Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Phlpp1'

209787

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

039910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106318850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 590 (V590A)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061047
AA Change: V590A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: V590A

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

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,152,762		noncoding transcript	Het
9130008F23Rik	T	C	17: 40,880,302	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607		probably null	Het
Acp6	C	T	3: 97,165,885	R81W	probably damaging	Het
Agbl1	A	C	7: 76,589,381	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,433,476	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,101,429	M532L	probably damaging	Het
Appl1	A	G	14: 26,925,513		probably benign	Het
Arhgef19	T	C	4: 141,249,313	F462S	probably damaging	Het
Astn1	A	G	1: 158,505,316		probably null	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cadm2	T	C	16: 66,882,795	D50G	probably damaging	Het
Ccdc81	G	A	7: 89,882,294	Q324*	probably null	Het
Cd300lf	A	G	11: 115,120,380	V178A	probably benign	Het
Cdt1	T	C	8: 122,572,052	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,558,725	V225A	probably benign	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Cfap54	A	G	10: 93,034,710	S684P	possibly damaging	Het
Clip1	C	A	5: 123,653,496	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,192,840	E226G	probably benign	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,602,156	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,676,759	A614E	probably benign	Het
Dpm1	C	T	2: 168,217,735	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Engase	T	C	11: 118,478,933	F57S	probably damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
Fam20a	T	C	11: 109,673,554	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Gkn2	T	A	6: 87,378,155	Y115*	probably null	Het
Gtdc1	A	G	2: 44,591,914	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,345,176	D302G	probably benign	Het
Herc2	C	T	7: 56,189,813	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,662,075	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,234,492		probably benign	Het
Ift122	T	C	6: 115,894,421		probably null	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Itgb2	A	T	10: 77,548,623	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,910,469	I65S	probably damaging	Het
Jpt2	T	C	17: 24,960,611	M1V	probably null	Het
Kcnt2	A	T	1: 140,584,293	H995L	probably damaging	Het
Kif20b	T	C	19: 34,941,208		probably benign	Het
Kif7	T	C	7: 79,710,463	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,015,420	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,451,733	D475G	probably damaging	Het
Lcor	T	C	19: 41,559,128	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,919,167	C2463*	probably null	Het
March6	T	C	15: 31,459,193	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,308,677		probably null	Het
Nipal4	T	A	11: 46,150,733	I212F	probably damaging	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Nwd2	A	G	5: 63,807,666	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr204	T	G	16: 59,314,963	Y148S	probably damaging	Het
Oosp1	C	T	19: 11,667,794	V169I	possibly damaging	Het
Opa1	T	C	16: 29,625,585	V863A	possibly damaging	Het
Pabpc4l	A	T	3: 46,446,363	M282K	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pcnx3	T	C	19: 5,672,656	D1336G	probably damaging	Het
Rbck1	T	A	2: 152,318,356	T468S	probably damaging	Het
Ripor2	T	A	13: 24,693,887	I290N	probably damaging	Het
Rnf139	T	C	15: 58,899,497	L457P	probably damaging	Het
Rtn1	C	A	12: 72,304,410	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,485,021		probably null	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,953,496	V148A	probably damaging	Het
Shank2	C	A	7: 144,186,858	S568*	probably null	Het
Skiv2l2	T	C	13: 112,887,490	N707S	probably benign	Het
Slc10a4	T	C	5: 73,012,147	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,335,490	T37A	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,632,204	D52E	probably benign	Het
Slc6a5	T	C	7: 49,951,434	M661T	probably benign	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Steap4	G	T	5: 7,975,892	R151L	probably damaging	Het
Sun5	T	A	2: 153,865,995	I107L	probably benign	Het
Tacc1	C	T	8: 25,175,253	V488M	probably damaging	Het
Tgs1	A	G	4: 3,614,928	T829A	probably benign	Het
Tnxb	A	G	17: 34,695,825	E1929G	probably damaging	Het
Tssc4	A	C	7: 143,070,555	Q200P	probably damaging	Het
Ttn	A	G	2: 76,758,532	W21398R	probably damaging	Het
Usp50	C	T	2: 126,777,898		probably null	Het
Usp9y	A	T	Y: 1,448,829		probably null	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Zfat	T	C	15: 68,101,539	T1118A	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
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
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'- TCATTGCGTTCTTCGGAGCC -3'
(R):5'- GAGATTCTAGCGCTTGTGCAG -3'

Sequencing Primer
(F):5'- CGTTCTTCGGAGCCCTGTG -3'
(R):5'- CGCTTGTGCAGGCTCAC -3'

Posted On

2014-06-30