
Het |
Or7e174 |
A |
G |
9: 20,012,796 (GRCm39) |
H247R |
probably damaging |
Het |
Otof |
A |
T |
5: 30,543,815 (GRCm39) |
W535R |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,712,084 (GRCm39) |
E1046G |
possibly damaging |
Het |
Phtf2 |
A |
T |
5: 20,994,625 (GRCm39) |
|
probably null |
Het |
Plce1 |
G |
T |
19: 38,705,282 (GRCm39) |
A896S |
possibly damaging |
Het |
Prim1 |
T |
C |
10: 127,851,193 (GRCm39) |
Y26H |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,780 (GRCm39) |
T712S |
unknown |
Het |
Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,740,021 (GRCm39) |
E409G |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,795,467 (GRCm39) |
N274S |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
Rec114 |
A |
G |
9: 58,560,389 (GRCm39) |
S206P |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,381 (GRCm39) |
Y531N |
probably damaging |
Het |
Slc28a2 |
T |
C |
2: 122,280,239 (GRCm39) |
|
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,561,233 (GRCm39) |
H566R |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,373,291 (GRCm39) |
T290A |
probably benign |
Het |
Smarcc1 |
T |
A |
9: 110,014,888 (GRCm39) |
|
probably benign |
Het |
Srp54b |
T |
A |
12: 55,299,544 (GRCm39) |
|
probably null |
Het |
Stambpl1 |
C |
G |
19: 34,204,121 (GRCm39) |
N70K |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,761,118 (GRCm39) |
K710E |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,763,669 (GRCm39) |
D795V |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,976,277 (GRCm39) |
Y149C |
probably damaging |
Het |
Tmem151a |
C |
A |
19: 5,132,895 (GRCm39) |
A104S |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,538,100 (GRCm39) |
|
probably null |
Het |
Tpgs1 |
T |
A |
10: 79,511,428 (GRCm39) |
L190Q |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,851,428 (GRCm39) |
H527Q |
possibly damaging |
Het |
Tspan2 |
A |
G |
3: 102,676,193 (GRCm39) |
I197V |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,525,506 (GRCm39) |
I76V |
probably benign |
Het |
Vmn1r32 |
A |
T |
6: 66,530,285 (GRCm39) |
S164T |
probably benign |
Het |
Zfp607a |
G |
T |
7: 27,577,884 (GRCm39) |
C318F |
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 |
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'- GGTAGTTCTACGGCAGTTTCCTCG -3'
(R):5'- CCAGAGAACAGCTTCATGGCTAGG -3'
Sequencing Primer
(F):5'- GGCAGTTTCCTCGAAGTTCTAAAG -3'
(R):5'- CATGGCTAGGGCTGTATGAC -3'
|
Posted On |
2014-05-23 |