Incidental Mutation 'R7142:Phldb2'
| ID |
553499 |
| 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 |
045250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 45577539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1129
(R1129*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
| AlphaFold |
Q8K1N2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036355
AA Change: R1076*
|
| SMART Domains |
Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: R1076*
| 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
AA Change: R1129*
|
| SMART Domains |
Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: R1129*
| 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 null
Transcript: ENSMUST00000131003
AA Change: R391*
|
| SMART Domains |
Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: R391*
| 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 null
Transcript: ENSMUST00000134802
AA Change: R1121*
|
| SMART Domains |
Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: R1121*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,446 (GRCm39) |
H290L |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,082,050 (GRCm39) |
S737C |
probably damaging |
Het |
| Abca14 |
G |
C |
7: 119,850,406 (GRCm39) |
V753L |
possibly damaging |
Het |
| Adgrl1 |
C |
T |
8: 84,663,829 (GRCm39) |
H1099Y |
probably benign |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Aldh1l1 |
G |
A |
6: 90,540,398 (GRCm39) |
D228N |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,288,230 (GRCm39) |
Q1883K |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,562 (GRCm39) |
Y125H |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,527,192 (GRCm39) |
Y139N |
probably damaging |
Het |
| Cd93 |
C |
T |
2: 148,283,725 (GRCm39) |
W540* |
probably null |
Het |
| Cdh3 |
G |
A |
8: 107,271,860 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,794 (GRCm39) |
Q88* |
probably null |
Het |
| Cpt1a |
T |
C |
19: 3,425,100 (GRCm39) |
M489T |
probably benign |
Het |
| Ctsk |
G |
A |
3: 95,414,259 (GRCm39) |
V274M |
possibly damaging |
Het |
| Cyp3a44 |
A |
G |
5: 145,714,771 (GRCm39) |
V460A |
probably benign |
Het |
| Cypt4 |
C |
T |
9: 24,536,740 (GRCm39) |
R77* |
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah7a |
A |
T |
1: 53,452,927 (GRCm39) |
Y3850* |
probably null |
Het |
| Drosha |
A |
T |
15: 12,924,232 (GRCm39) |
T1205S |
possibly damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,465 (GRCm39) |
E116G |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,213,374 (GRCm39) |
E790G |
probably damaging |
Het |
| Fam163b |
C |
T |
2: 27,003,567 (GRCm39) |
R29Q |
probably damaging |
Het |
| Fbxo44 |
C |
T |
4: 148,243,269 (GRCm39) |
G50E |
unknown |
Het |
| Foxo3 |
T |
C |
10: 42,150,591 (GRCm39) |
|
probably null |
Het |
| Gnal |
C |
T |
18: 67,351,599 (GRCm39) |
P386L |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,654,615 (GRCm39) |
H478Q |
probably benign |
Het |
| Grhl2 |
A |
T |
15: 37,279,826 (GRCm39) |
D178V |
probably benign |
Het |
| Gtf2i |
C |
A |
5: 134,273,705 (GRCm39) |
V755L |
possibly damaging |
Het |
| Hal |
T |
C |
10: 93,336,513 (GRCm39) |
V414A |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,157,465 (GRCm39) |
V193A |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,802,327 (GRCm39) |
M12K |
probably benign |
Het |
| Invs |
T |
A |
4: 48,407,696 (GRCm39) |
I557N |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,170 (GRCm39) |
H523Q |
probably benign |
Het |
| Lrp4 |
T |
A |
2: 91,325,339 (GRCm39) |
I1388N |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,587,291 (GRCm39) |
I63V |
probably benign |
Het |
| Mcoln2 |
G |
A |
3: 145,889,324 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
T |
1: 127,339,924 (GRCm39) |
D435V |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,753 (GRCm39) |
R46L |
probably damaging |
Het |
| Mxra8 |
A |
T |
4: 155,927,519 (GRCm39) |
Y409F |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,062,901 (GRCm39) |
R720* |
probably null |
Het |
| Ofcc1 |
T |
C |
13: 40,157,538 (GRCm39) |
I887V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,056 (GRCm39) |
I174V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,391 (GRCm39) |
|
probably null |
Het |
| P3h1 |
T |
A |
4: 119,104,358 (GRCm39) |
D626E |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,153,857 (GRCm39) |
D485V |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,420,596 (GRCm39) |
E10G |
possibly damaging |
Het |
| Psd2 |
A |
G |
18: 36,113,097 (GRCm39) |
D264G |
possibly damaging |
Het |
| Psg29 |
A |
G |
7: 16,944,546 (GRCm39) |
D352G |
probably damaging |
Het |
| Rgs14 |
T |
C |
13: 55,527,417 (GRCm39) |
S218P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,048,379 (GRCm39) |
T380A |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,806,226 (GRCm39) |
T312A |
unknown |
Het |
| Skint5 |
A |
T |
4: 113,428,791 (GRCm39) |
V1075E |
unknown |
Het |
| Ston2 |
A |
G |
12: 91,614,009 (GRCm39) |
S800P |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,081,564 (GRCm39) |
N157S |
probably damaging |
Het |
| Tmem132b |
G |
A |
5: 125,699,737 (GRCm39) |
G133S |
probably damaging |
Het |
| Tmie |
A |
T |
9: 110,699,749 (GRCm39) |
M55K |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,653,017 (GRCm39) |
R608* |
probably null |
Het |
| Unc93a2 |
G |
A |
17: 7,644,021 (GRCm39) |
T96I |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,960,754 (GRCm39) |
S891P |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,035 (GRCm39) |
T28A |
probably damaging |
Het |
| Wnk1 |
T |
A |
6: 119,926,240 (GRCm39) |
M1324L |
probably benign |
Het |
| Wrnip1 |
C |
A |
13: 32,986,616 (GRCm39) |
S132R |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,141,814 (GRCm39) |
K68E |
probably benign |
Het |
| Zfp433 |
A |
T |
10: 81,556,040 (GRCm39) |
K181* |
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 |
|
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 |
|
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'- GTTCTGCCAAACACTAGATATTCC -3'
(R):5'- TGACTTTGGGAGCTATGCAGAG -3'
Sequencing Primer
(F):5'- TGCCAAACACTAGATATTCCTAGAC -3'
(R):5'- ACCAGAACAGAAGATGAAAATTGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation