Incidental Mutation 'R1438:Phlpp1'
ID 160744
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 039493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106099599-106321975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106101142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 470 (D470G)
Ref Sequence ENSEMBL: ENSMUSP00000056530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061047]
AlphaFold Q8CHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061047
AA Change: D470G

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: D470G

DomainStartEndE-ValueType
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: ENSMUST00000190105
Meta Mutation Damage Score 0.1164 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging Het
Other mutations in Phlpp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAAGACATCTCCGCCCTCCCTGTATG -3'
(R):5'- GTTACCTGGAATCCCAAAACGCCTG -3'

Sequencing Primer
(F):5'- TTCCAACTGGGATTTGGGGA -3'
(R):5'- GGCCTGGACACTCTAAACCTTG -3'
Posted On 2014-03-14