Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Phlpp1'

161375

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

039484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 106380425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

probably null
Transcript: ENSMUST00000061047

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340

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

probably null
Transcript: ENSMUST00000061047

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340

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

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	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
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
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'- GAAAACAGTCTTTGTGCCACAGCC -3'
(R):5'- AGCCTGGTGCTTAAACATTGAGGAG -3'

Sequencing Primer
(F):5'- GCAGTGTCCTCTCTCAGGTAAAG -3'
(R):5'- CTTAAACATTGAGGAGTGAGCC -3'

Posted On

2014-03-14