Incidental Mutation 'R5137:Phldb2'
ID |
396241 |
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 |
042723-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5137 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45628621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 570
(S570R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
AlphaFold |
Q8K1N2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036355
AA Change: S525R
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046496 Gene: ENSMUSG00000033149 AA Change: S525R
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 |
possibly damaging
Transcript: ENSMUST00000076333
AA Change: S525R
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075672 Gene: ENSMUSG00000033149 AA Change: S525R
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 |
possibly damaging
Transcript: ENSMUST00000134802
AA Change: S570R
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123284 Gene: ENSMUSG00000033149 AA Change: S570R
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,123,920 (GRCm39) |
V75A |
probably benign |
Het |
Ace |
G |
C |
11: 105,865,652 (GRCm39) |
W628C |
probably damaging |
Het |
Adh4 |
T |
C |
3: 138,127,996 (GRCm39) |
S141P |
probably benign |
Het |
Apob |
T |
C |
12: 8,061,384 (GRCm39) |
Y3256H |
possibly damaging |
Het |
B3galnt1 |
G |
T |
3: 69,482,282 (GRCm39) |
N326K |
probably benign |
Het |
Bltp3a |
T |
G |
17: 28,095,964 (GRCm39) |
|
probably null |
Het |
Catsperb |
T |
C |
12: 101,516,070 (GRCm39) |
F569L |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,732,478 (GRCm39) |
I225V |
probably benign |
Het |
Cox5b |
A |
G |
1: 36,731,510 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,834,332 (GRCm39) |
D1953G |
probably damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,167,215 (GRCm39) |
T707M |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Ebf1 |
G |
A |
11: 44,882,295 (GRCm39) |
R409Q |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,484,645 (GRCm39) |
A256T |
probably damaging |
Het |
Eef2k |
C |
A |
7: 120,484,646 (GRCm39) |
A256D |
probably damaging |
Het |
Evl |
C |
G |
12: 108,647,781 (GRCm39) |
T294S |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,573,548 (GRCm39) |
Y288H |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,509,014 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
T |
C |
2: 3,226,426 (GRCm39) |
Y395H |
probably benign |
Het |
Gas2l3 |
C |
A |
10: 89,249,837 (GRCm39) |
R427L |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,783,233 (GRCm39) |
I91F |
probably damaging |
Het |
Gm4884 |
T |
C |
7: 40,692,318 (GRCm39) |
S96P |
probably damaging |
Het |
Gprc5d |
T |
A |
6: 135,093,031 (GRCm39) |
D292V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,355,505 (GRCm39) |
K2252R |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,489,285 (GRCm39) |
M346L |
probably benign |
Het |
Kcna5 |
A |
T |
6: 126,510,946 (GRCm39) |
V394D |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,352,617 (GRCm39) |
M431K |
possibly damaging |
Het |
Kifbp |
A |
T |
10: 62,414,020 (GRCm39) |
V46E |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,774,937 (GRCm39) |
F258L |
possibly damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,852,662 (GRCm39) |
C1001S |
probably damaging |
Het |
Micu1 |
A |
G |
10: 59,663,054 (GRCm39) |
Q328R |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,761,290 (GRCm39) |
P437S |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,287,716 (GRCm39) |
F119I |
possibly damaging |
Het |
Myo6 |
A |
G |
9: 80,149,531 (GRCm39) |
E159G |
probably damaging |
Het |
Negr1 |
T |
A |
3: 156,721,833 (GRCm39) |
Y136N |
probably damaging |
Het |
Nol9 |
T |
A |
4: 152,130,428 (GRCm39) |
C321S |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,043,378 (GRCm39) |
F551S |
probably benign |
Het |
Nup153 |
C |
A |
13: 46,837,629 (GRCm39) |
G1198C |
probably damaging |
Het |
Omd |
T |
C |
13: 49,743,552 (GRCm39) |
S201P |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
Or4c120 |
C |
A |
2: 89,000,744 (GRCm39) |
V271F |
probably benign |
Het |
Or51l14 |
A |
G |
7: 103,100,919 (GRCm39) |
Y125C |
probably damaging |
Het |
Or51l14 |
C |
A |
7: 103,100,920 (GRCm39) |
Y125* |
probably null |
Het |
Oxct1 |
G |
T |
15: 4,064,832 (GRCm39) |
A57S |
probably benign |
Het |
Pcdhga7 |
T |
G |
18: 37,850,433 (GRCm39) |
S813R |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,787 (GRCm39) |
I255F |
possibly damaging |
Het |
Pdk1 |
T |
G |
2: 71,713,913 (GRCm39) |
M186R |
possibly damaging |
Het |
Pelp1 |
T |
C |
11: 70,285,925 (GRCm39) |
T648A |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,299,992 (GRCm39) |
T270A |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,160,179 (GRCm39) |
G2130D |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,358,844 (GRCm39) |
Y663* |
probably null |
Het |
Rit2 |
T |
C |
18: 31,286,817 (GRCm39) |
T123A |
probably benign |
Het |
Rmdn2 |
A |
T |
17: 79,975,418 (GRCm39) |
E302D |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,801,283 (GRCm39) |
E827G |
possibly damaging |
Het |
Siglec1 |
C |
T |
2: 130,923,264 (GRCm39) |
G494R |
probably damaging |
Het |
Slc16a14 |
T |
A |
1: 84,890,318 (GRCm39) |
Y329F |
probably damaging |
Het |
Slc35d1 |
A |
T |
4: 103,071,978 (GRCm39) |
L8Q |
possibly damaging |
Het |
Smpdl3a |
C |
T |
10: 57,677,163 (GRCm39) |
S57L |
possibly damaging |
Het |
Snx9 |
T |
C |
17: 5,978,528 (GRCm39) |
V566A |
probably damaging |
Het |
Spaca1 |
A |
T |
4: 34,029,095 (GRCm39) |
I126N |
probably damaging |
Het |
Spred1 |
T |
G |
2: 116,994,052 (GRCm39) |
I94S |
probably damaging |
Het |
Tardbp |
T |
C |
4: 148,706,494 (GRCm39) |
D105G |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,326 (GRCm39) |
S1213G |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,196,121 (GRCm39) |
|
probably benign |
Het |
Trem3 |
G |
A |
17: 48,556,756 (GRCm39) |
V76M |
possibly damaging |
Het |
Ttc13 |
G |
T |
8: 125,421,674 (GRCm39) |
Y250* |
probably null |
Het |
Ttll5 |
T |
G |
12: 85,969,819 (GRCm39) |
S714R |
possibly damaging |
Het |
Ube2l6 |
T |
G |
2: 84,633,220 (GRCm39) |
|
probably null |
Het |
Ubr3 |
T |
C |
2: 69,803,679 (GRCm39) |
S1090P |
probably damaging |
Het |
Vezt |
T |
C |
10: 93,806,372 (GRCm39) |
T680A |
probably benign |
Het |
Virma |
A |
G |
4: 11,546,297 (GRCm39) |
K1762E |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,057,074 (GRCm39) |
S57P |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,822 (GRCm39) |
D130Y |
probably damaging |
Het |
Vwa8 |
T |
G |
14: 79,302,342 (GRCm39) |
F1004V |
probably damaging |
Het |
Zfp35 |
A |
T |
18: 24,137,194 (GRCm39) |
K513* |
probably null |
Het |
Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,978,505 (GRCm39) |
C636F |
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 |
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'- TCCGTGAAAGCATGTGCAC -3'
(R):5'- ATACAAAGCCTGAAGGTCGCC -3'
Sequencing Primer
(F):5'- GAAAGCATGTGCACCGCCC -3'
(R):5'- TGAAGGTCGCCGCCTGTC -3'
|
Posted On |
2016-06-21 |