Incidental Mutation 'R6897:Phldb2'
ID |
538425 |
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 |
044991-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6897 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45598138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 850
(K850E)
|
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: K805E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149 AA Change: K805E
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: K805E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149 AA Change: K805E
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 damaging
Transcript: ENSMUST00000131003
AA Change: K168E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119718 Gene: ENSMUSG00000033149 AA Change: K168E
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: K850E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123284 Gene: ENSMUSG00000033149 AA Change: K850E
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: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,889,534 (GRCm39) |
I28V |
possibly damaging |
Het |
Adamts2 |
A |
T |
11: 50,627,991 (GRCm39) |
|
probably null |
Het |
Adgrg1 |
T |
C |
8: 95,729,126 (GRCm39) |
F17L |
probably benign |
Het |
Aldob |
A |
G |
4: 49,539,789 (GRCm39) |
L183P |
probably damaging |
Het |
Alg5 |
T |
C |
3: 54,656,063 (GRCm39) |
C270R |
probably benign |
Het |
Anxa4 |
T |
A |
6: 86,720,160 (GRCm39) |
|
probably null |
Het |
Armc2 |
C |
A |
10: 41,869,225 (GRCm39) |
|
probably null |
Het |
Atrnl1 |
A |
G |
19: 58,030,800 (GRCm39) |
N1314S |
probably benign |
Het |
Bbs7 |
T |
A |
3: 36,652,460 (GRCm39) |
E331V |
probably benign |
Het |
Bmper |
T |
A |
9: 23,285,225 (GRCm39) |
V258E |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,939,139 (GRCm39) |
I671F |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,920,376 (GRCm39) |
S508P |
probably damaging |
Het |
Cd177 |
C |
T |
7: 24,444,499 (GRCm39) |
R694H |
probably benign |
Het |
Clptm1 |
C |
A |
7: 19,369,751 (GRCm39) |
Q386H |
possibly damaging |
Het |
Cnrip1 |
A |
G |
11: 17,004,705 (GRCm39) |
Y85C |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,739,070 (GRCm39) |
F310I |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,984,562 (GRCm39) |
K186R |
probably null |
Het |
Dmxl1 |
C |
A |
18: 49,996,124 (GRCm39) |
Q417K |
possibly damaging |
Het |
Eloa |
T |
C |
4: 135,740,220 (GRCm39) |
D67G |
possibly damaging |
Het |
Elovl4 |
T |
C |
9: 83,665,278 (GRCm39) |
I103V |
probably benign |
Het |
Gabpa |
C |
G |
16: 84,657,361 (GRCm39) |
A412G |
probably benign |
Het |
Gldn |
T |
A |
9: 54,242,158 (GRCm39) |
|
probably null |
Het |
Ino80d |
A |
T |
1: 63,104,993 (GRCm39) |
I361N |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,796,073 (GRCm39) |
T1234M |
probably damaging |
Het |
Kcnk13 |
T |
A |
12: 100,028,026 (GRCm39) |
M367K |
probably benign |
Het |
Klrd1 |
G |
A |
6: 129,570,468 (GRCm39) |
R8Q |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,758,942 (GRCm39) |
N969S |
probably benign |
Het |
Lgi4 |
A |
G |
7: 30,768,315 (GRCm39) |
D438G |
probably benign |
Het |
Lig1 |
T |
C |
7: 13,039,840 (GRCm39) |
L684P |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,340,846 (GRCm39) |
M1010V |
probably benign |
Het |
Magi3 |
C |
A |
3: 103,996,873 (GRCm39) |
R224I |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,380,573 (GRCm39) |
N277S |
probably damaging |
Het |
Morn1 |
A |
G |
4: 155,171,112 (GRCm39) |
H17R |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,749,878 (GRCm39) |
S265T |
probably damaging |
Het |
Or5m11b |
A |
G |
2: 85,805,700 (GRCm39) |
T38A |
possibly damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,024 (GRCm39) |
T246I |
possibly damaging |
Het |
Palb2 |
A |
G |
7: 121,726,270 (GRCm39) |
|
probably null |
Het |
Pdzd2 |
C |
T |
15: 12,385,951 (GRCm39) |
V940M |
probably damaging |
Het |
Pitx1 |
G |
A |
13: 55,976,335 (GRCm39) |
T108M |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
Pomp |
T |
A |
5: 147,812,313 (GRCm39) |
M133K |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,423,913 (GRCm39) |
E993G |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,075 (GRCm39) |
|
probably benign |
Het |
Pwp2 |
C |
A |
10: 78,007,917 (GRCm39) |
Q879H |
probably damaging |
Het |
Rab26 |
G |
A |
17: 24,748,766 (GRCm39) |
T245I |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,592,514 (GRCm39) |
D502G |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,550,421 (GRCm39) |
D153E |
probably benign |
Het |
Sez6 |
C |
G |
11: 77,844,385 (GRCm39) |
H69Q |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,893,095 (GRCm39) |
T391S |
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,234,670 (GRCm39) |
V151A |
possibly damaging |
Het |
Socs1 |
G |
T |
16: 10,602,266 (GRCm39) |
A157E |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,566,145 (GRCm39) |
Q110L |
possibly damaging |
Het |
Sptbn4 |
C |
A |
7: 27,071,375 (GRCm39) |
V346L |
possibly damaging |
Het |
Srgap1 |
T |
A |
10: 121,621,523 (GRCm39) |
H990L |
probably damaging |
Het |
Tbc1d9 |
G |
T |
8: 83,892,809 (GRCm39) |
G36W |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,395,782 (GRCm39) |
E437G |
probably benign |
Het |
Tns3 |
A |
G |
11: 8,481,743 (GRCm39) |
L203P |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,656,638 (GRCm39) |
K283M |
probably damaging |
Het |
Ttyh1 |
C |
T |
7: 4,127,649 (GRCm39) |
|
probably benign |
Het |
Ufd1 |
T |
A |
16: 18,645,850 (GRCm39) |
I254N |
probably benign |
Het |
Ugdh |
T |
G |
5: 65,584,776 (GRCm39) |
T49P |
probably benign |
Het |
Vav3 |
T |
C |
3: 109,434,810 (GRCm39) |
L447P |
probably damaging |
Het |
Vmn1r216 |
A |
T |
13: 23,283,445 (GRCm39) |
K43* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,306,015 (GRCm39) |
I521T |
possibly damaging |
Het |
Wdfy3 |
T |
C |
5: 101,991,932 (GRCm39) |
T3470A |
probably benign |
Het |
Wdhd1 |
T |
A |
14: 47,485,587 (GRCm39) |
K791N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,338,911 (GRCm39) |
D384G |
probably damaging |
Het |
Zfp512b |
C |
T |
2: 181,232,273 (GRCm39) |
R86Q |
probably damaging |
Het |
Zfp735 |
A |
C |
11: 73,601,880 (GRCm39) |
I275L |
probably benign |
Het |
Zfp957 |
A |
T |
14: 79,451,344 (GRCm39) |
S152T |
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 |
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 |
|
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'- CCCTGGATTCCTATACGCACAG -3'
(R):5'- ACCATCCGTAATGACAAGCTTTTAC -3'
Sequencing Primer
(F):5'- CTGGATTCCTATACGCACAGATAAG -3'
(R):5'- CAAGCTTTTACTGAGCATAGGG -3'
|
Posted On |
2018-11-06 |