Incidental Mutation 'R1428:Phlpp1'
ID |
161375 |
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 |
039484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R1428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
106099599-106321975 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 106308155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
[ENSMUST00000061047]
|
AlphaFold |
Q8CHE4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061047
|
SMART Domains |
Protein: ENSMUSP00000056530 Gene: ENSMUSG00000044340
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 |
probably null
Transcript: ENSMUST00000061047
|
SMART Domains |
Protein: ENSMUSP00000056530 Gene: ENSMUSG00000044340
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
Validation Efficiency |
98% (56/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
Acbd5 |
T |
C |
2: 22,989,733 (GRCm39) |
V452A |
probably damaging |
Het |
Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
Atad3a |
T |
A |
4: 155,840,139 (GRCm39) |
Q121H |
probably damaging |
Het |
Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
Mmp15 |
C |
G |
8: 96,096,190 (GRCm39) |
P327R |
probably benign |
Het |
Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
Olfm4 |
T |
A |
14: 80,258,843 (GRCm39) |
Y331N |
probably damaging |
Het |
Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
Pacsin1 |
C |
T |
17: 27,924,937 (GRCm39) |
T217I |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
probably benign |
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 |
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 |
R5570:Phlpp1
|
UTSW |
1 |
106,101,162 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GAAAACAGTCTTTGTGCCACAGCC -3'
(R):5'- AGCCTGGTGCTTAAACATTGAGGAG -3'
Sequencing Primer
(F):5'- GCAGTGTCCTCTCTCAGGTAAAG -3'
(R):5'- CTTAAACATTGAGGAGTGAGCC -3'
|
Posted On |
2014-03-14 |