Incidental Mutation 'R8969:Phldb2'
ID |
682969 |
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 |
068803-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8969 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 45592496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075672
(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 null
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,227,944 (GRCm39) |
N662K |
probably benign |
Het |
Acp7 |
G |
A |
7: 28,307,382 (GRCm39) |
R492W |
probably damaging |
Het |
Adam33 |
C |
T |
2: 130,894,994 (GRCm39) |
G688D |
probably damaging |
Het |
Ak3 |
T |
G |
19: 29,025,094 (GRCm39) |
M46L |
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,547,790 (GRCm39) |
T417A |
probably benign |
Het |
Ambp |
C |
T |
4: 63,072,328 (GRCm39) |
|
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,632,949 (GRCm39) |
S687P |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,873,598 (GRCm39) |
M127T |
possibly damaging |
Het |
Atg9b |
C |
T |
5: 24,592,832 (GRCm39) |
A524T |
probably benign |
Het |
Btbd10 |
A |
T |
7: 112,925,162 (GRCm39) |
S277T |
probably damaging |
Het |
Ccdc167 |
T |
C |
17: 29,924,553 (GRCm39) |
D16G |
probably damaging |
Het |
Cdh12 |
A |
G |
15: 21,492,739 (GRCm39) |
T253A |
probably damaging |
Het |
Cfap206 |
A |
T |
4: 34,692,522 (GRCm39) |
D501E |
probably benign |
Het |
Chrnb2 |
A |
G |
3: 89,664,532 (GRCm39) |
F461L |
probably damaging |
Het |
Clic1 |
T |
C |
17: 35,274,386 (GRCm39) |
|
probably null |
Het |
Cmah |
A |
G |
13: 24,606,636 (GRCm39) |
Y89C |
probably damaging |
Het |
Crkl |
A |
G |
16: 17,286,918 (GRCm39) |
E158G |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,049,630 (GRCm39) |
E486V |
probably benign |
Het |
D16Ertd472e |
T |
G |
16: 78,344,682 (GRCm39) |
Y142S |
probably damaging |
Het |
Decr2 |
T |
A |
17: 26,306,355 (GRCm39) |
M94L |
probably benign |
Het |
Dspp |
A |
T |
5: 104,325,640 (GRCm39) |
S668C |
unknown |
Het |
Dync2h1 |
T |
C |
9: 7,130,723 (GRCm39) |
R1708G |
probably damaging |
Het |
Eno3 |
T |
A |
11: 70,551,691 (GRCm39) |
I217N |
possibly damaging |
Het |
Fcho2 |
A |
T |
13: 98,891,604 (GRCm39) |
L386* |
probably null |
Het |
Gm5114 |
C |
A |
7: 39,058,732 (GRCm39) |
V296F |
probably damaging |
Het |
Hc |
A |
G |
2: 34,909,475 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
G |
2: 180,879,581 (GRCm39) |
V679A |
probably benign |
Het |
Ifnar2 |
T |
C |
16: 91,201,060 (GRCm39) |
F434L |
probably benign |
Het |
Isl1 |
A |
G |
13: 116,439,857 (GRCm39) |
S164P |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,967,116 (GRCm39) |
Y621* |
probably null |
Het |
Kif2b |
T |
C |
11: 91,468,019 (GRCm39) |
H88R |
probably benign |
Het |
Kit |
G |
A |
5: 75,799,722 (GRCm39) |
V485I |
|
Het |
Klhl36 |
T |
C |
8: 120,596,887 (GRCm39) |
L196P |
probably damaging |
Het |
Klk1b27 |
T |
A |
7: 43,703,932 (GRCm39) |
I25K |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,387 (GRCm39) |
Q2241L |
possibly damaging |
Het |
Krt10 |
T |
A |
11: 99,278,434 (GRCm39) |
N242Y |
probably damaging |
Het |
Krt36 |
T |
A |
11: 99,993,129 (GRCm39) |
I449F |
probably damaging |
Het |
Med27 |
G |
T |
2: 29,236,875 (GRCm39) |
V7F |
possibly damaging |
Het |
Mettl25b |
G |
A |
3: 87,837,282 (GRCm39) |
|
probably benign |
Het |
Mxd1 |
C |
T |
6: 86,628,466 (GRCm39) |
V145M |
probably benign |
Het |
Mylip |
T |
A |
13: 45,544,820 (GRCm39) |
F81L |
probably damaging |
Het |
Nceh1 |
T |
A |
3: 27,276,885 (GRCm39) |
F69L |
probably null |
Het |
Ndufs3 |
A |
T |
2: 90,732,773 (GRCm39) |
N104K |
probably damaging |
Het |
Nfxl1 |
A |
C |
5: 72,716,473 (GRCm39) |
V46G |
unknown |
Het |
Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
Or51f1e |
T |
G |
7: 102,747,251 (GRCm39) |
I101S |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,928 (GRCm39) |
M26L |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,832 (GRCm39) |
N299D |
probably benign |
Het |
Palld |
T |
A |
8: 62,137,883 (GRCm39) |
H624L |
probably damaging |
Het |
Pcbp2 |
T |
G |
15: 102,399,214 (GRCm39) |
L343R |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,572,208 (GRCm39) |
I531N |
unknown |
Het |
Phip |
T |
C |
9: 82,809,017 (GRCm39) |
|
probably benign |
Het |
Ppp2r5e |
G |
T |
12: 75,500,492 (GRCm39) |
T467N |
possibly damaging |
Het |
Ptcd3 |
T |
C |
6: 71,880,431 (GRCm39) |
I97M |
probably benign |
Het |
Ptpn21 |
T |
A |
12: 98,655,284 (GRCm39) |
Q561L |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,149,079 (GRCm39) |
H121Q |
possibly damaging |
Het |
Sec1 |
A |
G |
7: 45,328,897 (GRCm39) |
F50S |
possibly damaging |
Het |
Sec62 |
A |
G |
3: 30,873,024 (GRCm39) |
E369G |
unknown |
Het |
Serpinb2 |
A |
T |
1: 107,452,390 (GRCm39) |
I323F |
probably damaging |
Het |
Sh3rf1 |
A |
C |
8: 61,837,860 (GRCm39) |
T802P |
probably benign |
Het |
Srd5a3 |
A |
G |
5: 76,301,493 (GRCm39) |
R241G |
probably benign |
Het |
Suox |
T |
C |
10: 128,507,542 (GRCm39) |
N162S |
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,942,688 (GRCm39) |
C1327Y |
probably damaging |
Het |
Terf2ip |
A |
G |
8: 112,738,370 (GRCm39) |
D86G |
probably damaging |
Het |
Tmc1 |
G |
A |
19: 20,793,593 (GRCm39) |
R523C |
probably damaging |
Het |
Tmprss11e |
T |
A |
5: 86,861,758 (GRCm39) |
I263L |
possibly damaging |
Het |
Tmtc4 |
T |
C |
14: 123,179,224 (GRCm39) |
|
probably benign |
Het |
Tnfrsf22 |
T |
A |
7: 143,192,173 (GRCm39) |
N171I |
unknown |
Het |
Trpm3 |
A |
G |
19: 22,903,308 (GRCm39) |
S1035G |
probably damaging |
Het |
U2af1 |
C |
T |
17: 31,867,854 (GRCm39) |
V72M |
possibly damaging |
Het |
Uimc1 |
A |
G |
13: 55,233,447 (GRCm39) |
C70R |
possibly damaging |
Het |
Vmn2r83 |
A |
G |
10: 79,313,853 (GRCm39) |
T154A |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,871,304 (GRCm39) |
I302T |
probably damaging |
Het |
Zbtb6 |
A |
G |
2: 37,318,677 (GRCm39) |
L417P |
probably damaging |
Het |
Zdhhc14 |
C |
T |
17: 5,775,555 (GRCm39) |
S269L |
probably benign |
Het |
Zfp735 |
T |
A |
11: 73,602,699 (GRCm39) |
F548I |
possibly damaging |
Het |
Zfp809 |
T |
C |
9: 22,137,130 (GRCm39) |
|
probably null |
Het |
Zranb3 |
A |
T |
1: 127,888,588 (GRCm39) |
D832E |
possibly 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 |
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 |
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'- ACCCACCACCTGTACTGTAG -3'
(R):5'- AGTCAAGTTTTGCTGTTCCAC -3'
Sequencing Primer
(F):5'- ACCACCTGTACTGTAGTGGCAG -3'
(R):5'- GTCAAGTTTTGCTGTTCCACTTTGC -3'
|
Posted On |
2021-10-11 |