Mutagenetix > Incidental Mutations

Incidental Mutation 'R5570:Phlpp1'

435584

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

043127-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106173432 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 477 (I477F)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061047
AA Change: I477F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: I477F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190105

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,694,281	S41R	probably damaging	Het
Aqr	G	A	2: 114,148,970	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,099,618	D99E	probably damaging	Het
Boc	G	A	16: 44,492,824	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497	I876N	possibly damaging	Het
Cep72	T	C	13: 74,040,141	Q211R	probably benign	Het
Clmp	T	C	9: 40,772,530		probably null	Het
Coq6	T	A	12: 84,368,639	D145E	probably benign	Het
Crym	T	C	7: 120,201,893	E11G	probably benign	Het
Defb36	T	A	2: 152,612,583	V54E	probably damaging	Het
Dlg5	C	A	14: 24,192,913	E55*	probably null	Het
Dock2	G	T	11: 34,727,406	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,296,824	K60E	possibly damaging	Het
Eps8l2	G	A	7: 141,355,007	R76Q	possibly damaging	Het
Espn	T	C	4: 152,123,780	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,895,267		probably benign	Het
Fgd5	T	C	6: 91,988,687	S476P	probably damaging	Het
Gsto1	T	C	19: 47,857,899	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gxylt1	A	G	15: 93,254,299		probably null	Het
Hs6st1	C	T	1: 36,103,638	P218L	probably benign	Het
Kif5c	A	G	2: 49,730,199	D226G	possibly damaging	Het
Krt1	A	G	15: 101,846,905	F473S	probably benign	Het
Lpxn	T	A	19: 12,832,659	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,732,024	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,481,096	R645W	possibly damaging	Het
Msr1	T	C	8: 39,611,719	I305V	probably benign	Het
Muc4	A	G	16: 32,777,692	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,881,512	F105L	probably damaging	Het
Nploc4	C	T	11: 120,384,614	V499M	probably benign	Het
Nup93	T	C	8: 94,314,670	V812A	probably damaging	Het
Olfr1012	G	A	2: 85,759,650	S242F	probably damaging	Het
Olfr1328	T	A	4: 118,934,066	I259F	possibly damaging	Het
Olfr49	A	G	14: 54,282,368	F176L	probably damaging	Het
Parn	G	A	16: 13,665,930	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,344,171	C787R	probably benign	Het
Pdk2	A	T	11: 95,030,000	I175N	probably damaging	Het
Pelo	T	C	13: 115,089,616	I102V	probably benign	Het
Phf12	A	G	11: 78,018,111	D339G	possibly damaging	Het
Pigt	T	A	2: 164,501,562	Y319*	probably null	Het
Pmpca	A	G	2: 26,390,541	E133G	probably damaging	Het
Ptgs2	A	G	1: 150,104,108	I321M	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Qsox2	A	G	2: 26,225,218	M1T	probably null	Het
Rara	C	G	11: 98,972,652	R382G	probably damaging	Het
Rbbp6	A	G	7: 123,001,834		probably benign	Het
Rev3l	T	C	10: 39,852,075		probably null	Het
Robo3	T	A	9: 37,425,275	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Skint3	A	G	4: 112,235,798	M20V	probably benign	Het
Slc17a6	A	G	7: 51,658,756	D276G	probably benign	Het
Sult3a2	A	T	10: 33,778,272	V128D	probably damaging	Het
Syt3	T	A	7: 44,390,619	V92E	possibly damaging	Het
Them7	A	G	2: 105,378,808	T158A	probably benign	Het
Utp14b	G	A	1: 78,665,401	D339N	probably damaging	Het
Vars	T	C	17: 35,016,238	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,844,630	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,120,373	R293H	probably damaging	Het
Zfp638	A	T	6: 83,979,188	E1592D	probably damaging	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
R4654:Phlpp1	UTSW	1	106339501	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGACAGCACTGGCGTGATAG -3'
(R):5'- ACCTTGCAGATTTCAAGAATGC -3'

Sequencing Primer
(F):5'- TCGACTTCGGGGAGGATAC -3'
(R):5'- CTCAATTTAGTACTTGCACAGGCGG -3'

Posted On

2016-10-24