Incidental Mutation 'R6469:Phlpp1'
ID |
520235 |
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 |
044602-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R6469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
106099599-106321975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106214833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 585
(R585Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
|
AlphaFold |
Q8CHE4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061047
AA Change: R585Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056530 Gene: ENSMUSG00000044340 AA Change: R585Q
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: ENSMUST00000135810
|
Meta Mutation Damage Score |
0.3828 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
Validation Efficiency |
100% (43/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
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 |
|
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'- TGCAAGAATGGCTGCAAGTTC -3'
(R):5'- TACTGACCTAAAACTGGTGGGAG -3'
Sequencing Primer
(F):5'- TGGCTGCAAGTTCTAAGAGG -3'
(R):5'- AAAACTGGTGGGAGGTGTTAATTTTC -3'
|
Posted On |
2018-06-06 |