Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Phlpp1'

166937

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

040870-MU

Accession Numbers

Essential gene?

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

Stock #

R1521 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

106099599-106321975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106320049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1348 (V1348A)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061047
AA Change: V1348A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: V1348A

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,713,867 (GRCm39)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,741,443 (GRCm39)	V360A	probably benign	Het
Ahnak	G	A	19: 8,982,092 (GRCm39)	M1125I	probably benign	Het
Akap12	T	C	10: 4,304,804 (GRCm39)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,242,749 (GRCm39)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,517,689 (GRCm39)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,917,654 (GRCm39)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,616,328 (GRCm39)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,619,163 (GRCm39)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm39)	E96G	probably damaging	Het
Ccdc78	G	T	17: 26,007,755 (GRCm39)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Cog7	C	T	7: 121,529,797 (GRCm39)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,164,690 (GRCm39)	V115A	probably benign	Het
Crybg1	A	G	10: 43,874,412 (GRCm39)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,879,461 (GRCm39)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,795,621 (GRCm39)	K780E	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,515,946 (GRCm39)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,182,014 (GRCm39)		noncoding transcript	Het
Dppa1	T	A	11: 46,501,300 (GRCm39)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,289,197 (GRCm39)	T241S	probably benign	Het
Eya1	G	T	1: 14,344,774 (GRCm39)	Q86K	probably damaging	Het
Fam110d	T	C	4: 133,978,661 (GRCm39)	*272W	probably null	Het
Fancm	A	T	12: 65,168,478 (GRCm39)	M1614L	probably benign	Het
Fcgbp	C	T	7: 27,774,585 (GRCm39)	T53I	probably benign	Het
Fpr3	T	A	17: 18,191,277 (GRCm39)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,744,657 (GRCm39)	V119I	probably benign	Het
Garin4	T	A	1: 190,896,219 (GRCm39)	R141S	probably benign	Het
Gcfc2	T	C	6: 81,900,793 (GRCm39)	S36P	probably benign	Het
Gdap2	T	A	3: 100,101,931 (GRCm39)	D412E	possibly damaging	Het
Gm12258	T	C	11: 58,750,381 (GRCm39)	C41R	probably damaging	Het
Hipk1	T	G	3: 103,685,098 (GRCm39)	E172D	probably benign	Het
Hmgcs1	T	G	13: 120,165,127 (GRCm39)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,107,967 (GRCm39)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,564,573 (GRCm39)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,146,661 (GRCm39)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,793,680 (GRCm39)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,111,558 (GRCm39)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,227,309 (GRCm39)	C39Y	probably damaging	Het
Kif22	G	T	7: 126,627,011 (GRCm39)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,141,307 (GRCm39)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,354,108 (GRCm39)		probably null	Het
Klhl9	A	G	4: 88,640,230 (GRCm39)	S4P	probably benign	Het
Klk10	A	G	7: 43,432,304 (GRCm39)	Q79R	probably benign	Het
Klk6	T	C	7: 43,478,699 (GRCm39)		probably null	Het
Kpna2rt	T	A	17: 90,217,734 (GRCm39)	N4I	possibly damaging	Het
Lamc2	C	T	1: 153,042,009 (GRCm39)	E42K	probably benign	Het
Lingo3	T	C	10: 80,671,555 (GRCm39)	D125G	probably benign	Het
Map1b	T	C	13: 99,569,247 (GRCm39)	N1158S	unknown	Het
Masp1	T	A	16: 23,313,387 (GRCm39)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,615,700 (GRCm39)	Y636H	probably benign	Het
Mical2	T	A	7: 111,980,817 (GRCm39)	S264T	probably damaging	Het
Mif	A	G	10: 75,695,375 (GRCm39)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,672,152 (GRCm39)		probably null	Het
Mmp23	T	C	4: 155,735,174 (GRCm39)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,257,142 (GRCm39)	S800R	possibly damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,856,488 (GRCm39)	S67R	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or10d3	A	T	9: 39,462,080 (GRCm39)	V29E	possibly damaging	Het
Or4a47	G	A	2: 89,665,516 (GRCm39)	R258*	probably null	Het
Or52s1b	T	A	7: 102,822,658 (GRCm39)	Y62F	probably benign	Het
Or5k1b	C	T	16: 58,581,216 (GRCm39)	E108K	probably damaging	Het
Or7e176	A	C	9: 20,171,728 (GRCm39)	Q197H	possibly damaging	Het
Or7g27	C	T	9: 19,249,948 (GRCm39)	S64F	probably benign	Het
Or8b51	T	G	9: 38,569,014 (GRCm39)	I225L	probably damaging	Het
Otog	A	T	7: 45,908,688 (GRCm39)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,430,023 (GRCm39)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,150,592 (GRCm39)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 108,836,373 (GRCm39)	T134P	probably damaging	Het
Phc3	G	T	3: 30,990,724 (GRCm39)	Q498K	possibly damaging	Het
Pik3ap1	T	C	19: 41,309,997 (GRCm39)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,792,239 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,733,437 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,434 (GRCm39)	I376N	probably damaging	Het
Pold2	T	A	11: 5,826,833 (GRCm39)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,521,320 (GRCm39)	L281P	probably damaging	Het
Prss46	A	G	9: 110,678,703 (GRCm39)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,788,846 (GRCm39)	V502E	probably benign	Het
Rdh14	T	C	12: 10,444,613 (GRCm39)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 85,692,487 (GRCm39)		probably null	Het
Rpp30	A	G	19: 36,071,785 (GRCm39)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm39)	F117L	probably damaging	Het
Rxylt1	A	G	10: 121,926,384 (GRCm39)	W243R	probably damaging	Het
S100a2	T	A	3: 90,498,599 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,141,559 (GRCm39)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,678,415 (GRCm39)	K27R	probably damaging	Het
Spata17	T	A	1: 186,926,191 (GRCm39)	K46N	probably damaging	Het
St14	A	C	9: 31,019,511 (GRCm39)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,575,173 (GRCm39)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,002,844 (GRCm39)	V831A	probably damaging	Het
Tert	A	G	13: 73,790,175 (GRCm39)	E843G	probably damaging	Het
Tex21	A	G	12: 76,251,044 (GRCm39)	V464A	probably benign	Het
Tmem232	T	A	17: 65,791,496 (GRCm39)	H124L	probably damaging	Het
Tnfrsf19	T	G	14: 61,242,555 (GRCm39)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,069,562 (GRCm39)	K272*	probably null	Het
Tnxb	T	C	17: 34,930,477 (GRCm39)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,149,748 (GRCm39)	D440A	probably benign	Het
Trpm3	A	G	19: 22,878,585 (GRCm39)	E504G	probably damaging	Het
Trpm5	C	T	7: 142,636,626 (GRCm39)	R437H	probably benign	Het
Ttn	T	C	2: 76,571,511 (GRCm39)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,674,160 (GRCm39)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,550,751 (GRCm39)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,683,048 (GRCm39)	C452*	probably null	Het
Uvssa	G	A	5: 33,571,278 (GRCm39)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,741,248 (GRCm39)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,225,137 (GRCm39)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,261,788 (GRCm39)	H183P	probably damaging	Het
Vps13d	G	T	4: 144,832,431 (GRCm39)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,024 (GRCm39)	I179F	probably benign	Het
Zfp112	A	G	7: 23,825,210 (GRCm39)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,367,859 (GRCm39)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,260,071 (GRCm39)		probably null	Het
Zfp668	C	T	7: 127,466,252 (GRCm39)	E311K	probably benign	Het
Zfp763	T	A	17: 33,252,276 (GRCm39)	M1L	probably benign	Het
Zfp947	A	T	17: 22,364,813 (GRCm39)	M287K	probably benign	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
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
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'- GTCAATGGAGTGACAGAGTCCACG -3'
(R):5'- ATCTCAGATGCCATGCCACTGC -3'

Sequencing Primer
(F):5'- AGAGTCCACGCGCATCC -3'
(R):5'- CCTTGATGACCATGTTGACGG -3'

Posted On

2014-04-13