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

Plekhe1, Phlpp

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106099599-106321975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106267231 bp (GRCm39)

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
Adam3	A	T	8: 25,193,819 (GRCm39)	C398S	probably damaging	Het
Adamts10	A	G	17: 33,756,304 (GRCm39)	K316E	possibly damaging	Het
Ap1m1	T	C	8: 73,006,717 (GRCm39)	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,803,088 (GRCm39)	D180E	probably benign	Het
Atp9b	A	G	18: 80,935,093 (GRCm39)	F201L	probably benign	Het
Btbd9	A	C	17: 30,704,561 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,975,910 (GRCm39)	T768A	probably benign	Het
Casq1	C	T	1: 172,037,965 (GRCm39)		probably benign	Het
Cimap2	C	A	4: 106,467,612 (GRCm39)	M341I	probably benign	Het
Cltc	A	T	11: 86,617,196 (GRCm39)	M351K	probably benign	Het
Cnp	A	G	11: 100,469,877 (GRCm39)	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,845,544 (GRCm39)	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279 (GRCm39)	S117P	probably benign	Het
Cyp2b13	T	C	7: 25,761,072 (GRCm39)	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dclk2	T	C	3: 86,743,683 (GRCm39)	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,458,742 (GRCm39)	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dennd5b	T	C	6: 148,908,335 (GRCm39)	N986S	probably damaging	Het
Dipk1a	T	C	5: 108,057,982 (GRCm39)		probably null	Het
Dusp9	G	A	X: 72,684,378 (GRCm39)	R182Q	probably benign	Het
Ecpas	A	T	4: 58,834,523 (GRCm39)	I785N	possibly damaging	Het
Edil3	A	G	13: 89,437,589 (GRCm39)	K397E	probably damaging	Het
Ehd1	T	C	19: 6,326,994 (GRCm39)		probably benign	Het
Fam13a	A	T	6: 58,964,152 (GRCm39)	H93Q	probably benign	Het
Farp1	T	C	14: 121,513,716 (GRCm39)	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,922,771 (GRCm39)	I216F	probably damaging	Het
Gadl1	G	A	9: 115,770,408 (GRCm39)	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,618,436 (GRCm39)	V122A	probably damaging	Het
Hdac10	C	T	15: 89,011,036 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,130 (GRCm39)	S502G	possibly damaging	Het
Hr	C	A	14: 70,801,013 (GRCm39)	A695E	probably damaging	Het
Ift80	A	T	3: 68,825,870 (GRCm39)	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,970,692 (GRCm39)		probably benign	Het
Iqch	T	G	9: 63,432,195 (GRCm39)	Y400S	probably damaging	Het
Jag2	C	T	12: 112,877,266 (GRCm39)	D702N	probably benign	Het
Kiss1r	T	A	10: 79,757,624 (GRCm39)	L326Q	probably damaging	Het
Lrrc42	A	T	4: 107,104,746 (GRCm39)	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,026,880 (GRCm39)	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,649,884 (GRCm39)	S1674P	probably damaging	Het
Mctp2	A	G	7: 71,739,942 (GRCm39)	L816P	probably damaging	Het
Mipol1	A	T	12: 57,352,918 (GRCm39)	T86S	probably benign	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849 (GRCm39)	V302A	probably benign	Het
Msc	A	T	1: 14,826,053 (GRCm39)		probably null	Het
Msmo1	C	A	8: 65,180,888 (GRCm39)	V9L	probably benign	Het
Nbeal2	G	A	9: 110,461,072 (GRCm39)	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,187,850 (GRCm39)	V12I	possibly damaging	Het
Npas3	T	C	12: 54,108,915 (GRCm39)		probably null	Het
Nr2e3	A	G	9: 59,856,355 (GRCm39)		probably benign	Het
Oca2	C	T	7: 55,978,560 (GRCm39)	A576V	probably benign	Het
Or5b21	T	A	19: 12,839,596 (GRCm39)	C152*	probably null	Het
Or6d12	T	C	6: 116,493,409 (GRCm39)	Y224H	probably damaging	Het
Or6z7	T	C	7: 6,484,045 (GRCm39)	T37A	probably benign	Het
Parp6	A	G	9: 59,548,383 (GRCm39)		probably null	Het
Pate13	T	A	9: 35,820,287 (GRCm39)	C4S	probably damaging	Het
Pi4k2a	G	A	19: 42,101,544 (GRCm39)		probably null	Het
Pik3ap1	A	G	19: 41,316,348 (GRCm39)	S305P	probably damaging	Het
Plcg2	G	A	8: 118,231,054 (GRCm39)	M45I	probably benign	Het
Ppm1m	A	T	9: 106,073,601 (GRCm39)	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,866,227 (GRCm39)	M341R	probably benign	Het
Prdx3	A	G	19: 60,853,674 (GRCm39)	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,400,496 (GRCm39)	V773A	possibly damaging	Het
Raly	T	C	2: 154,699,376 (GRCm39)	V60A	probably damaging	Het
Reps1	A	G	10: 17,990,148 (GRCm39)	D420G	probably damaging	Het
Rev1	A	T	1: 38,118,337 (GRCm39)		probably benign	Het
Rgs2	T	G	1: 143,878,650 (GRCm39)		probably benign	Het
Rlf	G	T	4: 121,007,798 (GRCm39)	T394K	probably benign	Het
Rptn	A	T	3: 93,304,792 (GRCm39)	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,414,494 (GRCm39)	M402K	probably benign	Het
Skic2	A	G	17: 35,068,922 (GRCm39)	C26R	probably damaging	Het
Slx9	T	C	10: 77,325,860 (GRCm39)	M170V	possibly damaging	Het
Smpd4	A	G	16: 17,459,992 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,063,813 (GRCm39)	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,684,326 (GRCm39)	F64I	probably benign	Het
Tex21	A	C	12: 76,263,860 (GRCm39)	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954 (GRCm39)	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,611,797 (GRCm39)	V145A	probably benign	Het
Ttn	C	T	2: 76,616,936 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,269,670 (GRCm39)	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,634,083 (GRCm39)	S175P	probably damaging	Het
Vcl	A	G	14: 21,035,820 (GRCm39)		probably null	Het
Vegfa	A	T	17: 46,336,176 (GRCm39)		probably benign	Het
Vmn2r68	G	A	7: 84,882,769 (GRCm39)	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ybx3	G	T	6: 131,347,290 (GRCm39)	R282S	probably damaging	Het
Zfp566	T	C	7: 29,777,194 (GRCm39)	H329R	probably damaging	Het
Zfp786	T	C	6: 47,797,868 (GRCm39)	I357V	probably benign	Het
Zfr2	C	A	10: 81,087,083 (GRCm39)		probably null	Het

Other mutations in Phlpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGGTCCCTATTTGTGATCTCCG -3'
(R):5'- GGGGTTACCTTAGGTCCACATG -3'

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

Posted On

2015-10-08