Incidental Mutation 'IGL02716:Phldb2'
| ID |
304752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phldb2
|
| Ensembl Gene |
ENSMUSG00000033149 |
| Gene Name |
pleckstrin homology like domain, family B, member 2 |
| Synonyms |
LL5b, C820004H04Rik, LL5beta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45621953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 676
(S676P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
| AlphaFold |
Q8K1N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036355
AA Change: S631P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: S631P
| 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: S631P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: S631P
| 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 |
probably damaging
Transcript: ENSMUST00000134802
AA Change: S676P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: S676P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
C |
11: 54,218,102 (GRCm39) |
S212P |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,983,576 (GRCm39) |
R711Q |
possibly damaging |
Het |
| Akp3 |
A |
C |
1: 87,053,201 (GRCm39) |
D91A |
probably damaging |
Het |
| Arhgap12 |
T |
A |
18: 6,111,857 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,425 (GRCm39) |
Y2104C |
probably damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,868 (GRCm39) |
S420L |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,265,390 (GRCm39) |
N210S |
possibly damaging |
Het |
| Chadl |
T |
C |
15: 81,580,116 (GRCm39) |
N40D |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,742 (GRCm39) |
E586G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,504,422 (GRCm39) |
Q47L |
probably benign |
Het |
| Cyp2c40 |
C |
A |
19: 39,795,980 (GRCm39) |
D133Y |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,536,246 (GRCm39) |
M3679K |
probably damaging |
Het |
| Dym |
T |
C |
18: 75,419,754 (GRCm39) |
Y642H |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,034,627 (GRCm39) |
D65G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,633,672 (GRCm39) |
F445I |
probably damaging |
Het |
| Epdr1 |
C |
T |
13: 19,778,740 (GRCm39) |
V119M |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,357,602 (GRCm39) |
R799S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,199,277 (GRCm39) |
V778E |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,098,177 (GRCm39) |
K127* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,800,859 (GRCm39) |
E1302K |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,635 (GRCm39) |
F1382L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,645,642 (GRCm39) |
I318V |
possibly damaging |
Het |
| Fscn2 |
A |
T |
11: 120,257,550 (GRCm39) |
T304S |
probably benign |
Het |
| Gab1 |
A |
T |
8: 81,496,323 (GRCm39) |
L659Q |
probably damaging |
Het |
| Gm4845 |
A |
C |
1: 141,184,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm572 |
A |
G |
4: 148,739,327 (GRCm39) |
M52V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,796,520 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,231,496 (GRCm39) |
T9A |
probably damaging |
Het |
| Krt87 |
A |
C |
15: 101,332,485 (GRCm39) |
F243V |
possibly damaging |
Het |
| Lyset |
A |
G |
12: 102,711,088 (GRCm39) |
T104A |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,662,352 (GRCm39) |
P52Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,047,277 (GRCm39) |
Q211L |
probably benign |
Het |
| Mtrex |
T |
G |
13: 113,019,680 (GRCm39) |
D810A |
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,173,120 (GRCm39) |
P968T |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,764,073 (GRCm39) |
*614R |
probably null |
Het |
| Myo15b |
A |
T |
11: 115,774,535 (GRCm39) |
E2049V |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,176,976 (GRCm39) |
H581L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,847,982 (GRCm39) |
S241T |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,355 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,126 (GRCm39) |
I50F |
probably benign |
Het |
| Or4x11 |
G |
T |
2: 89,868,138 (GRCm39) |
V292L |
probably benign |
Het |
| Rttn |
G |
A |
18: 89,066,541 (GRCm39) |
E1196K |
possibly damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,248,635 (GRCm39) |
P548S |
unknown |
Het |
| Slc2a7 |
A |
G |
4: 150,244,467 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,547,135 (GRCm39) |
S261P |
possibly damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,896 (GRCm39) |
Y42F |
possibly damaging |
Het |
| Srrm3 |
A |
G |
5: 135,883,287 (GRCm39) |
|
probably null |
Het |
| Stambp |
G |
A |
6: 83,533,372 (GRCm39) |
T297I |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,017,668 (GRCm39) |
Y129N |
probably damaging |
Het |
| Syt14 |
G |
A |
1: 192,662,843 (GRCm39) |
P368S |
possibly damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,227 (GRCm39) |
D222G |
probably damaging |
Het |
| Tead2 |
C |
A |
7: 44,881,720 (GRCm39) |
Y79* |
probably null |
Het |
| Uso1 |
T |
C |
5: 92,321,794 (GRCm39) |
V229A |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,124 (GRCm39) |
S97P |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,678 (GRCm39) |
V88D |
probably benign |
Het |
| Vps29 |
A |
G |
5: 122,500,129 (GRCm39) |
T85A |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,076,194 (GRCm39) |
S500C |
probably damaging |
Het |
| Zfp958 |
G |
A |
8: 4,675,967 (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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation