Incidental Mutation 'R5570:Phlpp1'
| ID |
435584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phlpp1
|
| Ensembl Gene |
ENSMUSG00000044340 |
| Gene Name |
PH domain and leucine rich repeat protein phosphatase 1 |
| Synonyms |
Plekhe1, Phlpp |
| MMRRC Submission |
043127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5570 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106099599-106321975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106101162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 477
(I477F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
|
| AlphaFold |
Q8CHE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061047
AA Change: I477F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: I477F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
369 |
N/A |
INTRINSIC |
|
PH
|
493 |
594 |
3.16e-2 |
SMART |
|
LRR
|
615 |
634 |
4.75e2 |
SMART |
|
LRR
|
648 |
669 |
7.16e0 |
SMART |
|
LRR
|
669 |
688 |
1.48e1 |
SMART |
|
LRR
|
692 |
714 |
2.14e1 |
SMART |
|
LRR
|
715 |
738 |
1.37e1 |
SMART |
|
LRR
|
786 |
809 |
3.27e1 |
SMART |
|
LRR
|
849 |
868 |
8.11e0 |
SMART |
|
LRR
|
872 |
895 |
1.97e1 |
SMART |
|
LRR
|
895 |
914 |
2.55e1 |
SMART |
|
LRR
|
919 |
940 |
1.86e1 |
SMART |
|
LRR
|
941 |
960 |
1.67e1 |
SMART |
|
LRR
|
991 |
1010 |
2.13e1 |
SMART |
|
LRR
|
1015 |
1038 |
5.11e0 |
SMART |
|
PP2Cc
|
1121 |
1376 |
2.62e-58 |
SMART |
|
low complexity region
|
1393 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1445 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1463 |
1555 |
2e-39 |
BLAST |
|
low complexity region
|
1608 |
1624 |
N/A |
INTRINSIC |
|
low complexity region
|
1640 |
1671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190105
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrv1 |
C |
A |
9: 36,605,577 (GRCm39) |
S41R |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
| Arhgap26 |
C |
A |
18: 39,232,671 (GRCm39) |
D99E |
probably damaging |
Het |
| Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,683,826 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
| Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
| Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
| Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
| Dock2 |
G |
T |
11: 34,618,233 (GRCm39) |
R128S |
probably damaging |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
| Espn |
T |
C |
4: 152,208,237 (GRCm39) |
E460G |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
C |
6: 91,965,668 (GRCm39) |
S476P |
probably damaging |
Het |
| Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
| Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,316,930 (GRCm39) |
R645W |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
| Necap1 |
T |
C |
6: 122,858,471 (GRCm39) |
F105L |
probably damaging |
Het |
| Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,041,298 (GRCm39) |
V812A |
probably damaging |
Het |
| Or10ak7 |
T |
A |
4: 118,791,263 (GRCm39) |
I259F |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
| Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
| Parn |
G |
A |
16: 13,483,794 (GRCm39) |
P50L |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,224 (GRCm39) |
C787R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,920,826 (GRCm39) |
I175N |
probably damaging |
Het |
| Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,908,937 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
| Pmpca |
A |
G |
2: 26,280,553 (GRCm39) |
E133G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,859 (GRCm39) |
I321M |
|
Het |
| Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
| Rara |
C |
G |
11: 98,863,478 (GRCm39) |
R382G |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,728,071 (GRCm39) |
|
probably null |
Het |
| Robo3 |
T |
A |
9: 37,336,571 (GRCm39) |
Y399F |
possibly damaging |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,092,995 (GRCm39) |
M20V |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,308,504 (GRCm39) |
D276G |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,654,268 (GRCm39) |
V128D |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,043 (GRCm39) |
V92E |
possibly damaging |
Het |
| Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
| Utp14b |
G |
A |
1: 78,643,118 (GRCm39) |
D339N |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,235,214 (GRCm39) |
F1259L |
probably benign |
Het |
| Vmn1r115 |
A |
C |
7: 20,578,555 (GRCm39) |
V119G |
possibly damaging |
Het |
| Zc3h12a |
C |
T |
4: 125,014,166 (GRCm39) |
R293H |
probably damaging |
Het |
| Zfp638 |
A |
T |
6: 83,956,170 (GRCm39) |
E1592D |
probably damaging |
Het |
|
| Other mutations in Phlpp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Phlpp1
|
APN |
1 |
106,267,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:Phlpp1
|
APN |
1 |
106,303,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Phlpp1
|
APN |
1 |
106,101,166 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01588:Phlpp1
|
APN |
1 |
106,308,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02145:Phlpp1
|
APN |
1 |
106,317,613 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02417:Phlpp1
|
APN |
1 |
106,320,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02863:Phlpp1
|
APN |
1 |
106,304,027 (GRCm39) |
splice site |
probably null |
|
|
IGL03178:Phlpp1
|
APN |
1 |
106,320,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0400:Phlpp1
|
UTSW |
1 |
106,320,664 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0423:Phlpp1
|
UTSW |
1 |
106,267,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0449:Phlpp1
|
UTSW |
1 |
106,278,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0765:Phlpp1
|
UTSW |
1 |
106,320,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Phlpp1
|
UTSW |
1 |
106,317,395 (GRCm39) |
splice site |
probably null |
|
|
R1394:Phlpp1
|
UTSW |
1 |
106,278,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1395:Phlpp1
|
UTSW |
1 |
106,278,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1428:Phlpp1
|
UTSW |
1 |
106,308,155 (GRCm39) |
splice site |
probably null |
|
|
R1438:Phlpp1
|
UTSW |
1 |
106,101,142 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1521:Phlpp1
|
UTSW |
1 |
106,320,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Phlpp1
|
UTSW |
1 |
106,320,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Phlpp1
|
UTSW |
1 |
106,308,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Phlpp1
|
UTSW |
1 |
106,271,235 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1889:Phlpp1
|
UTSW |
1 |
106,246,580 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2404:Phlpp1
|
UTSW |
1 |
106,100,569 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2942:Phlpp1
|
UTSW |
1 |
106,100,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3774:Phlpp1
|
UTSW |
1 |
106,320,921 (GRCm39) |
small deletion |
probably benign |
|
|
R3832:Phlpp1
|
UTSW |
1 |
106,320,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Phlpp1
|
UTSW |
1 |
106,320,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4086:Phlpp1
|
UTSW |
1 |
106,274,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4112:Phlpp1
|
UTSW |
1 |
106,292,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Phlpp1
|
UTSW |
1 |
106,314,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Phlpp1
|
UTSW |
1 |
106,267,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4908:Phlpp1
|
UTSW |
1 |
106,317,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Phlpp1
|
UTSW |
1 |
106,209,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Phlpp1
|
UTSW |
1 |
106,101,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5352:Phlpp1
|
UTSW |
1 |
106,100,455 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5508:Phlpp1
|
UTSW |
1 |
106,292,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5590:Phlpp1
|
UTSW |
1 |
106,320,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5838:Phlpp1
|
UTSW |
1 |
106,274,862 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Phlpp1
|
UTSW |
1 |
106,291,960 (GRCm39) |
splice site |
probably null |
|
|
R5992:Phlpp1
|
UTSW |
1 |
106,246,723 (GRCm39) |
nonsense |
probably null |
|
|
R6469:Phlpp1
|
UTSW |
1 |
106,214,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Phlpp1
|
UTSW |
1 |
106,314,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6952:Phlpp1
|
UTSW |
1 |
106,100,209 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7101:Phlpp1
|
UTSW |
1 |
106,100,397 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7402:Phlpp1
|
UTSW |
1 |
106,317,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Phlpp1
|
UTSW |
1 |
106,320,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7692:Phlpp1
|
UTSW |
1 |
106,209,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Phlpp1
|
UTSW |
1 |
106,317,603 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7970:Phlpp1
|
UTSW |
1 |
106,101,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Phlpp1
|
UTSW |
1 |
106,320,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8133:Phlpp1
|
UTSW |
1 |
106,100,522 (GRCm39) |
frame shift |
probably null |
|
|
R8224:Phlpp1
|
UTSW |
1 |
106,320,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Phlpp1
|
UTSW |
1 |
106,320,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Phlpp1
|
UTSW |
1 |
106,278,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Phlpp1
|
UTSW |
1 |
106,320,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9257:Phlpp1
|
UTSW |
1 |
106,100,281 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9472:Phlpp1
|
UTSW |
1 |
106,308,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9691:Phlpp1
|
UTSW |
1 |
106,246,699 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGCACTGGCGTGATAG -3'
(R):5'- ACCTTGCAGATTTCAAGAATGC -3'
Sequencing Primer
(F):5'- TCGACTTCGGGGAGGATAC -3'
(R):5'- CTCAATTTAGTACTTGCACAGGCGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation