Incidental Mutation 'R9718:Phldb2'
| ID |
730634 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45566606-45773961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45601756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 728
(H728L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036355]
[ENSMUST00000076333]
[ENSMUST00000134802]
|
| AlphaFold |
Q8K1N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036355
AA Change: H728L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046496
Gene: ENSMUSG00000033149
AA Change: H728L
| 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: H728L
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075672
Gene: ENSMUSG00000033149
AA Change: H728L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119718
Gene: ENSMUSG00000033149
AA Change: H91L
| 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 |
possibly damaging
Transcript: ENSMUST00000134802
AA Change: H773L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123284
Gene: ENSMUSG00000033149
AA Change: H773L
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
C |
2: 32,465,247 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,206,007 (GRCm39) |
D34E |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| Cbfa2t3 |
T |
A |
8: 123,364,936 (GRCm39) |
D282V |
probably benign |
Het |
| Ccl9 |
T |
A |
11: 83,466,238 (GRCm39) |
N114I |
probably benign |
Het |
| Cdan1 |
G |
T |
2: 120,554,650 (GRCm39) |
A875E |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,726,349 (GRCm39) |
F61L |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,712,801 (GRCm39) |
Y875H |
unknown |
Het |
| Ckap5 |
A |
T |
2: 91,379,177 (GRCm39) |
K39M |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,390,434 (GRCm39) |
H169R |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,560,083 (GRCm39) |
V1416F |
|
Het |
| Cyp4v3 |
A |
T |
8: 45,773,703 (GRCm39) |
H155Q |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,466 (GRCm39) |
F874S |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,450,544 (GRCm39) |
Q719L |
probably benign |
Het |
| Evi2 |
C |
T |
11: 79,406,583 (GRCm39) |
V331M |
probably damaging |
Het |
| Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,545,112 (GRCm39) |
T250N |
probably benign |
Het |
| Ftdc1 |
A |
G |
16: 58,434,974 (GRCm39) |
L117S |
probably benign |
Het |
| Galc |
G |
A |
12: 98,225,573 (GRCm39) |
P6S |
|
Het |
| Gm5134 |
A |
T |
10: 75,828,331 (GRCm39) |
M304L |
possibly damaging |
Het |
| Haao |
T |
C |
17: 84,142,215 (GRCm39) |
E208G |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,904,678 (GRCm39) |
H553Q |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,280 (GRCm39) |
|
probably null |
Het |
| Ighv10-3 |
C |
T |
12: 114,487,254 (GRCm39) |
V56I |
probably benign |
Het |
| Ighv1-62-1 |
G |
T |
12: 115,350,705 (GRCm39) |
A15E |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,378 (GRCm39) |
*249W |
probably null |
Het |
| Ktn1 |
T |
G |
14: 47,910,508 (GRCm39) |
I318R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,572,123 (GRCm39) |
T710A |
unknown |
Het |
| Ldha |
A |
T |
7: 46,504,456 (GRCm39) |
Q326L |
possibly damaging |
Het |
| Map4 |
G |
A |
9: 109,901,774 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
A |
6: 15,770,514 (GRCm39) |
H173Q |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,271,692 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Omd |
T |
C |
13: 49,743,336 (GRCm39) |
S129P |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,914 (GRCm39) |
G110D |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,735,196 (GRCm39) |
V152A |
probably benign |
Het |
| Parp16 |
A |
G |
9: 65,141,009 (GRCm39) |
Y193C |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,763,174 (GRCm39) |
T201A |
|
Het |
| Prrt1b |
A |
T |
2: 29,637,548 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,813,641 (GRCm39) |
T514I |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,976,094 (GRCm39) |
D24G |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,080,165 (GRCm39) |
A1410T |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,721 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,243 (GRCm39) |
S156G |
unknown |
Het |
| Rtf1 |
A |
G |
2: 119,535,986 (GRCm39) |
D180G |
possibly damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,490 (GRCm39) |
D108E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,277 (GRCm39) |
D200E |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,616,848 (GRCm39) |
S431G |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,073,472 (GRCm39) |
D773E |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,089,248 (GRCm39) |
L1662P |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,804,328 (GRCm39) |
P829T |
possibly damaging |
Het |
| Snapc4 |
A |
T |
2: 26,268,533 (GRCm39) |
S43T |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,572,496 (GRCm39) |
V679M |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,765 (GRCm39) |
Y69S |
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,663,836 (GRCm39) |
T341M |
unknown |
Het |
| Tjp2 |
A |
C |
19: 24,078,207 (GRCm39) |
S895R |
probably damaging |
Het |
| Tmem220 |
G |
T |
11: 66,916,086 (GRCm39) |
A28S |
probably damaging |
Het |
| Trdv1 |
G |
A |
14: 54,119,663 (GRCm39) |
C109Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,634,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,625,027 (GRCm39) |
M15184V |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,802 (GRCm39) |
Y355F |
probably benign |
Het |
| Vnn3 |
C |
T |
10: 23,745,454 (GRCm39) |
R468* |
probably null |
Het |
| Washc5 |
T |
A |
15: 59,217,192 (GRCm39) |
T792S |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,847,893 (GRCm39) |
M820V |
|
Het |
| Zfp961 |
T |
A |
8: 72,721,933 (GRCm39) |
C149S |
possibly damaging |
Het |
| Zmat4 |
G |
A |
8: 24,238,507 (GRCm39) |
V30M |
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 |
|
|
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 |
|
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'- TCAATGGCTGTCTCAGTGAGG -3'
(R):5'- TTCTCACAGCTGGGTTTACC -3'
Sequencing Primer
(F):5'- GGTGATTACTGTCCCACGGTTAAC -3'
(R):5'- ACAGCTGGGTTTACCTCCATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation