Incidental Mutation 'R0142:Phlpp2'
ID |
60948 |
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 |
038427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R0142 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110634145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 242
(R242W)
|
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: R207W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034175 Gene: ENSMUSG00000031732 AA Change: R207W
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: R242W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136166 Gene: ENSMUSG00000031732 AA Change: R242W
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 |
0.3594 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.6%
|
Validation Efficiency |
92% (61/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
G |
11: 110,079,467 (GRCm39) |
D1229A |
probably damaging |
Het |
Abhd8 |
A |
C |
8: 71,914,506 (GRCm39) |
F41V |
probably damaging |
Het |
Ago4 |
T |
G |
4: 126,410,725 (GRCm39) |
E222A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,122,828 (GRCm39) |
I470V |
probably damaging |
Het |
Bcl9l |
C |
T |
9: 44,418,409 (GRCm39) |
T749M |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,761,200 (GRCm39) |
K937E |
probably damaging |
Het |
Bmi1 |
G |
A |
2: 18,688,095 (GRCm39) |
|
probably null |
Het |
Boc |
A |
C |
16: 44,310,604 (GRCm39) |
I772S |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,654 (GRCm39) |
S1347P |
possibly damaging |
Het |
C2 |
T |
A |
17: 35,092,504 (GRCm39) |
I178F |
possibly damaging |
Het |
Cacna1c |
G |
T |
6: 118,580,843 (GRCm39) |
A1416E |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,910,810 (GRCm39) |
L118P |
probably damaging |
Het |
Crybg1 |
G |
A |
10: 43,875,059 (GRCm39) |
T683I |
possibly damaging |
Het |
Cul5 |
C |
T |
9: 53,546,350 (GRCm39) |
V314I |
probably damaging |
Het |
Dnajc17 |
C |
A |
2: 119,010,415 (GRCm39) |
R211I |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,071,264 (GRCm39) |
T16A |
probably benign |
Het |
Ercc6l2 |
A |
C |
13: 64,020,320 (GRCm39) |
|
probably benign |
Het |
Fsd2 |
T |
A |
7: 81,209,683 (GRCm39) |
D53V |
probably damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,615 (GRCm39) |
D479G |
probably damaging |
Het |
Grk3 |
A |
T |
5: 113,062,919 (GRCm39) |
W643R |
probably damaging |
Het |
Hdgf |
G |
A |
3: 87,820,416 (GRCm39) |
A4T |
possibly damaging |
Het |
Hnrnpr |
T |
A |
4: 136,054,593 (GRCm39) |
V182E |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,766 (GRCm39) |
L279R |
probably damaging |
Het |
Itga9 |
C |
A |
9: 118,465,654 (GRCm39) |
N169K |
probably damaging |
Het |
Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
Jph4 |
G |
T |
14: 55,345,783 (GRCm39) |
Q625K |
probably benign |
Het |
Kctd3 |
A |
C |
1: 188,728,595 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
T |
1: 178,742,954 (GRCm39) |
S570C |
probably damaging |
Het |
Klhl5 |
G |
A |
5: 65,300,693 (GRCm39) |
W164* |
probably null |
Het |
Lacc1 |
A |
T |
14: 77,268,239 (GRCm39) |
H357Q |
probably benign |
Het |
Lama2 |
A |
G |
10: 27,063,841 (GRCm39) |
I1316T |
probably benign |
Het |
Lcp2 |
C |
T |
11: 34,032,418 (GRCm39) |
P332L |
probably damaging |
Het |
Map3k6 |
A |
T |
4: 132,978,257 (GRCm39) |
H1033L |
probably benign |
Het |
Mfsd2b |
A |
G |
12: 4,916,234 (GRCm39) |
V252A |
probably benign |
Het |
Myo16 |
T |
A |
8: 10,619,790 (GRCm39) |
I1447N |
probably benign |
Het |
Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
Myo5a |
C |
T |
9: 75,067,856 (GRCm39) |
H637Y |
probably benign |
Het |
Nek10 |
C |
T |
14: 14,861,560 (GRCm38) |
R539C |
possibly damaging |
Het |
Nfix |
A |
T |
8: 85,448,315 (GRCm39) |
V404E |
probably damaging |
Het |
Nr1i2 |
T |
C |
16: 38,073,368 (GRCm39) |
R203G |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,079,420 (GRCm39) |
G968D |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,619 (GRCm39) |
I50F |
probably benign |
Het |
Or2ag15 |
G |
T |
7: 106,340,972 (GRCm39) |
H56Q |
probably benign |
Het |
Or8b37 |
A |
T |
9: 37,959,406 (GRCm39) |
H296L |
probably benign |
Het |
Plcz1 |
A |
G |
6: 139,953,423 (GRCm39) |
F398S |
probably damaging |
Het |
Ppfibp2 |
C |
A |
7: 107,343,384 (GRCm39) |
P808T |
probably damaging |
Het |
Srpk2 |
T |
C |
5: 23,732,928 (GRCm39) |
K239E |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,118,232 (GRCm39) |
V830A |
probably benign |
Het |
Tesc |
A |
T |
5: 118,194,635 (GRCm39) |
I149F |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,418,334 (GRCm39) |
W632R |
probably damaging |
Het |
Tmprss9 |
A |
G |
10: 80,730,212 (GRCm39) |
D704G |
possibly damaging |
Het |
Tob1 |
T |
C |
11: 94,105,423 (GRCm39) |
Y320H |
probably damaging |
Het |
Trpm3 |
G |
T |
19: 22,965,280 (GRCm39) |
D1582Y |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,425,323 (GRCm39) |
K1716R |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,724,925 (GRCm39) |
V205A |
probably benign |
Het |
Usp29 |
G |
A |
7: 6,965,334 (GRCm39) |
M392I |
probably benign |
Het |
Uspl1 |
A |
T |
5: 149,125,159 (GRCm39) |
Y22F |
possibly damaging |
Het |
Virma |
C |
A |
4: 11,548,783 (GRCm39) |
N1780K |
probably benign |
Het |
Vmn1r56 |
C |
T |
7: 5,199,372 (GRCm39) |
A82T |
probably benign |
Het |
Vmn2r5 |
A |
T |
3: 64,400,009 (GRCm39) |
C553S |
probably damaging |
Het |
Vwce |
A |
T |
19: 10,641,976 (GRCm39) |
R901W |
probably damaging |
Het |
Wdpcp |
C |
A |
11: 21,807,444 (GRCm39) |
|
probably null |
Het |
Zfp423 |
A |
T |
8: 88,506,968 (GRCm39) |
C1000* |
probably null |
Het |
Zscan20 |
A |
G |
4: 128,479,630 (GRCm39) |
F954L |
probably benign |
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 |
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 |
R2045:Phlpp2
|
UTSW |
8 |
110,634,232 (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'- GCTGGTCTGCCAAGATTCAGAAGC -3'
(R):5'- GATGGTCACTTGCTGCTACATCCTC -3'
Sequencing Primer
(F):5'- catgtacccccacatccag -3'
(R):5'- GCTACATCCTCATCTCTATCCAAG -3'
|
Posted On |
2013-07-24 |