Incidental Mutation 'R1889:Phlpp1'
ID 209787
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 039910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R1889 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106099599-106321975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106246580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 590 (V590A)
Ref Sequence ENSEMBL: ENSMUSP00000056530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061047]
AlphaFold Q8CHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061047
AA Change: V590A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: V590A

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: ENSMUST00000124895
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign 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
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
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'- TCATTGCGTTCTTCGGAGCC -3'
(R):5'- GAGATTCTAGCGCTTGTGCAG -3'

Sequencing Primer
(F):5'- CGTTCTTCGGAGCCCTGTG -3'
(R):5'- CGCTTGTGCAGGCTCAC -3'
Posted On 2014-06-30