Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Phlpp1'

550799

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

045193-MU

Accession Numbers

Essential gene?

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

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106099599-106321975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106100397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 222 (V222M)

Ref Sequence

ENSEMBL: ENSMUSP00000056530 (fasta)

Gene Model

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

AlphaFold

Q8CHE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061047
AA Change: V222M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056530
Gene: ENSMUSG00000044340
AA Change: V222M

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	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
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
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
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'- AACTCGCTGCTGCTGAAGAG -3'
(R):5'- TGAAGCTCTCGGTGTCAGAG -3'

Sequencing Primer
(F):5'- CTGAAGAGGAATCTGTCGGCC -3'
(R):5'- AACAGCTCTCCGGGGCTG -3'

Posted On

2019-05-15