Incidental Mutation 'IGL03366:Phlpp2'
| ID |
420100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phlpp2
|
| Ensembl Gene |
ENSMUSG00000031732 |
| Gene Name |
PH domain and leucine rich repeat protein phosphatase 2 |
| Synonyms |
C130044A18Rik, Phlppl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
109868542-109944671 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109940835 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1332
(E1332G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
| AlphaFold |
Q8BXA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034175
AA Change: E1297G
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: E1297G
| 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 |
probably benign
Transcript: ENSMUST00000179721
AA Change: E1332G
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: E1332G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,629,273 (GRCm38) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,508,179 (GRCm38) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,457,151 (GRCm38) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,583,389 (GRCm38) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,413,715 (GRCm38) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 107,005,433 (GRCm38) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,356,957 (GRCm38) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,377,797 (GRCm38) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,907,580 (GRCm38) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,267,363 (GRCm38) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,294,140 (GRCm38) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,500,554 (GRCm38) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,837,495 (GRCm38) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,764,623 (GRCm38) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,783,380 (GRCm38) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,427,610 (GRCm38) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,544,677 (GRCm38) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 104,855,528 (GRCm38) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 70,781,563 (GRCm38) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 101,278,089 (GRCm38) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm38) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,648,082 (GRCm38) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,183,523 (GRCm38) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,572,568 (GRCm38) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,250,256 (GRCm38) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,418,243 (GRCm38) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,498,612 (GRCm38) |
T487A |
possibly damaging |
Het |
| Pick1 |
T |
C |
15: 79,241,281 (GRCm38) |
S113P |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,779,867 (GRCm38) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 94,650,334 (GRCm38) |
I382L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 110,839,954 (GRCm38) |
V248G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,346,452 (GRCm38) |
Y126* |
probably null |
Het |
| Spin1 |
T |
C |
13: 51,127,937 (GRCm38) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 31,150,263 (GRCm38) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,963,700 (GRCm38) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 24,037,915 (GRCm38) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,935,054 (GRCm38) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,437,233 (GRCm38) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 104,260,933 (GRCm38) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,029,604 (GRCm38) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,464,030 (GRCm38) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,426,459 (GRCm38) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,946,026 (GRCm38) |
S2467L |
probably benign |
Het |
|
| Other mutations in Phlpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Phlpp2
|
APN |
8 |
109,925,790 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01363:Phlpp2
|
APN |
8 |
109,937,097 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01535:Phlpp2
|
APN |
8 |
109,934,065 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01815:Phlpp2
|
APN |
8 |
109,939,859 (GRCm38) |
missense |
probably benign |
|
|
IGL02105:Phlpp2
|
APN |
8 |
109,904,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02257:Phlpp2
|
APN |
8 |
109,920,099 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02318:Phlpp2
|
APN |
8 |
109,939,873 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02500:Phlpp2
|
APN |
8 |
109,913,618 (GRCm38) |
missense |
probably benign |
|
|
IGL03356:Phlpp2
|
APN |
8 |
109,935,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0142:Phlpp2
|
UTSW |
8 |
109,907,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0144:Phlpp2
|
UTSW |
8 |
109,907,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0374:Phlpp2
|
UTSW |
8 |
109,907,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0420:Phlpp2
|
UTSW |
8 |
109,939,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0426:Phlpp2
|
UTSW |
8 |
109,928,463 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0477:Phlpp2
|
UTSW |
8 |
109,895,506 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0529:Phlpp2
|
UTSW |
8 |
109,876,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0605:Phlpp2
|
UTSW |
8 |
109,933,211 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0655:Phlpp2
|
UTSW |
8 |
109,895,587 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0833:Phlpp2
|
UTSW |
8 |
109,937,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0836:Phlpp2
|
UTSW |
8 |
109,937,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1394:Phlpp2
|
UTSW |
8 |
109,877,030 (GRCm38) |
nonsense |
probably null |
|
|
R1417:Phlpp2
|
UTSW |
8 |
109,940,681 (GRCm38) |
nonsense |
probably null |
|
|
R1602:Phlpp2
|
UTSW |
8 |
109,934,023 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1650:Phlpp2
|
UTSW |
8 |
109,933,955 (GRCm38) |
splice site |
probably benign |
|
|
R1815:Phlpp2
|
UTSW |
8 |
109,940,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2045:Phlpp2
|
UTSW |
8 |
109,907,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2072:Phlpp2
|
UTSW |
8 |
109,928,492 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2074:Phlpp2
|
UTSW |
8 |
109,928,492 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2075:Phlpp2
|
UTSW |
8 |
109,928,492 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2433:Phlpp2
|
UTSW |
8 |
109,940,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3028:Phlpp2
|
UTSW |
8 |
109,907,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4611:Phlpp2
|
UTSW |
8 |
109,876,883 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4718:Phlpp2
|
UTSW |
8 |
109,940,820 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4739:Phlpp2
|
UTSW |
8 |
109,940,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Phlpp2
|
UTSW |
8 |
109,877,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5020:Phlpp2
|
UTSW |
8 |
109,940,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5047:Phlpp2
|
UTSW |
8 |
109,913,619 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5074:Phlpp2
|
UTSW |
8 |
109,925,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5330:Phlpp2
|
UTSW |
8 |
109,934,035 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5663:Phlpp2
|
UTSW |
8 |
109,904,344 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5668:Phlpp2
|
UTSW |
8 |
109,928,573 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6433:Phlpp2
|
UTSW |
8 |
109,934,685 (GRCm38) |
missense |
probably benign |
|
|
R6470:Phlpp2
|
UTSW |
8 |
109,937,194 (GRCm38) |
missense |
probably benign |
0.45 |
|
R6804:Phlpp2
|
UTSW |
8 |
109,928,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7012:Phlpp2
|
UTSW |
8 |
109,876,854 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7183:Phlpp2
|
UTSW |
8 |
109,939,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7257:Phlpp2
|
UTSW |
8 |
109,940,188 (GRCm38) |
missense |
probably benign |
|
|
R7312:Phlpp2
|
UTSW |
8 |
109,940,153 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7349:Phlpp2
|
UTSW |
8 |
109,928,646 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7801:Phlpp2
|
UTSW |
8 |
109,925,842 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8059:Phlpp2
|
UTSW |
8 |
109,895,557 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8174:Phlpp2
|
UTSW |
8 |
109,868,689 (GRCm38) |
missense |
unknown |
|
|
R8242:Phlpp2
|
UTSW |
8 |
109,940,202 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8488:Phlpp2
|
UTSW |
8 |
109,913,570 (GRCm38) |
missense |
probably benign |
|
|
R8688:Phlpp2
|
UTSW |
8 |
109,904,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8843:Phlpp2
|
UTSW |
8 |
109,925,799 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9154:Phlpp2
|
UTSW |
8 |
109,939,958 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9556:Phlpp2
|
UTSW |
8 |
109,940,126 (GRCm38) |
missense |
probably benign |
|
|
R9737:Phlpp2
|
UTSW |
8 |
109,937,082 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9781:Phlpp2
|
UTSW |
8 |
109,935,546 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9786:Phlpp2
|
UTSW |
8 |
109,934,023 (GRCm38) |
nonsense |
probably null |
|
|
X0018:Phlpp2
|
UTSW |
8 |
109,912,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation