Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Phlpp1'

480857

Institutional Source

Beutler Lab

Gene Symbol

Phlpp1

Ensembl Gene

ENSMUSG00000044340

Gene Name

PH domain and leucine rich repeat protein phosphatase 1

Synonyms

Phlpp, Plekhe1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 106318993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 638 (R638*)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

probably null
Transcript: ENSMUST00000061047
AA Change: R638*

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: R638*

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: ENSMUST00000124895

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
Dtl	A	T	1: 191,568,572		probably null	Het
F2rl1	T	A	13: 95,514,270	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291	M1I	probably null	Het
March7	C	A	2: 60,245,220	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTCCTGAGTTCCCAAAAGG -3'
(R):5'- CTGTTCTCACTATAAAGCAAAGCC -3'

Sequencing Primer
(F):5'- CCCAAAAGGGAATGTCTCATTTC -3'
(R):5'- GCCATGTTATATTGCCTTCTGAAGAG -3'

Posted On

2017-06-26