Incidental Mutation 'R5590:Phlpp1'
ID 437396
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 043143-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R5590 (G1)
Quality Score 191
Status Validated
Chromosome 1
Chromosomal Location 106099599-106321975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106320657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1551 (I1551F)
Ref Sequence ENSEMBL: ENSMUSP00000056530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061047]
AlphaFold Q8CHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061047
AA Change: I1551F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: I1551F

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
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik T G 4: 124,504,280 (GRCm39) M91L unknown Het
A2m C T 6: 121,653,891 (GRCm39) T1408M probably damaging Het
Abca16 C T 7: 120,143,995 (GRCm39) T1671M probably damaging Het
Adamts8 A T 9: 30,862,632 (GRCm39) N279I probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Aldh4a1 T A 4: 139,369,415 (GRCm39) V322E probably damaging Het
Atp12a A T 14: 56,610,837 (GRCm39) Y327F probably benign Het
C4b T C 17: 34,959,309 (GRCm39) T422A probably damaging Het
Cacna1c A T 6: 118,664,143 (GRCm39) S668T probably damaging Het
Cchcr1 A T 17: 35,837,577 (GRCm39) E426D probably damaging Het
Ccr3 G A 9: 123,828,830 (GRCm39) G55D probably damaging Het
Cdipt T A 7: 126,578,704 (GRCm39) probably null Het
Cep19 A G 16: 31,922,716 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cyp3a11 C A 5: 145,802,787 (GRCm39) M235I probably benign Het
Dnajc21 A T 15: 10,462,363 (GRCm39) D87E possibly damaging Het
Ell A C 8: 70,992,357 (GRCm39) M1L possibly damaging Het
Esyt3 T C 9: 99,240,466 (GRCm39) probably benign Het
Ets1 T C 9: 32,640,094 (GRCm39) probably benign Het
Fam222b T A 11: 78,045,858 (GRCm39) M473K probably benign Het
Fanca T C 8: 124,030,702 (GRCm39) probably benign Het
Fbrsl1 G T 5: 110,529,484 (GRCm39) A67D probably damaging Het
Fchsd1 G A 18: 38,094,380 (GRCm39) P622L probably damaging Het
Gal3st2c T G 1: 93,936,023 (GRCm39) probably null Het
Gins2 T G 8: 121,308,486 (GRCm39) H166P possibly damaging Het
Gm10118 A T 10: 63,762,845 (GRCm39) probably benign Het
Gm9979 A T 13: 40,859,289 (GRCm39) noncoding transcript Het
Hspbap1 A G 16: 35,622,033 (GRCm39) Y126C probably damaging Het
Hspd1 A T 1: 55,123,928 (GRCm39) I64N probably damaging Het
Igkv3-4 A T 6: 70,649,267 (GRCm39) S89C probably damaging Het
Il10ra T A 9: 45,176,924 (GRCm39) K134* probably null Het
Il12rb1 G A 8: 71,266,411 (GRCm39) C252Y possibly damaging Het
Il24 A T 1: 130,810,253 (GRCm39) V201E possibly damaging Het
Inpp1 A G 1: 52,833,820 (GRCm39) I92T probably damaging Het
Kcnh5 T C 12: 75,023,463 (GRCm39) D535G probably benign Het
Kcnq4 T A 4: 120,573,082 (GRCm39) I240F probably damaging Het
Kctd17 G A 15: 78,321,502 (GRCm39) probably benign Het
Leo1 T A 9: 75,364,423 (GRCm39) I521N possibly damaging Het
Mdga1 A G 17: 30,058,841 (GRCm39) L722P probably damaging Het
Met G T 6: 17,548,781 (GRCm39) V942L probably benign Het
Mfn1 A T 3: 32,617,996 (GRCm39) T110S probably benign Het
Mrps15 T C 4: 125,942,488 (GRCm39) I79T probably benign Het
Mycbp2 A C 14: 103,360,791 (GRCm39) M4497R probably damaging Het
Mylk T A 16: 34,699,722 (GRCm39) S362T probably benign Het
Mypn A G 10: 62,955,827 (GRCm39) F1209L probably benign Het
Nab2 T C 10: 127,500,526 (GRCm39) S189G probably damaging Het
Naxe A C 3: 87,963,840 (GRCm39) probably null Het
Ncf1 A G 5: 134,252,355 (GRCm39) V232A probably damaging Het
Nell1 A G 7: 49,929,359 (GRCm39) Y422C probably damaging Het
Nmnat2 G T 1: 152,969,807 (GRCm39) G176V probably damaging Het
Npr1 A G 3: 90,362,149 (GRCm39) S999P probably damaging Het
Nuak1 T C 10: 84,211,119 (GRCm39) D323G probably benign Het
Or4d10b A G 19: 12,036,642 (GRCm39) V158A probably benign Het
Or5h23 A G 16: 58,906,360 (GRCm39) F162S probably benign Het
Or8b3b T A 9: 38,584,261 (GRCm39) T160S probably damaging Het
Osbpl8 T C 10: 111,108,029 (GRCm39) S342P probably damaging Het
Pag1 A T 3: 9,764,482 (GRCm39) Y224N probably damaging Het
Pald1 T A 10: 61,179,489 (GRCm39) H460L probably damaging Het
Per2 G A 1: 91,355,578 (GRCm39) Q727* probably null Het
Pex19 T C 1: 171,960,779 (GRCm39) V134A probably benign Het
Ppef2 A T 5: 92,386,998 (GRCm39) V313D probably damaging Het
Prorp T C 12: 55,351,257 (GRCm39) S189P possibly damaging Het
Pzp A C 6: 128,500,759 (GRCm39) F153C probably damaging Het
Rasl11a A G 5: 146,782,052 (GRCm39) H9R probably benign Het
Rfx3 A T 19: 27,779,780 (GRCm39) probably null Het
Rmnd5b A T 11: 51,518,789 (GRCm39) I68N probably damaging Het
Senp5 T A 16: 31,808,331 (GRCm39) S281C probably damaging Het
Sh3rf1 G A 8: 61,814,766 (GRCm39) E442K probably benign Het
Slc12a3 G A 8: 95,072,416 (GRCm39) V645M probably damaging Het
Slc22a16 T C 10: 40,457,337 (GRCm39) F193L possibly damaging Het
Slc35f1 A T 10: 52,984,274 (GRCm39) T345S possibly damaging Het
Slc9a1 G A 4: 133,148,874 (GRCm39) R704H probably damaging Het
Spta1 A T 1: 174,003,336 (GRCm39) Y89F possibly damaging Het
Sspo A G 6: 48,451,425 (GRCm39) E2741G probably damaging Het
Strn4 G A 7: 16,567,799 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,132 (GRCm39) T1859A probably damaging Het
Tbc1d14 A T 5: 36,682,389 (GRCm39) Y3N probably damaging Het
Tdrd9 C A 12: 112,018,414 (GRCm39) R1278S probably benign Het
Tenm4 C A 7: 96,446,608 (GRCm39) A826E possibly damaging Het
Tenm4 G T 7: 96,446,607 (GRCm39) A826S possibly damaging Het
Tet2 C T 3: 133,182,241 (GRCm39) probably null Het
Tfec A G 6: 16,834,199 (GRCm39) L236P probably benign Het
Tjap1 A G 17: 46,569,797 (GRCm39) S388P probably damaging Het
Tle1 T C 4: 72,043,208 (GRCm39) T554A possibly damaging Het
Tmem17 G A 11: 22,467,450 (GRCm39) V83I probably benign Het
Tnrc6b C T 15: 80,760,703 (GRCm39) H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 (GRCm39) probably benign Het
Top3b T A 16: 16,709,441 (GRCm39) probably benign Het
Tph1 T C 7: 46,303,216 (GRCm39) H254R probably damaging Het
Tpte T C 8: 22,841,468 (GRCm39) Y487H probably damaging Het
Trappc13 T A 13: 104,284,749 (GRCm39) D241V probably damaging Het
Trrap A G 5: 144,719,075 (GRCm39) I193V probably benign Het
Tspear A T 10: 77,706,199 (GRCm39) H323L probably benign Het
Ttc39a A T 4: 109,290,184 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubg1 A G 11: 101,014,858 (GRCm39) D200G probably damaging Het
Ugdh C A 5: 65,580,217 (GRCm39) probably benign Het
Uso1 A G 5: 92,328,467 (GRCm39) N355D probably benign Het
Vamp4 T C 1: 162,420,248 (GRCm39) probably null Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vps52 A G 17: 34,180,195 (GRCm39) T300A probably benign Het
Wt1 A T 2: 104,957,629 (GRCm39) H163L probably damaging Het
Xirp2 T C 2: 67,344,379 (GRCm39) S2207P probably benign Het
Xpo6 A T 7: 125,706,250 (GRCm39) I30N probably damaging Het
Zfp386 T A 12: 116,023,347 (GRCm39) I320K 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
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
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'- TAACTCCTTCCAACGTCAGCTG -3'
(R):5'- ATCTGGATCTGGCTGAGCAG -3'

Sequencing Primer
(F):5'- TCCAACGTCAGCTGTCCAG -3'
(R):5'- CATCTGCAGCAACCTCTA -3'
Posted On 2016-10-26