Incidental Mutation 'R5237:Phldb2'
| ID |
398583 |
| 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 |
042808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5237 (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 45568249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1219
(I1219V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000066983]
[ENSMUST00000076333]
[ENSMUST00000128348]
|
| AlphaFold |
Q8K1N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036355
AA Change: I1219V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: I1219V
| 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: ENSMUST00000066983
|
| SMART Domains |
Protein: ENSMUSP00000065282
Gene: ENSMUSG00000033157
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
65 |
209 |
6.9e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
67 |
226 |
7.3e-9 |
PFAM |
|
Pfam:Abhydrolase_5
|
68 |
271 |
2.4e-15 |
PFAM |
|
Pfam:Abhydrolase_6
|
69 |
280 |
4.4e-9 |
PFAM |
|
Pfam:Peptidase_S9
|
131 |
281 |
8.9e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076333
AA Change: I1272V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: I1272V
| 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: ENSMUST00000128348
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131003
AA Change: I534V
|
| SMART Domains |
Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: I534V
| 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: ENSMUST00000143731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155741
|
| Meta Mutation Damage Score |
0.1251 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,850 (GRCm39) |
W369* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,923,236 (GRCm39) |
M190K |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,303,906 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
A |
T |
11: 7,099,553 (GRCm39) |
I678L |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,817 (GRCm39) |
S27P |
probably benign |
Het |
| Ankrd24 |
C |
A |
10: 81,478,379 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,296,844 (GRCm39) |
V383L |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,150,802 (GRCm39) |
V1105A |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,730 (GRCm39) |
S684T |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,550,444 (GRCm39) |
L360P |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,544 (GRCm39) |
Q428L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,295,068 (GRCm39) |
|
probably benign |
Het |
| Cpeb2 |
G |
A |
5: 43,443,099 (GRCm39) |
C930Y |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,393 (GRCm39) |
D103G |
probably benign |
Het |
| Cyb5a |
T |
G |
18: 84,889,689 (GRCm39) |
F39L |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,207 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,486,690 (GRCm39) |
|
probably null |
Het |
| Efcab9 |
A |
T |
11: 32,472,832 (GRCm39) |
I205K |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,107,819 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
C |
A |
15: 100,591,274 (GRCm39) |
C610F |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Gcc1 |
A |
T |
6: 28,420,651 (GRCm39) |
I222K |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,631 (GRCm39) |
H146L |
probably benign |
Het |
| H2-T23 |
C |
T |
17: 36,341,258 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,304,728 (GRCm39) |
I3124N |
probably benign |
Het |
| Hsf2 |
C |
A |
10: 57,382,317 (GRCm39) |
D364E |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,738,016 (GRCm39) |
T250A |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,197,487 (GRCm39) |
E372G |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,478,169 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,601,609 (GRCm39) |
Y524C |
probably damaging |
Het |
| Mfsd6l |
C |
A |
11: 68,448,096 (GRCm39) |
Q316K |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,757,840 (GRCm39) |
T417A |
possibly damaging |
Het |
| Mymk |
T |
C |
2: 26,952,200 (GRCm39) |
*181W |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,087,505 (GRCm39) |
T1093A |
probably benign |
Het |
| Or10al4 |
T |
A |
17: 38,037,268 (GRCm39) |
C118S |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,732 (GRCm39) |
V206A |
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,513 (GRCm39) |
K327* |
probably null |
Het |
| Or8b54 |
C |
T |
9: 38,687,252 (GRCm39) |
R234W |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pex26 |
T |
A |
6: 121,162,806 (GRCm39) |
L119Q |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,095,251 (GRCm39) |
V64A |
probably benign |
Het |
| Plekho1 |
A |
G |
3: 95,902,937 (GRCm39) |
V24A |
probably damaging |
Het |
| Pon2 |
A |
C |
6: 5,265,455 (GRCm39) |
S311A |
probably benign |
Het |
| Pramel31 |
G |
T |
4: 144,089,041 (GRCm39) |
E120* |
probably null |
Het |
| Rsrc2 |
T |
C |
5: 123,877,645 (GRCm39) |
|
probably benign |
Het |
| Selenov |
T |
C |
7: 27,987,572 (GRCm39) |
D295G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,595,075 (GRCm39) |
Y48F |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,190 (GRCm39) |
D1159V |
possibly damaging |
Het |
| Setx |
C |
T |
2: 29,036,995 (GRCm39) |
T1160I |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,459,971 (GRCm39) |
|
probably null |
Het |
| Skint11 |
A |
G |
4: 114,102,042 (GRCm39) |
K352E |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,919,118 (GRCm39) |
V914E |
possibly damaging |
Het |
| Srgap1 |
A |
G |
10: 121,643,788 (GRCm39) |
Y633H |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,839 (GRCm39) |
D2032G |
probably damaging |
Het |
| Sv2c |
G |
A |
13: 96,118,391 (GRCm39) |
T486I |
possibly damaging |
Het |
| Tesk1 |
T |
C |
4: 43,447,100 (GRCm39) |
F496S |
probably damaging |
Het |
| Tfg |
T |
A |
16: 56,533,071 (GRCm39) |
E29D |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,880,333 (GRCm39) |
T2038I |
probably damaging |
Het |
| Tor4a |
T |
G |
2: 25,084,976 (GRCm39) |
N309T |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,003,821 (GRCm39) |
T257A |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,790,828 (GRCm39) |
A621V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r6 |
A |
C |
6: 56,980,179 (GRCm39) |
Q258H |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,863 (GRCm39) |
C786R |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,953 (GRCm39) |
D638G |
probably benign |
Het |
| Zfp934 |
A |
G |
13: 62,665,652 (GRCm39) |
C330R |
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 |
|
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'- TGAGACTGGATATGGCTTCAC -3'
(R):5'- CAAAAGATGGCCCATCCTGG -3'
Sequencing Primer
(F):5'- ACTGGATATGGCTTCACTCTTGTAAG -3'
(R):5'- CCATCCTGGGGAGAGTGTACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation