Incidental Mutation 'R5508:Phlpp1'
| ID |
431016 |
| 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 |
043069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R5508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106099599-106321975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106292120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 993
(R993L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061047]
|
| AlphaFold |
Q8CHE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061047
AA Change: R993L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: R993L
| 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: 98.4%
- 3x: 97.4%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,431,633 (GRCm39) |
D344G |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,534,649 (GRCm39) |
F300I |
probably damaging |
Het |
| BC016579 |
T |
A |
16: 45,453,369 (GRCm39) |
T149S |
possibly damaging |
Het |
| Bcl6b |
A |
T |
11: 70,116,919 (GRCm39) |
H453Q |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Clec4b2 |
A |
G |
6: 123,150,001 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,823,207 (GRCm39) |
C396F |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,146 (GRCm38) |
V253A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,237,516 (GRCm39) |
*241W |
probably null |
Het |
| Flvcr1 |
C |
T |
1: 190,757,656 (GRCm39) |
G212D |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,178,199 (GRCm39) |
L36* |
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,331,805 (GRCm39) |
C4* |
probably null |
Het |
| Kit |
G |
T |
5: 75,810,208 (GRCm39) |
C786F |
probably damaging |
Het |
| Klf14 |
T |
C |
6: 30,934,977 (GRCm39) |
H219R |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,200,248 (GRCm39) |
V122A |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,221,868 (GRCm39) |
A1557V |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,441,479 (GRCm39) |
K1162N |
probably benign |
Het |
| Mtmr11 |
G |
A |
3: 96,071,084 (GRCm39) |
R147Q |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,902,444 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,434,179 (GRCm39) |
L48F |
probably damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,742,001 (GRCm39) |
D310N |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,266,488 (GRCm39) |
P21S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,522,092 (GRCm39) |
V620L |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,315,827 (GRCm39) |
D2182E |
probably damaging |
Het |
| Sass6 |
G |
A |
3: 116,413,752 (GRCm39) |
R485K |
probably benign |
Het |
| Scoc |
A |
T |
8: 84,162,571 (GRCm39) |
S68T |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,844,678 (GRCm39) |
L114I |
probably damaging |
Het |
| Ss18l1 |
C |
G |
2: 179,699,446 (GRCm39) |
Q215E |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,796,143 (GRCm39) |
N368S |
probably benign |
Het |
| Trim80 |
T |
A |
11: 115,335,904 (GRCm39) |
S275R |
probably benign |
Het |
| Tubb5 |
T |
C |
17: 36,145,962 (GRCm39) |
N416S |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,059 (GRCm39) |
M395K |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,242 (GRCm39) |
M285K |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,645 (GRCm39) |
I1008V |
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 |
|
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 |
|
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'- ATGGACTTTCCTGCATTGTGTC -3'
(R):5'- CCAATGCAGTTGTAAGGGAATAC -3'
Sequencing Primer
(F):5'- GTGTCTCTGCAGCCTGAGATTC -3'
(R):5'- ATGCAGTTGTAAGGGAATACTTTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation