Incidental Mutation 'R0144:Phlpp2'
| ID |
60798 |
| 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 |
038429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0144 (G1)
|
| Quality Score |
207 |
|
Status
|
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: 87.0%
|
| Validation Efficiency |
100% (90/90) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,652,739 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
A |
3: 97,073,145 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,780,224 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,109,233 (GRCm39) |
I674V |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
G |
C |
18: 64,704,445 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,737,839 (GRCm39) |
N1823K |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,416,947 (GRCm39) |
S396T |
probably damaging |
Het |
| Btnl6 |
G |
T |
17: 34,732,994 (GRCm39) |
R290S |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,643,797 (GRCm39) |
R957G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,656,417 (GRCm39) |
L132P |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Ceacam15 |
G |
T |
7: 16,407,116 (GRCm39) |
H134N |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,620,161 (GRCm39) |
I46V |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,441,902 (GRCm39) |
D722G |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,907,243 (GRCm39) |
D628V |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,441,838 (GRCm39) |
V342E |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,652 (GRCm39) |
V64A |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,971,934 (GRCm39) |
G1345V |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,989,831 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,023,735 (GRCm39) |
G1142D |
probably benign |
Het |
| Etv2 |
C |
A |
7: 30,334,308 (GRCm39) |
A142S |
probably benign |
Het |
| Fam110c |
C |
A |
12: 31,124,500 (GRCm39) |
T154K |
unknown |
Het |
| Fbxo17 |
C |
G |
7: 28,434,765 (GRCm39) |
D183E |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,170,964 (GRCm39) |
W681R |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,045 (GRCm39) |
Y413H |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,511,830 (GRCm39) |
|
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,510,411 (GRCm39) |
M1T |
probably null |
Het |
| H2-M10.6 |
G |
A |
17: 37,123,133 (GRCm39) |
C22Y |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,889,751 (GRCm39) |
D2432G |
probably damaging |
Het |
| Il13 |
T |
C |
11: 53,524,003 (GRCm39) |
D60G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,668 (GRCm39) |
L479P |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,228,653 (GRCm39) |
Q1314L |
probably damaging |
Het |
| Jrk |
C |
T |
15: 74,578,005 (GRCm39) |
G427S |
probably benign |
Het |
| Kcnb1 |
T |
G |
2: 166,946,467 (GRCm39) |
N794H |
probably damaging |
Het |
| Klhl8 |
A |
T |
5: 104,015,804 (GRCm39) |
S361R |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,542 (GRCm39) |
Y37C |
probably benign |
Het |
| Lbp |
A |
T |
2: 158,161,630 (GRCm39) |
S231C |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,532,071 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,805 (GRCm39) |
|
probably null |
Het |
| Lypd11 |
A |
G |
7: 24,423,015 (GRCm39) |
V101A |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,340,719 (GRCm39) |
M81T |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,316,849 (GRCm39) |
T618A |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,389,080 (GRCm39) |
D128G |
probably damaging |
Het |
| Mix23 |
A |
T |
16: 35,905,484 (GRCm39) |
N92I |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,047,970 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,798,687 (GRCm39) |
Q901L |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,608,948 (GRCm39) |
R640G |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,647,251 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,283,421 (GRCm39) |
N422S |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,953 (GRCm39) |
Y88N |
probably damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,315,162 (GRCm39) |
A358T |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,747 (GRCm39) |
I216F |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,178 (GRCm39) |
I258V |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,798,107 (GRCm39) |
N431D |
probably benign |
Het |
| Prss28 |
G |
A |
17: 25,528,424 (GRCm39) |
V16M |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,480,975 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
A |
T |
12: 98,654,868 (GRCm39) |
S700T |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,474,072 (GRCm39) |
V152D |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,153,447 (GRCm39) |
R2286S |
probably damaging |
Het |
| Rflnb |
G |
T |
11: 75,915,789 (GRCm39) |
P102Q |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,718,559 (GRCm39) |
V680I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,370,426 (GRCm39) |
K4742* |
probably null |
Het |
| Rpp40 |
A |
T |
13: 36,085,352 (GRCm39) |
S143T |
probably benign |
Het |
| Rps12 |
A |
G |
10: 23,662,689 (GRCm39) |
I51T |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,285,614 (GRCm39) |
W109R |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,176,615 (GRCm39) |
|
probably null |
Het |
| Tspan5 |
G |
T |
3: 138,604,109 (GRCm39) |
V165L |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,052,291 (GRCm39) |
V385E |
probably benign |
Het |
| Vma21-ps |
T |
A |
4: 52,497,231 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,440 (GRCm39) |
N132I |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,991,665 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,655,671 (GRCm39) |
K766R |
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 |
|
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 |
Incidental Mutation