Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Phlpp1'

351507

Institutional Source

Beutler Lab

Gene Symbol

Phlpp1

Ensembl Gene

ENSMUSG00000044340

Gene Name

PH domain and leucine rich repeat protein phosphatase 1

Synonyms

Phlpp, Plekhe1

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106339501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 715 (M715L)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061047]

AlphaFold

Q8CHE4

Predicted Effect

probably benign
Transcript: ENSMUST00000061047
AA Change: M715L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: M715L

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

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	T	A	9: 35,908,991	C4S	probably damaging	Het
Adam3	A	T	8: 24,703,803	C398S	probably damaging	Het
Adamts10	A	G	17: 33,537,330	K316E	possibly damaging	Het
AI314180	A	T	4: 58,834,523	I785N	possibly damaging	Het
Ap1m1	T	C	8: 72,252,873	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,895,776	D180E	probably benign	Het
Atp9b	A	G	18: 80,891,878	F201L	probably benign	Het
Btbd9	A	C	17: 30,485,587		probably benign	Het
C2cd5	T	C	6: 143,030,184	T768A	probably benign	Het
Casq1	C	T	1: 172,210,398		probably benign	Het
Cltc	A	T	11: 86,726,370	M351K	probably benign	Het
Cnp	A	G	11: 100,579,051	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,973,695	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279	S117P	probably benign	Het
Cyp2b13	T	C	7: 26,061,647	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dclk2	T	C	3: 86,836,376	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,859,519	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dennd5b	T	C	6: 149,006,837	N986S	probably damaging	Het
Dusp9	G	A	X: 73,640,772	R182Q	probably benign	Het
Edil3	A	G	13: 89,289,470	K397E	probably damaging	Het
Ehd1	T	C	19: 6,276,964		probably benign	Het
Fam13a	A	T	6: 58,987,167	H93Q	probably benign	Het
Fam207a	T	C	10: 77,490,026	M170V	possibly damaging	Het
Fam69a	T	C	5: 107,910,116		probably null	Het
Farp1	T	C	14: 121,276,304	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,765,429	I216F	probably damaging	Het
Gadl1	G	A	9: 115,941,340	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,380,979	V122A	probably damaging	Het
Hdac10	C	T	15: 89,126,833		probably benign	Het
Heatr5b	T	C	17: 78,820,701	S502G	possibly damaging	Het
Hr	C	A	14: 70,563,573	A695E	probably damaging	Het
Ift80	A	T	3: 68,918,537	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,834,184		probably benign	Het
Iqch	T	G	9: 63,524,913	Y400S	probably damaging	Het
Jag2	C	T	12: 112,913,646	D702N	probably benign	Het
Kiss1r	T	A	10: 79,921,790	L326Q	probably damaging	Het
Lexm	C	A	4: 106,610,415	M341I	probably benign	Het
Lrrc42	A	T	4: 107,247,549	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,196,536	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,765,681	S1674P	probably damaging	Het
Mctp2	A	G	7: 72,090,194	L816P	probably damaging	Het
Mipol1	A	T	12: 57,306,132	T86S	probably benign	Het
Mkrn3	C	T	7: 62,419,704	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849	V302A	probably benign	Het
Msc	A	T	1: 14,755,829		probably null	Het
Msmo1	C	A	8: 64,727,854	V9L	probably benign	Het
Nbeal2	G	A	9: 110,632,004	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,133,701	V12I	possibly damaging	Het
Npas3	T	C	12: 54,062,132		probably null	Het
Nr2e3	A	G	9: 59,949,072		probably benign	Het
Oca2	C	T	7: 56,328,812	A576V	probably benign	Het
Olfr1444	T	A	19: 12,862,232	C152*	probably null	Het
Olfr212	T	C	6: 116,516,448	Y224H	probably damaging	Het
Olfr5	T	C	7: 6,481,046	T37A	probably benign	Het
Parp6	A	G	9: 59,641,100		probably null	Het
Pi4k2a	G	A	19: 42,113,105		probably null	Het
Pik3ap1	A	G	19: 41,327,909	S305P	probably damaging	Het
Plcg2	G	A	8: 117,504,315	M45I	probably benign	Het
Ppm1m	A	T	9: 106,196,402	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,558,799	M341R	probably benign	Het
Prdx3	A	G	19: 60,865,236	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,163,047	V773A	possibly damaging	Het
Raly	T	C	2: 154,857,456	V60A	probably damaging	Het
Reps1	A	G	10: 18,114,400	D420G	probably damaging	Het
Rev1	A	T	1: 38,079,256		probably benign	Het
Rgs2	T	G	1: 144,002,912		probably benign	Het
Rlf	G	T	4: 121,150,601	T394K	probably benign	Het
Rptn	A	T	3: 93,397,485	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,572,574	M402K	probably benign	Het
Skiv2l	A	G	17: 34,849,946	C26R	probably damaging	Het
Smpd4	A	G	16: 17,642,128		probably benign	Het
Synj2	A	G	17: 6,013,538	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,707,365	F64I	probably benign	Het
Tex21	A	C	12: 76,217,086	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,720,971	V145A	probably benign	Het
Ttn	C	T	2: 76,786,592		probably benign	Het
Uggt2	A	G	14: 119,032,258	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,486,224	S175P	probably damaging	Het
Vcl	A	G	14: 20,985,752		probably null	Het
Vegfa	A	T	17: 46,025,250		probably benign	Het
Vmn2r68	G	A	7: 85,233,561	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,719,443	Y142H	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ybx3	G	T	6: 131,370,327	R282S	probably damaging	Het
Zfp566	T	C	7: 30,077,769	H329R	probably damaging	Het
Zfp786	T	C	6: 47,820,934	I357V	probably benign	Het
Zfr2	C	A	10: 81,251,249		probably null	Het

Other mutations in Phlpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Phlpp1	APN	1	106376255	missense	probably damaging	1.00
IGL00848:Phlpp1	APN	1	106339448	missense	probably damaging	1.00
IGL01122:Phlpp1	APN	1	106173436	missense	possibly damaging	0.51
IGL01588:Phlpp1	APN	1	106380389	missense	probably damaging	1.00
IGL02145:Phlpp1	APN	1	106389883	missense	probably damaging	0.96
IGL02417:Phlpp1	APN	1	106392714	missense	probably benign	0.00
IGL02863:Phlpp1	APN	1	106376297	splice site	probably null
IGL03178:Phlpp1	APN	1	106392388	missense	probably damaging	0.99
R0400:Phlpp1	UTSW	1	106392934	missense	probably benign	0.35
R0423:Phlpp1	UTSW	1	106339615	missense	probably benign	0.03
R0449:Phlpp1	UTSW	1	106350578	missense	probably damaging	0.98
R0765:Phlpp1	UTSW	1	106392283	missense	probably damaging	1.00
R0884:Phlpp1	UTSW	1	106389665	splice site	probably null
R1394:Phlpp1	UTSW	1	106350618	missense	possibly damaging	0.82
R1395:Phlpp1	UTSW	1	106350618	missense	possibly damaging	0.82
R1428:Phlpp1	UTSW	1	106380425	splice site	probably null
R1438:Phlpp1	UTSW	1	106173412	missense	possibly damaging	0.53
R1521:Phlpp1	UTSW	1	106392319	missense	probably damaging	1.00
R1572:Phlpp1	UTSW	1	106392789	missense	probably damaging	1.00
R1588:Phlpp1	UTSW	1	106380385	missense	probably damaging	1.00
R1843:Phlpp1	UTSW	1	106343505	missense	probably benign	0.40
R1889:Phlpp1	UTSW	1	106318850	missense	possibly damaging	0.95
R2404:Phlpp1	UTSW	1	106172839	missense	probably benign	0.22
R2942:Phlpp1	UTSW	1	106172772	missense	probably benign	0.00
R3774:Phlpp1	UTSW	1	106393191	small deletion	probably benign
R3832:Phlpp1	UTSW	1	106392597	missense	probably damaging	1.00
R4029:Phlpp1	UTSW	1	106392549	missense	probably damaging	0.98
R4086:Phlpp1	UTSW	1	106347161	missense	probably benign	0.03
R4112:Phlpp1	UTSW	1	106364338	missense	probably damaging	1.00
R4472:Phlpp1	UTSW	1	106386446	missense	probably damaging	1.00
R4908:Phlpp1	UTSW	1	106389751	missense	probably damaging	1.00
R5027:Phlpp1	UTSW	1	106281471	missense	probably damaging	1.00
R5199:Phlpp1	UTSW	1	106173394	missense	probably damaging	0.98
R5352:Phlpp1	UTSW	1	106172725	missense	probably benign	0.07
R5508:Phlpp1	UTSW	1	106364390	missense	probably benign	0.02
R5570:Phlpp1	UTSW	1	106173432	missense	probably benign	0.01
R5590:Phlpp1	UTSW	1	106392927	missense	possibly damaging	0.95
R5838:Phlpp1	UTSW	1	106347132	nonsense	probably null
R5955:Phlpp1	UTSW	1	106364230	splice site	probably null
R5992:Phlpp1	UTSW	1	106318993	nonsense	probably null
R6469:Phlpp1	UTSW	1	106287103	missense	probably damaging	1.00
R6821:Phlpp1	UTSW	1	106386444	missense	probably damaging	0.98
R6952:Phlpp1	UTSW	1	106172479	missense	probably benign	0.04
R7101:Phlpp1	UTSW	1	106172667	missense	possibly damaging	0.96
R7402:Phlpp1	UTSW	1	106389690	missense	probably damaging	1.00
R7425:Phlpp1	UTSW	1	106392573	missense	probably benign	0.00
R7692:Phlpp1	UTSW	1	106281402	missense	probably damaging	1.00
R7874:Phlpp1	UTSW	1	106389873	missense	probably benign	0.05
R7970:Phlpp1	UTSW	1	106173285	missense	probably damaging	1.00
R8080:Phlpp1	UTSW	1	106392976	missense	probably benign	0.00
R8133:Phlpp1	UTSW	1	106172792	frame shift	probably null
R8224:Phlpp1	UTSW	1	106392618	missense	probably damaging	1.00
R8503:Phlpp1	UTSW	1	106392289	missense	probably benign	0.00
R8830:Phlpp1	UTSW	1	106350603	missense	probably damaging	1.00
R8882:Phlpp1	UTSW	1	106392642	missense	probably benign	0.01
R9257:Phlpp1	UTSW	1	106172551	missense	possibly damaging	0.85
R9472:Phlpp1	UTSW	1	106380349	missense	probably damaging	0.99
R9691:Phlpp1	UTSW	1	106318969	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCCTATTTGTGATCTCCG -3'
(R):5'- GGGGTTACCTTAGGTCCACATG -3'

Sequencing Primer
(F):5'- TGCCTTGTCTTTATGAATTTTTGCAG -3'
(R):5'- GGTCCACATGTTTAATATGAGGC -3'

Posted On

2015-10-08