Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Phlpp1'

673728

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

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106171752-106394250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106350603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 915 (L915R)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061047
AA Change: L915R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: L915R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,747,323 (GRCm38)	T193S	probably benign	Het
Abca7	T	A	10: 80,008,971 (GRCm38)	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,883,356 (GRCm38)	D376G	probably damaging	Het
Agbl1	A	G	7: 76,335,311 (GRCm38)	T159A		Het
Ahnak2	G	A	12: 112,787,036 (GRCm38)	R89W		Het
Ajm1	T	G	2: 25,577,250 (GRCm38)	D883A		Het
Arhgef40	A	C	14: 52,003,708 (GRCm38)	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,248,176 (GRCm38)	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,545 (GRCm38)	F105I	probably damaging	Het
Atp9b	C	T	18: 80,765,800 (GRCm38)	E635K		Het
Brix1	T	A	15: 10,479,596 (GRCm38)	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,230,418 (GRCm38)		probably benign	Het
Cfap46	A	G	7: 139,615,649 (GRCm38)	S2208P	unknown	Het
Crisp1	T	A	17: 40,294,419 (GRCm38)	K234*	probably null	Het
Cryzl1	C	T	16: 91,712,204 (GRCm38)	V70I	probably benign	Het
Cybc1	C	T	11: 121,228,723 (GRCm38)		probably benign	Het
Dnah7b	T	C	1: 46,191,793 (GRCm38)	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,771,199 (GRCm38)	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,309,508 (GRCm38)	H329P	unknown	Het
Erbb4	A	T	1: 68,075,468 (GRCm38)	L939Q	probably damaging	Het
Fst	A	T	13: 114,455,828 (GRCm38)	C118S	probably damaging	Het
Gfra3	A	G	18: 34,711,136 (GRCm38)	V117A	possibly damaging	Het
Gldc	C	G	19: 30,100,812 (GRCm38)	M928I	probably benign	Het
Greb1	A	G	12: 16,688,519 (GRCm38)	M1481T	probably benign	Het
Hecw2	G	A	1: 53,891,146 (GRCm38)	R1045C	probably damaging	Het
Hexb	C	T	13: 97,194,254 (GRCm38)	V84I	probably benign	Het
Hpse	T	C	5: 100,695,586 (GRCm38)	E240G	probably benign	Het
Hspa12a	T	C	19: 58,805,463 (GRCm38)	D322G	possibly damaging	Het
Hspa9	A	T	18: 34,948,104 (GRCm38)		probably null	Het
Kif9	A	G	9: 110,524,930 (GRCm38)	K790R	probably damaging	Het
Klc2	C	T	19: 5,110,366 (GRCm38)		probably null	Het
Ldha	C	G	7: 46,850,278 (GRCm38)	N144K	probably benign	Het
Micalcl	A	G	7: 112,381,196 (GRCm38)	T126A	probably benign	Het
Mrpl15	A	T	1: 4,782,584 (GRCm38)	V137D	probably damaging	Het
Muc16	G	A	9: 18,646,069 (GRCm38)	T2976I	unknown	Het
Mybpc2	A	T	7: 44,512,541 (GRCm38)	V495D	probably damaging	Het
Or10a5	A	G	7: 107,036,682 (GRCm38)	N176D	probably benign	Het
Or52ab2	A	G	7: 103,321,005 (GRCm38)	K198R		Het
Or6c203	A	T	10: 129,174,846 (GRCm38)	Y58*	probably null	Het
Pcnt	G	A	10: 76,382,174 (GRCm38)	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,033,073 (GRCm38)	D563G	probably damaging	Het
Plekhh2	T	A	17: 84,521,803 (GRCm38)	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,378,498 (GRCm38)	T84S		Het
Prxl2c	G	A	13: 64,297,300 (GRCm38)	Q170*	probably null	Het
Ptprq	A	G	10: 107,586,695 (GRCm38)	V1612A	possibly damaging	Het
Pvrig	T	G	5: 138,342,148 (GRCm38)		probably benign	Het
Rasl10b	A	T	11: 83,412,676 (GRCm38)	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,209,006 (GRCm38)	V98E	probably damaging	Het
Rims2	T	C	15: 39,437,362 (GRCm38)	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,736,015 (GRCm38)	H30R	probably benign	Het
Slc28a1	G	A	7: 81,161,046 (GRCm38)	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189 (GRCm38)	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,644,574 (GRCm38)		probably benign	Het
Spag17	T	A	3: 100,125,435 (GRCm38)	H2320Q	possibly damaging	Het
Speer4a1	T	C	5: 26,036,795 (GRCm38)	E111G	possibly damaging	Het
Ss18l1	T	C	2: 180,067,338 (GRCm38)	Y397H	unknown	Het
Tbck	T	C	3: 132,838,057 (GRCm38)	S890P	probably damaging	Het
Tcp11	T	C	17: 28,080,230 (GRCm38)	E17G	probably benign	Het
Tesk2	C	T	4: 116,802,287 (GRCm38)	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383 (GRCm38)	N45S	probably benign	Het
Trim10	C	T	17: 36,869,954 (GRCm38)	P26S	probably damaging	Het
Vmac	C	A	17: 56,715,573 (GRCm38)	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,234,032 (GRCm38)	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,244,836 (GRCm38)	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 12,153,191 (GRCm38)	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,466,862 (GRCm38)	Q261*	probably null	Het
Ybx2	A	G	11: 69,936,237 (GRCm38)	K88R	probably benign	Het
Zfhx4	G	A	3: 5,398,889 (GRCm38)	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,774,927 (GRCm38)	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600 (GRCm38)	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,223,316 (GRCm38)	E650G	possibly damaging	Het

Other mutations in Phlpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Phlpp1	APN	1	106,339,448 (GRCm38)	missense	probably damaging	1.00
IGL00848:Phlpp1	APN	1	106,376,255 (GRCm38)	missense	probably damaging	1.00
IGL01122:Phlpp1	APN	1	106,173,436 (GRCm38)	missense	possibly damaging	0.51
IGL01588:Phlpp1	APN	1	106,380,389 (GRCm38)	missense	probably damaging	1.00
IGL02145:Phlpp1	APN	1	106,389,883 (GRCm38)	missense	probably damaging	0.96
IGL02417:Phlpp1	APN	1	106,392,714 (GRCm38)	missense	probably benign	0.00
IGL02863:Phlpp1	APN	1	106,376,297 (GRCm38)	splice site	probably null
IGL03178:Phlpp1	APN	1	106,392,388 (GRCm38)	missense	probably damaging	0.99
R0400:Phlpp1	UTSW	1	106,392,934 (GRCm38)	missense	probably benign	0.35
R0423:Phlpp1	UTSW	1	106,339,615 (GRCm38)	missense	probably benign	0.03
R0449:Phlpp1	UTSW	1	106,350,578 (GRCm38)	missense	probably damaging	0.98
R0765:Phlpp1	UTSW	1	106,392,283 (GRCm38)	missense	probably damaging	1.00
R0884:Phlpp1	UTSW	1	106,389,665 (GRCm38)	splice site	probably null
R1394:Phlpp1	UTSW	1	106,350,618 (GRCm38)	missense	possibly damaging	0.82
R1395:Phlpp1	UTSW	1	106,350,618 (GRCm38)	missense	possibly damaging	0.82
R1428:Phlpp1	UTSW	1	106,380,425 (GRCm38)	splice site	probably null
R1438:Phlpp1	UTSW	1	106,173,412 (GRCm38)	missense	possibly damaging	0.53
R1521:Phlpp1	UTSW	1	106,392,319 (GRCm38)	missense	probably damaging	1.00
R1572:Phlpp1	UTSW	1	106,392,789 (GRCm38)	missense	probably damaging	1.00
R1588:Phlpp1	UTSW	1	106,380,385 (GRCm38)	missense	probably damaging	1.00
R1843:Phlpp1	UTSW	1	106,343,505 (GRCm38)	missense	probably benign	0.40
R1889:Phlpp1	UTSW	1	106,318,850 (GRCm38)	missense	possibly damaging	0.95
R2404:Phlpp1	UTSW	1	106,172,839 (GRCm38)	missense	probably benign	0.22
R2942:Phlpp1	UTSW	1	106,172,772 (GRCm38)	missense	probably benign	0.00
R3774:Phlpp1	UTSW	1	106,393,191 (GRCm38)	small deletion	probably benign
R3832:Phlpp1	UTSW	1	106,392,597 (GRCm38)	missense	probably damaging	1.00
R4029:Phlpp1	UTSW	1	106,392,549 (GRCm38)	missense	probably damaging	0.98
R4086:Phlpp1	UTSW	1	106,347,161 (GRCm38)	missense	probably benign	0.03
R4112:Phlpp1	UTSW	1	106,364,338 (GRCm38)	missense	probably damaging	1.00
R4472:Phlpp1	UTSW	1	106,386,446 (GRCm38)	missense	probably damaging	1.00
R4654:Phlpp1	UTSW	1	106,339,501 (GRCm38)	missense	probably benign	0.00
R4908:Phlpp1	UTSW	1	106,389,751 (GRCm38)	missense	probably damaging	1.00
R5027:Phlpp1	UTSW	1	106,281,471 (GRCm38)	missense	probably damaging	1.00
R5199:Phlpp1	UTSW	1	106,173,394 (GRCm38)	missense	probably damaging	0.98
R5352:Phlpp1	UTSW	1	106,172,725 (GRCm38)	missense	probably benign	0.07
R5508:Phlpp1	UTSW	1	106,364,390 (GRCm38)	missense	probably benign	0.02
R5570:Phlpp1	UTSW	1	106,173,432 (GRCm38)	missense	probably benign	0.01
R5590:Phlpp1	UTSW	1	106,392,927 (GRCm38)	missense	possibly damaging	0.95
R5838:Phlpp1	UTSW	1	106,347,132 (GRCm38)	nonsense	probably null
R5955:Phlpp1	UTSW	1	106,364,230 (GRCm38)	splice site	probably null
R5992:Phlpp1	UTSW	1	106,318,993 (GRCm38)	nonsense	probably null
R6469:Phlpp1	UTSW	1	106,287,103 (GRCm38)	missense	probably damaging	1.00
R6821:Phlpp1	UTSW	1	106,386,444 (GRCm38)	missense	probably damaging	0.98
R6952:Phlpp1	UTSW	1	106,172,479 (GRCm38)	missense	probably benign	0.04
R7101:Phlpp1	UTSW	1	106,172,667 (GRCm38)	missense	possibly damaging	0.96
R7402:Phlpp1	UTSW	1	106,389,690 (GRCm38)	missense	probably damaging	1.00
R7425:Phlpp1	UTSW	1	106,392,573 (GRCm38)	missense	probably benign	0.00
R7692:Phlpp1	UTSW	1	106,281,402 (GRCm38)	missense	probably damaging	1.00
R7874:Phlpp1	UTSW	1	106,389,873 (GRCm38)	missense	probably benign	0.05
R7970:Phlpp1	UTSW	1	106,173,285 (GRCm38)	missense	probably damaging	1.00
R8080:Phlpp1	UTSW	1	106,392,976 (GRCm38)	missense	probably benign	0.00
R8133:Phlpp1	UTSW	1	106,172,792 (GRCm38)	frame shift	probably null
R8224:Phlpp1	UTSW	1	106,392,618 (GRCm38)	missense	probably damaging	1.00
R8503:Phlpp1	UTSW	1	106,392,289 (GRCm38)	missense	probably benign	0.00
R8882:Phlpp1	UTSW	1	106,392,642 (GRCm38)	missense	probably benign	0.01
R9257:Phlpp1	UTSW	1	106,172,551 (GRCm38)	missense	possibly damaging	0.85
R9472:Phlpp1	UTSW	1	106,380,349 (GRCm38)	missense	probably damaging	0.99
R9691:Phlpp1	UTSW	1	106,318,969 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACTTGTTGGCCTGCAC -3'
(R):5'- TGTATTCACTCACCTAGGAGAGAG -3'

Sequencing Primer
(F):5'- GGCCTGCACGGAATTATATAATATG -3'
(R):5'- GAGAGAAGTTCCTACCAATGAGCTC -3'

Posted On

2021-07-15