Incidental Mutation 'R1588:Phlpp1'
| ID |
177613 |
| 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 |
039625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R1588 (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 G
at 106308115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1131
(S1131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
|
| AlphaFold |
Q8CHE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061047
AA Change: S1131G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: S1131G
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Adamts13 |
A |
T |
2: 26,865,687 (GRCm39) |
I81F |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,747,685 (GRCm39) |
N1567K |
possibly damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,391,484 (GRCm39) |
T261M |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,959,999 (GRCm39) |
I326V |
probably benign |
Het |
| Casp8ap2 |
G |
A |
4: 32,640,541 (GRCm39) |
A532T |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,019,337 (GRCm39) |
T187A |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,917,039 (GRCm39) |
N359D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,748,184 (GRCm39) |
L82P |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,440,444 (GRCm39) |
R404S |
probably benign |
Het |
| Chrng |
C |
A |
1: 87,135,229 (GRCm39) |
F179L |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,391 (GRCm39) |
I326K |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,002 (GRCm39) |
T243A |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,715,900 (GRCm39) |
V1502A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,640 (GRCm39) |
V216A |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,174,230 (GRCm39) |
V2161G |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,161,034 (GRCm39) |
T2169A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,196,043 (GRCm39) |
V581A |
unknown |
Het |
| Hip1r |
A |
T |
5: 124,134,638 (GRCm39) |
D350V |
probably damaging |
Het |
| Ift140 |
G |
A |
17: 25,306,959 (GRCm39) |
R898H |
probably damaging |
Het |
| Il12a |
A |
G |
3: 68,602,896 (GRCm39) |
I159V |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,955,488 (GRCm39) |
E1032G |
possibly damaging |
Het |
| Kl |
A |
G |
5: 150,906,097 (GRCm39) |
E489G |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,161,712 (GRCm39) |
E461G |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,313,404 (GRCm39) |
Y177C |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,031 (GRCm39) |
Y187N |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,167,785 (GRCm39) |
V1002A |
probably benign |
Het |
| Ntaq1 |
T |
A |
15: 58,021,285 (GRCm39) |
|
probably null |
Het |
| Ntrk1 |
A |
T |
3: 87,687,384 (GRCm39) |
Y683* |
probably null |
Het |
| Or11g26 |
A |
G |
14: 50,753,584 (GRCm39) |
I308V |
probably benign |
Het |
| Or13j1 |
C |
T |
4: 43,705,923 (GRCm39) |
C215Y |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or8k21 |
T |
C |
2: 86,144,874 (GRCm39) |
Y252C |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,560 (GRCm39) |
V367A |
probably benign |
Het |
| Phip |
A |
G |
9: 82,782,881 (GRCm39) |
W855R |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,442 (GRCm39) |
V1498E |
probably benign |
Het |
| Pramel22 |
G |
T |
4: 143,382,121 (GRCm39) |
L192M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,420 (GRCm39) |
N152D |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,558 (GRCm39) |
V732M |
probably damaging |
Het |
| Rccd1 |
C |
T |
7: 79,969,859 (GRCm39) |
W223* |
probably null |
Het |
| Riox2 |
T |
A |
16: 59,295,946 (GRCm39) |
S16T |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,350,367 (GRCm39) |
V836I |
probably damaging |
Het |
| Serpinf1 |
G |
A |
11: 75,301,076 (GRCm39) |
R380C |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,040,488 (GRCm39) |
C134S |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,785,924 (GRCm39) |
C123* |
probably null |
Het |
| Slc16a13 |
G |
T |
11: 70,109,421 (GRCm39) |
S360* |
probably null |
Het |
| Srr |
A |
G |
11: 74,799,629 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,873,565 (GRCm39) |
F607L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,539,870 (GRCm39) |
D34372G |
probably benign |
Het |
| Tub |
C |
T |
7: 108,628,888 (GRCm39) |
T401I |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,493,693 (GRCm39) |
E9G |
probably damaging |
Het |
| Yipf3 |
T |
A |
17: 46,561,787 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,460,791 (GRCm39) |
R447K |
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 |
|
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 |
|
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'- CATTATCAGTGTAAGGCACCTGAG -3'
(R):5'- CTTAAACATTGAGGAGTGAGCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation