Incidental Mutation 'R1650:Phlpp2'
ID |
174188 |
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 |
039686-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R1650 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 110660587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
AlphaFold |
Q8BXA7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034175
|
SMART Domains |
Protein: ENSMUSP00000034175 Gene: ENSMUSG00000031732
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: ENSMUST00000149990
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179721
|
SMART Domains |
Protein: ENSMUSP00000136166 Gene: ENSMUSG00000031732
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.0%
- 20x: 83.4%
|
Validation Efficiency |
99% (86/87) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
G |
2: 103,532,747 (GRCm39) |
V515G |
probably damaging |
Het |
Ark2c |
A |
C |
18: 77,550,113 (GRCm39) |
|
probably null |
Het |
Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,704,620 (GRCm39) |
|
probably benign |
Het |
Bag4 |
T |
A |
8: 26,267,452 (GRCm39) |
Q126L |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,661,498 (GRCm39) |
D199G |
probably damaging |
Het |
Cfhr3 |
A |
G |
1: 139,521,564 (GRCm39) |
|
noncoding transcript |
Het |
Clca3a2 |
T |
A |
3: 144,797,973 (GRCm39) |
H164L |
probably damaging |
Het |
Col5a1 |
C |
A |
2: 27,812,171 (GRCm39) |
S84R |
unknown |
Het |
Ctsc |
T |
A |
7: 87,930,634 (GRCm39) |
L71* |
probably null |
Het |
Cyp2c70 |
A |
G |
19: 40,153,921 (GRCm39) |
Y223H |
probably benign |
Het |
Dbt |
A |
G |
3: 116,328,381 (GRCm39) |
|
probably null |
Het |
Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,161,611 (GRCm39) |
S398P |
probably damaging |
Het |
Dyrk4 |
T |
C |
6: 126,876,792 (GRCm39) |
K62E |
probably benign |
Het |
Fgf22 |
A |
T |
10: 79,591,023 (GRCm39) |
Y24F |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,440,595 (GRCm39) |
R239G |
probably benign |
Het |
Gm11360 |
C |
T |
13: 28,140,379 (GRCm39) |
A81V |
unknown |
Het |
Htr5b |
T |
A |
1: 121,455,891 (GRCm39) |
T10S |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,233,583 (GRCm39) |
R1717G |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,687,767 (GRCm39) |
V556D |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,942,168 (GRCm39) |
V553A |
possibly damaging |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lca5l |
T |
C |
16: 95,980,140 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,750,639 (GRCm39) |
W171R |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,445,732 (GRCm39) |
Y1027C |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,350,393 (GRCm39) |
Y1702* |
probably null |
Het |
Mon2 |
T |
C |
10: 122,831,682 (GRCm39) |
I1675V |
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,692,871 (GRCm39) |
K486M |
probably damaging |
Het |
Nek1 |
A |
T |
8: 61,489,110 (GRCm39) |
H338L |
probably benign |
Het |
Ola1 |
A |
T |
2: 72,987,238 (GRCm39) |
D131E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,484,052 (GRCm39) |
M7L |
probably benign |
Het |
Or1f12 |
T |
C |
13: 21,721,249 (GRCm39) |
N294D |
probably damaging |
Het |
Or4k36 |
C |
T |
2: 111,146,640 (GRCm39) |
A272V |
probably benign |
Het |
Or5t18 |
A |
T |
2: 86,637,091 (GRCm39) |
M84K |
possibly damaging |
Het |
Or5w10 |
C |
A |
2: 87,375,772 (GRCm39) |
V39L |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,943 (GRCm39) |
F62L |
possibly damaging |
Het |
Or9m2 |
C |
T |
2: 87,821,145 (GRCm39) |
A230V |
probably benign |
Het |
Pan2 |
G |
A |
10: 128,153,768 (GRCm39) |
E980K |
probably damaging |
Het |
Pgm1 |
C |
A |
4: 99,819,276 (GRCm39) |
Q149K |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,819,267 (GRCm39) |
K146E |
possibly damaging |
Het |
Plekhs1 |
G |
T |
19: 56,459,474 (GRCm39) |
G75C |
probably damaging |
Het |
Plin4 |
G |
A |
17: 56,411,931 (GRCm39) |
T700I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,901 (GRCm39) |
P71L |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,745,964 (GRCm39) |
V579D |
probably damaging |
Het |
Poteg |
A |
G |
8: 27,953,813 (GRCm39) |
D318G |
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,010,878 (GRCm39) |
D554E |
probably damaging |
Het |
Proser3 |
G |
A |
7: 30,239,751 (GRCm39) |
A451V |
probably damaging |
Het |
Shld2 |
T |
A |
14: 33,981,574 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,211,366 (GRCm39) |
|
probably benign |
Het |
Syce1 |
C |
A |
7: 140,358,300 (GRCm39) |
C216F |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,951,033 (GRCm39) |
K395* |
probably null |
Het |
Trim28 |
G |
A |
7: 12,764,776 (GRCm39) |
G831D |
possibly damaging |
Het |
Tyw1 |
A |
G |
5: 130,317,752 (GRCm39) |
I434V |
possibly damaging |
Het |
Ubox5 |
G |
A |
2: 130,442,345 (GRCm39) |
A114V |
probably benign |
Het |
Ubqln3 |
C |
T |
7: 103,790,228 (GRCm39) |
V621I |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,079,052 (GRCm39) |
D1543G |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
C |
A |
13: 32,989,362 (GRCm39) |
H283Q |
probably benign |
Het |
Zan |
A |
T |
5: 137,392,863 (GRCm39) |
|
probably benign |
Het |
Zcchc10 |
A |
T |
11: 53,218,229 (GRCm39) |
K1* |
probably null |
Het |
Zfp592 |
T |
A |
7: 80,687,848 (GRCm39) |
S925T |
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 |
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 |
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'- GCCCATGAATATGGCTGAATCCCC -3'
(R):5'- AGGTTAAAATGTGACCTCTGCCACC -3'
Sequencing Primer
(F):5'- CCCCTTTTCTTCAGAGATAAAGAGTG -3'
(R):5'- atcctcctgcctctgcc -3'
|
Posted On |
2014-04-24 |