Incidental Mutation 'R6821:Phlpp1'
| ID |
537596 |
| 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 |
044933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
106099599-106321975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106314174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1182
(S1182R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
|
| AlphaFold |
Q8CHE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061047
AA Change: S1182R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: S1182R
| 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 |
0.0882 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,277,268 (GRCm39) |
I417T |
probably benign |
Het |
| Adamts12 |
A |
C |
15: 11,152,134 (GRCm39) |
K208T |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,922 (GRCm39) |
L582Q |
probably benign |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Ano9 |
A |
T |
7: 140,687,169 (GRCm39) |
F357I |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,189,547 (GRCm39) |
V416A |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,853,659 (GRCm39) |
F1901C |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,855,480 (GRCm39) |
F506I |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,890,463 (GRCm39) |
L292H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,963,712 (GRCm39) |
V891A |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,731,072 (GRCm39) |
S650P |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,085,044 (GRCm39) |
N791Y |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| D630003M21Rik |
A |
C |
2: 158,046,694 (GRCm39) |
L761R |
probably damaging |
Het |
| Draxin |
G |
T |
4: 148,200,148 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Dtx3l |
A |
T |
16: 35,753,430 (GRCm39) |
L392Q |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,855 (GRCm39) |
S389P |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,359,582 (GRCm39) |
N757S |
possibly damaging |
Het |
| Fam228b |
T |
C |
12: 4,813,083 (GRCm39) |
I96V |
probably benign |
Het |
| Gars1 |
A |
G |
6: 55,056,323 (GRCm39) |
E728G |
probably benign |
Het |
| Gldn |
T |
C |
9: 54,246,054 (GRCm39) |
M535T |
probably benign |
Het |
| Gm47985 |
A |
G |
1: 151,058,787 (GRCm39) |
T143A |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,004 (GRCm39) |
T193A |
probably benign |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,438,719 (GRCm39) |
Y1315F |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,099,745 (GRCm39) |
D197G |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,060 (GRCm39) |
I2T |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,274,907 (GRCm39) |
E621G |
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,907 (GRCm39) |
P47S |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,138 (GRCm39) |
K177R |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,818,525 (GRCm39) |
F260S |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,077,723 (GRCm39) |
T573A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,376,845 (GRCm39) |
I3812N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,415,301 (GRCm39) |
N3403S |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,954,535 (GRCm39) |
Q343* |
probably null |
Het |
| Ocstamp |
A |
T |
2: 165,239,842 (GRCm39) |
S115T |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,793 (GRCm39) |
I69F |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,692,070 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,175 (GRCm39) |
N567I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,839,011 (GRCm39) |
V48E |
possibly damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,805 (GRCm39) |
L386Q |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,785 (GRCm39) |
K287E |
possibly damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,874 (GRCm39) |
L23* |
probably null |
Het |
| Rad54b |
A |
G |
4: 11,612,777 (GRCm39) |
D803G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,354,400 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
C |
T |
8: 95,362,059 (GRCm39) |
Q113* |
probably null |
Het |
| Siah2 |
T |
A |
3: 58,599,191 (GRCm39) |
S16C |
probably benign |
Het |
| Sirpa |
C |
A |
2: 129,472,017 (GRCm39) |
D481E |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,571,548 (GRCm39) |
D227E |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,220,151 (GRCm39) |
V438A |
probably benign |
Het |
| Spast |
A |
G |
17: 74,658,957 (GRCm39) |
E108G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,547 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Tanc2 |
T |
G |
11: 105,777,316 (GRCm39) |
|
probably null |
Het |
| Tgfbi |
T |
C |
13: 56,773,950 (GRCm39) |
I243T |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,685 (GRCm39) |
S522G |
possibly damaging |
Het |
| Trav14-3 |
A |
G |
14: 54,000,929 (GRCm39) |
I47V |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,760,906 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttl |
G |
A |
2: 128,910,835 (GRCm39) |
R73H |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,317,491 (GRCm39) |
T850I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,491 (GRCm39) |
Y140C |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,843,659 (GRCm39) |
R62G |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,577,331 (GRCm39) |
Y461N |
probably damaging |
Het |
| Wt1 |
T |
A |
2: 105,002,612 (GRCm39) |
F493I |
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 |
|
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 |
|
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'- AGACAGTCCAGGCTCTGTTC -3'
(R):5'- CTGTGATCACAAGGCACCAG -3'
Sequencing Primer
(F):5'- GTTCACCCAACCTCCTGGAG -3'
(R):5'- GGCACCAGCTTTTCTAGTAAGAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation