Incidental Mutation 'R2045:Phlpp2'
| ID |
221840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phlpp2
|
| Ensembl Gene |
ENSMUSG00000031732 |
| Gene Name |
PH domain and leucine rich repeat protein phosphatase 2 |
| Synonyms |
C130044A18Rik, Phlppl |
| MMRRC Submission |
040052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R2045 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110634232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 271
(W271R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
| AlphaFold |
Q8BXA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034175
AA Change: W236R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: W236R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Blast:PH
|
148 |
247 |
3e-61 |
BLAST |
|
LRR
|
295 |
314 |
1.12e2 |
SMART |
|
Pfam:LRR_7
|
319 |
335 |
3.5e-2 |
PFAM |
|
LRR
|
341 |
363 |
2.82e0 |
SMART |
|
LRR
|
364 |
387 |
9.75e0 |
SMART |
|
LRR
|
456 |
479 |
2.68e1 |
SMART |
|
LRR
|
498 |
517 |
1.35e1 |
SMART |
|
LRR
|
521 |
540 |
5.59e1 |
SMART |
|
LRR
|
544 |
563 |
2.79e1 |
SMART |
|
LRR
|
569 |
589 |
1.62e1 |
SMART |
|
LRR
|
590 |
609 |
1.67e1 |
SMART |
|
LRR
|
616 |
641 |
1.33e2 |
SMART |
|
LRR
|
640 |
659 |
1.4e1 |
SMART |
|
LRR_TYP
|
664 |
687 |
6.78e-3 |
SMART |
|
LRR
|
709 |
733 |
2.15e2 |
SMART |
|
PP2Cc
|
772 |
1028 |
2.98e-30 |
SMART |
|
low complexity region
|
1061 |
1095 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1109 |
1175 |
8e-15 |
BLAST |
|
low complexity region
|
1297 |
1315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154262
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179721
AA Change: W271R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: W271R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
92 |
N/A |
INTRINSIC |
|
Blast:PH
|
183 |
282 |
4e-61 |
BLAST |
|
LRR
|
330 |
349 |
1.12e2 |
SMART |
|
LRR
|
376 |
398 |
2.82e0 |
SMART |
|
LRR
|
399 |
422 |
9.75e0 |
SMART |
|
LRR
|
491 |
514 |
2.68e1 |
SMART |
|
LRR
|
533 |
552 |
1.35e1 |
SMART |
|
LRR
|
556 |
575 |
5.59e1 |
SMART |
|
LRR
|
579 |
598 |
2.79e1 |
SMART |
|
LRR
|
604 |
624 |
1.62e1 |
SMART |
|
LRR
|
625 |
644 |
1.67e1 |
SMART |
|
LRR
|
651 |
676 |
1.33e2 |
SMART |
|
LRR
|
675 |
694 |
1.4e1 |
SMART |
|
LRR_TYP
|
699 |
722 |
6.78e-3 |
SMART |
|
LRR
|
744 |
768 |
2.15e2 |
SMART |
|
PP2Cc
|
807 |
1063 |
2.98e-30 |
SMART |
|
low complexity region
|
1096 |
1130 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1144 |
1210 |
8e-15 |
BLAST |
|
low complexity region
|
1332 |
1350 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8902 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,799 (GRCm39) |
G303E |
probably damaging |
Het |
| Adamts1 |
A |
T |
16: 85,592,864 (GRCm39) |
Y515N |
probably damaging |
Het |
| Ankef1 |
T |
C |
2: 136,396,658 (GRCm39) |
V695A |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,834 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
| Atp5pb |
T |
C |
3: 105,851,190 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
A |
C |
6: 118,369,588 (GRCm39) |
L960W |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,098 (GRCm39) |
V977A |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,839,121 (GRCm39) |
S6P |
possibly damaging |
Het |
| Capn8 |
A |
G |
1: 182,440,951 (GRCm39) |
T462A |
probably benign |
Het |
| Cd226 |
T |
C |
18: 89,225,486 (GRCm39) |
S128P |
probably benign |
Het |
| Cd33 |
G |
T |
7: 43,179,316 (GRCm39) |
H278N |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,392,814 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,874,671 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,078,882 (GRCm39) |
I397M |
probably benign |
Het |
| Cic |
C |
A |
7: 24,970,961 (GRCm39) |
Q231K |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,630,924 (GRCm39) |
V312A |
probably damaging |
Het |
| Cngb1 |
T |
A |
8: 96,023,713 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
C |
11: 46,140,616 (GRCm39) |
I430V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,503,485 (GRCm39) |
E1613G |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,244,106 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,160,171 (GRCm39) |
F646I |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,218,646 (GRCm39) |
K144* |
probably null |
Het |
| Erap1 |
T |
C |
13: 74,817,569 (GRCm39) |
V137A |
probably benign |
Het |
| Far1 |
A |
T |
7: 113,138,478 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,223,730 (GRCm39) |
C807S |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,048,231 (GRCm39) |
K209R |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
T |
3: 53,443,165 (GRCm39) |
V2533D |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,138,794 (GRCm39) |
M839T |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,891,310 (GRCm39) |
S303G |
probably benign |
Het |
| Insyn2a |
T |
G |
7: 134,520,159 (GRCm39) |
K124Q |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
G |
11: 104,514,239 (GRCm39) |
S27A |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,088,051 (GRCm39) |
D1015N |
probably damaging |
Het |
| Krt7 |
A |
T |
15: 101,321,365 (GRCm39) |
|
probably null |
Het |
| Krtdap |
T |
A |
7: 30,490,010 (GRCm39) |
F80L |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,437,841 (GRCm39) |
T84S |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,347,087 (GRCm39) |
T444I |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,048,003 (GRCm39) |
E316V |
probably damaging |
Het |
| Lypd1 |
G |
A |
1: 125,838,272 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,731 (GRCm39) |
K1632* |
probably null |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,583 (GRCm39) |
M28K |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,774,023 (GRCm39) |
K1291E |
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,675,880 (GRCm39) |
W72R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,899 (GRCm39) |
V170A |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,733 (GRCm39) |
Y31N |
probably benign |
Het |
| Padi2 |
A |
T |
4: 140,665,241 (GRCm39) |
R449W |
probably damaging |
Het |
| Pcf11 |
G |
T |
7: 92,311,087 (GRCm39) |
N300K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,558,508 (GRCm39) |
D633G |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,343,050 (GRCm39) |
N176Y |
probably damaging |
Het |
| Pop5 |
T |
G |
5: 115,376,271 (GRCm39) |
V33G |
possibly damaging |
Het |
| Prkag2 |
A |
G |
5: 25,152,580 (GRCm39) |
F175L |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,781,337 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rab32 |
T |
G |
10: 10,426,577 (GRCm39) |
D123A |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,402,009 (GRCm39) |
K513E |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,957,825 (GRCm39) |
F358I |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,012,647 (GRCm39) |
L83P |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,400,613 (GRCm39) |
R741H |
probably damaging |
Het |
| Smad4 |
A |
T |
18: 73,782,877 (GRCm39) |
Y352* |
probably null |
Het |
| Tamm41 |
T |
A |
6: 114,993,056 (GRCm39) |
Q232H |
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,055 (GRCm39) |
L131Q |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,045,313 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,964 (GRCm39) |
A108S |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,470 (GRCm39) |
Y215C |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,091,266 (GRCm39) |
V31M |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,258,177 (GRCm39) |
M1525T |
possibly damaging |
Het |
| Vax2 |
G |
A |
6: 83,688,252 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,839,104 (GRCm39) |
I2147L |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,244 (GRCm39) |
A146E |
probably benign |
Het |
| Zfp287 |
A |
G |
11: 62,618,395 (GRCm39) |
L157P |
probably damaging |
Het |
|
| Other mutations in Phlpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Phlpp2
|
APN |
8 |
110,652,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01363:Phlpp2
|
APN |
8 |
110,663,729 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01535:Phlpp2
|
APN |
8 |
110,660,697 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01815:Phlpp2
|
APN |
8 |
110,666,491 (GRCm39) |
missense |
probably benign |
|
|
IGL02105:Phlpp2
|
APN |
8 |
110,631,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Phlpp2
|
APN |
8 |
110,646,731 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02318:Phlpp2
|
APN |
8 |
110,666,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02500:Phlpp2
|
APN |
8 |
110,640,250 (GRCm39) |
missense |
probably benign |
|
|
IGL03356:Phlpp2
|
APN |
8 |
110,662,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03366:Phlpp2
|
APN |
8 |
110,667,467 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0142:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Phlpp2
|
UTSW |
8 |
110,666,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0426:Phlpp2
|
UTSW |
8 |
110,655,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0477:Phlpp2
|
UTSW |
8 |
110,622,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0529:Phlpp2
|
UTSW |
8 |
110,603,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0605:Phlpp2
|
UTSW |
8 |
110,659,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Phlpp2
|
UTSW |
8 |
110,622,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Phlpp2
|
UTSW |
8 |
110,663,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Phlpp2
|
UTSW |
8 |
110,663,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Phlpp2
|
UTSW |
8 |
110,603,662 (GRCm39) |
nonsense |
probably null |
|
|
R1417:Phlpp2
|
UTSW |
8 |
110,667,313 (GRCm39) |
nonsense |
probably null |
|
|
R1602:Phlpp2
|
UTSW |
8 |
110,660,655 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1650:Phlpp2
|
UTSW |
8 |
110,660,587 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Phlpp2
|
UTSW |
8 |
110,666,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2074:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2075:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2433:Phlpp2
|
UTSW |
8 |
110,666,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3028:Phlpp2
|
UTSW |
8 |
110,634,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Phlpp2
|
UTSW |
8 |
110,603,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4718:Phlpp2
|
UTSW |
8 |
110,667,452 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4739:Phlpp2
|
UTSW |
8 |
110,667,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Phlpp2
|
UTSW |
8 |
110,603,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Phlpp2
|
UTSW |
8 |
110,666,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Phlpp2
|
UTSW |
8 |
110,640,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5074:Phlpp2
|
UTSW |
8 |
110,652,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Phlpp2
|
UTSW |
8 |
110,660,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5663:Phlpp2
|
UTSW |
8 |
110,630,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5668:Phlpp2
|
UTSW |
8 |
110,655,205 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6433:Phlpp2
|
UTSW |
8 |
110,661,317 (GRCm39) |
missense |
probably benign |
|
|
R6470:Phlpp2
|
UTSW |
8 |
110,663,826 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6804:Phlpp2
|
UTSW |
8 |
110,655,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7012:Phlpp2
|
UTSW |
8 |
110,603,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7183:Phlpp2
|
UTSW |
8 |
110,666,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Phlpp2
|
UTSW |
8 |
110,666,820 (GRCm39) |
missense |
probably benign |
|
|
R7312:Phlpp2
|
UTSW |
8 |
110,666,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7349:Phlpp2
|
UTSW |
8 |
110,655,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7801:Phlpp2
|
UTSW |
8 |
110,652,474 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8059:Phlpp2
|
UTSW |
8 |
110,622,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8174:Phlpp2
|
UTSW |
8 |
110,595,321 (GRCm39) |
missense |
unknown |
|
|
R8242:Phlpp2
|
UTSW |
8 |
110,666,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8488:Phlpp2
|
UTSW |
8 |
110,640,202 (GRCm39) |
missense |
probably benign |
|
|
R8688:Phlpp2
|
UTSW |
8 |
110,631,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Phlpp2
|
UTSW |
8 |
110,652,431 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9154:Phlpp2
|
UTSW |
8 |
110,666,590 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9556:Phlpp2
|
UTSW |
8 |
110,666,758 (GRCm39) |
missense |
probably benign |
|
|
R9737:Phlpp2
|
UTSW |
8 |
110,663,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9781:Phlpp2
|
UTSW |
8 |
110,662,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9786:Phlpp2
|
UTSW |
8 |
110,660,655 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Phlpp2
|
UTSW |
8 |
110,639,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCAGTTTAGGGAAAAGTCC -3'
(R):5'- TACTGTGGCAGATGGGAAGC -3'
Sequencing Primer
(F):5'- ACTGGGATTATAGGCATGTACCCC -3'
(R):5'- CAATGGAGATCTCAGGTCTCAGTTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation