Mutagenetix > Incidental Mutation

Incidental Mutation 'R2942:Phlpp1'

255191

Institutional Source

Beutler Lab

Gene Symbol

Phlpp1

Ensembl Gene

ENSMUSG00000044340

Gene Name

PH domain and leucine rich repeat protein phosphatase 1

Synonyms

Plekhe1, Phlpp

Accession Numbers

Essential gene?

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

Stock #

R2942 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

106099599-106321975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106100502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 257 (V257I)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

probably benign
Transcript: ENSMUST00000061047
AA Change: V257I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: V257I

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	T	1: 58,376,540 (GRCm39)	R907L	probably benign	Het
Fat4	A	G	3: 39,036,485 (GRCm39)	N3379S	probably damaging	Het
Kcnv1	A	G	15: 44,972,581 (GRCm39)	F434S	probably damaging	Het
Parg	A	G	14: 31,931,294 (GRCm39)	K305E	probably damaging	Het
Pth2r	G	A	1: 65,427,635 (GRCm39)	R436K	probably benign	Het
Srsf9	T	C	5: 115,470,752 (GRCm39)	Y215H	probably damaging	Het
Tjp1	A	G	7: 64,967,754 (GRCm39)	V798A	probably damaging	Het
Trmt13	A	T	3: 116,379,421 (GRCm39)	I242N	probably damaging	Het
Vmn1r31	G	A	6: 58,449,583 (GRCm39)	T94I	possibly damaging	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
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
R4654:Phlpp1	UTSW	1	106,267,231 (GRCm39)	missense	probably benign	0.00
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'- CTGTGTGCACGTCTTTGACC -3'
(R):5'- GCAGTAAAGCCGAGGTCTTC -3'

Sequencing Primer
(F):5'- GTCTTTGACCGCCACATGG -3'
(R):5'- CTGAAGCTCTCGGTGTCAGAG -3'

Posted On

2014-12-29