Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Phlpp2'

423158

Institutional Source

Beutler Lab

Gene Symbol

Phlpp2

Ensembl Gene

ENSMUSG00000031732

Gene Name

PH domain and leucine rich repeat protein phosphatase 2

Synonyms

C130044A18Rik, Phlppl

MMRRC Submission

042912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109868542-109944671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109934035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 774 (D774G)

Ref Sequence

ENSEMBL: ENSMUSP00000136166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034175] [ENSMUST00000179721]

AlphaFold

Q8BXA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034175
AA Change: D739G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: D739G

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Blast:PH	148	247	3e-61	BLAST
LRR	295	314	1.12e2	SMART
Pfam:LRR_7	319	335	3.5e-2	PFAM
LRR	341	363	2.82e0	SMART
LRR	364	387	9.75e0	SMART
LRR	456	479	2.68e1	SMART
LRR	498	517	1.35e1	SMART
LRR	521	540	5.59e1	SMART
LRR	544	563	2.79e1	SMART
LRR	569	589	1.62e1	SMART
LRR	590	609	1.67e1	SMART
LRR	616	641	1.33e2	SMART
LRR	640	659	1.4e1	SMART
LRR_TYP	664	687	6.78e-3	SMART
LRR	709	733	2.15e2	SMART
PP2Cc	772	1028	2.98e-30	SMART
low complexity region	1061	1095	N/A	INTRINSIC
Blast:PP2Cc	1109	1175	8e-15	BLAST
low complexity region	1297	1315	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149990

Predicted Effect

probably damaging
Transcript: ENSMUST00000179721
AA Change: D774G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: D774G

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	75	92	N/A	INTRINSIC
Blast:PH	183	282	4e-61	BLAST
LRR	330	349	1.12e2	SMART
LRR	376	398	2.82e0	SMART
LRR	399	422	9.75e0	SMART
LRR	491	514	2.68e1	SMART
LRR	533	552	1.35e1	SMART
LRR	556	575	5.59e1	SMART
LRR	579	598	2.79e1	SMART
LRR	604	624	1.62e1	SMART
LRR	625	644	1.67e1	SMART
LRR	651	676	1.33e2	SMART
LRR	675	694	1.4e1	SMART
LRR_TYP	699	722	6.78e-3	SMART
LRR	744	768	2.15e2	SMART
PP2Cc	807	1063	2.98e-30	SMART
low complexity region	1096	1130	N/A	INTRINSIC
Blast:PP2Cc	1144	1210	8e-15	BLAST
low complexity region	1332	1350	N/A	INTRINSIC

Meta Mutation Damage Score

0.6806

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,091,858		probably benign	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A2m	A	G	6: 121,638,416	D83G	probably benign	Het
Abca16	T	A	7: 120,503,377	I833N	probably benign	Het
Adam6b	C	A	12: 113,490,580	P339H	possibly damaging	Het
Adgrb2	A	T	4: 130,022,202	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,126,724	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,615,926	L500*	probably null	Het
Blm	T	C	7: 80,458,936	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,025,946		probably null	Het
Cdca7	T	C	2: 72,484,698	C311R	probably damaging	Het
Cds1	T	C	5: 101,798,495	S187P	probably damaging	Het
Chuk	A	T	19: 44,078,955	V587E	probably damaging	Het
Commd10	T	C	18: 46,960,430	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,115	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,913,989	Y203*	probably null	Het
Dchs1	A	T	7: 105,754,602	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,773,830	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,943,648	T3514A	probably benign	Het
Dnah6	T	A	6: 73,074,590	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fam131c	A	T	4: 141,382,830	T180S	probably benign	Het
Fbxo41	T	C	6: 85,479,906	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,763,546		noncoding transcript	Het
Gm10313	T	A	8: 46,255,453		noncoding transcript	Het
Gm5414	C	A	15: 101,624,664	V443F	probably damaging	Het
Gm7334	T	C	17: 50,699,132	S149P	possibly damaging	Het
Grik2	G	A	10: 49,132,771	T740M	probably damaging	Het
Hdac5	T	C	11: 102,197,354	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377	T211A	probably benign	Het
Herc4	G	T	10: 63,307,799	E703*	probably null	Het
Hivep2	A	G	10: 14,131,420	K1254R	probably damaging	Het
Hras	T	C	7: 141,192,940	M1V	probably null	Het
Ikbkap	T	C	4: 56,800,001	T42A	probably benign	Het
Il23r	T	G	6: 67,423,495	Q617P	probably damaging	Het
Kank1	A	G	19: 25,411,329	T789A	probably damaging	Het
Kcnj12	A	G	11: 61,070,186	K437E	probably benign	Het
Lct	A	T	1: 128,298,529	D1374E	probably benign	Het
Luc7l	C	A	17: 26,275,733	C104*	probably null	Het
Lurap1	G	A	4: 116,144,404	L31F	probably damaging	Het
Mark4	G	A	7: 19,436,983	P321S	probably damaging	Het
Med18	A	G	4: 132,463,066		probably benign	Het
Mia2	A	G	12: 59,095,812	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,642,934	T290A	possibly damaging	Het
Negr1	A	T	3: 157,069,276	K210*	probably null	Het
Nktr	T	C	9: 121,752,768		probably benign	Het
Nob1	T	G	8: 107,416,249	T267P	probably damaging	Het
Nos3	A	G	5: 24,369,904	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,490,081	T796A	probably damaging	Het
Nwd2	C	A	5: 63,806,516	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,533,046	V988E	probably damaging	Het
Pcdha4	G	A	18: 36,954,702	R646H	probably benign	Het
Per3	G	T	4: 151,041,302	L187I	probably damaging	Het
Pibf1	T	C	14: 99,140,646	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,509,848	A81T	probably benign	Het
Polr2a	T	C	11: 69,747,275	N123D	probably benign	Het
Psma5	T	G	3: 108,268,070	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,587,080	D189V	probably damaging	Het
Relb	C	T	7: 19,606,705	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,202,973	M1L	probably benign	Het
Rhbg	T	A	3: 88,245,468	T313S	probably benign	Het
Ripply2	T	A	9: 87,015,638		probably benign	Het
Scap	T	C	9: 110,381,633	V1011A	probably benign	Het
Scarf1	G	A	11: 75,515,580	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,186,009	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,589,494		probably null	Het
Slc22a14	A	T	9: 119,230,596	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,879,455	I406T	probably benign	Het
Slc30a6	A	G	17: 74,423,195	D355G	probably benign	Het
Snta1	C	A	2: 154,378,020	E403*	probably null	Het
Socs7	A	G	11: 97,378,026	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,700,403	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,196,208	I834N	possibly damaging	Het
Steap1	G	T	5: 5,740,422	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,413,754	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,733,528	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,146,313	A263V	probably benign	Het
Tecta	A	C	9: 42,337,856	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,277,624	M34R	possibly damaging	Het
Tnik	A	G	3: 28,542,018	T187A	probably damaging	Het
Trpv4	A	G	5: 114,635,543	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,660,332	R358C	probably benign	Het
Ttll13	T	C	7: 80,260,509	V800A	probably benign	Het
Ush2a	G	A	1: 188,728,381	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,863,960	Q420*	probably null	Het
Zranb3	G	A	1: 127,959,720	P990L	probably damaging	Het
Zswim9	T	A	7: 13,259,985	D748V	probably damaging	Het

Other mutations in Phlpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Phlpp2	APN	8	109925790	missense	probably benign	0.01
IGL01363:Phlpp2	APN	8	109937097	missense	probably benign	0.22
IGL01535:Phlpp2	APN	8	109934065	missense	possibly damaging	0.82
IGL01815:Phlpp2	APN	8	109939859	missense	probably benign
IGL02105:Phlpp2	APN	8	109904408	missense	probably damaging	1.00
IGL02257:Phlpp2	APN	8	109920099	missense	possibly damaging	0.88
IGL02318:Phlpp2	APN	8	109939873	missense	probably benign	0.04
IGL02500:Phlpp2	APN	8	109913618	missense	probably benign
IGL03356:Phlpp2	APN	8	109935617	missense	probably benign	0.00
IGL03366:Phlpp2	APN	8	109940835	missense	probably benign	0.44
R0142:Phlpp2	UTSW	8	109907513	missense	probably damaging	1.00
R0144:Phlpp2	UTSW	8	109907513	missense	probably damaging	1.00
R0374:Phlpp2	UTSW	8	109907513	missense	probably damaging	1.00
R0420:Phlpp2	UTSW	8	109939935	missense	probably damaging	0.99
R0426:Phlpp2	UTSW	8	109928463	missense	probably benign	0.01
R0477:Phlpp2	UTSW	8	109895506	critical splice acceptor site	probably null
R0529:Phlpp2	UTSW	8	109876971	missense	probably benign	0.00
R0605:Phlpp2	UTSW	8	109933211	missense	probably benign	0.00
R0655:Phlpp2	UTSW	8	109895587	missense	probably benign	0.00
R0833:Phlpp2	UTSW	8	109937106	missense	probably damaging	1.00
R0836:Phlpp2	UTSW	8	109937106	missense	probably damaging	1.00
R1394:Phlpp2	UTSW	8	109877030	nonsense	probably null
R1417:Phlpp2	UTSW	8	109940681	nonsense	probably null
R1602:Phlpp2	UTSW	8	109934023	missense	possibly damaging	0.96
R1650:Phlpp2	UTSW	8	109933955	splice site	probably benign
R1815:Phlpp2	UTSW	8	109940223	missense	probably damaging	1.00
R2045:Phlpp2	UTSW	8	109907600	missense	probably damaging	1.00
R2072:Phlpp2	UTSW	8	109928492	missense	possibly damaging	0.88
R2074:Phlpp2	UTSW	8	109928492	missense	possibly damaging	0.88
R2075:Phlpp2	UTSW	8	109928492	missense	possibly damaging	0.88
R2433:Phlpp2	UTSW	8	109940002	missense	probably damaging	1.00
R3028:Phlpp2	UTSW	8	109907613	missense	probably damaging	1.00
R4611:Phlpp2	UTSW	8	109876883	missense	possibly damaging	0.79
R4718:Phlpp2	UTSW	8	109940820	missense	probably benign	0.31
R4739:Phlpp2	UTSW	8	109940420	missense	probably damaging	1.00
R4857:Phlpp2	UTSW	8	109877010	missense	probably damaging	1.00
R5020:Phlpp2	UTSW	8	109940082	missense	probably damaging	1.00
R5047:Phlpp2	UTSW	8	109913619	missense	probably benign	0.04
R5074:Phlpp2	UTSW	8	109925829	missense	probably damaging	0.99
R5663:Phlpp2	UTSW	8	109904344	missense	probably benign	0.01
R5668:Phlpp2	UTSW	8	109928573	missense	possibly damaging	0.67
R6433:Phlpp2	UTSW	8	109934685	missense	probably benign
R6470:Phlpp2	UTSW	8	109937194	missense	probably benign	0.45
R6804:Phlpp2	UTSW	8	109928565	missense	probably damaging	1.00
R7012:Phlpp2	UTSW	8	109876854	missense	possibly damaging	0.95
R7183:Phlpp2	UTSW	8	109939953	missense	probably damaging	1.00
R7257:Phlpp2	UTSW	8	109940188	missense	probably benign
R7312:Phlpp2	UTSW	8	109940153	missense	probably damaging	0.96
R7349:Phlpp2	UTSW	8	109928646	missense	probably damaging	0.98
R7801:Phlpp2	UTSW	8	109925842	missense	possibly damaging	0.56
R8059:Phlpp2	UTSW	8	109895557	missense	probably benign	0.00
R8174:Phlpp2	UTSW	8	109868689	missense	unknown
R8242:Phlpp2	UTSW	8	109940202	missense	probably benign	0.03
R8488:Phlpp2	UTSW	8	109913570	missense	probably benign
R8688:Phlpp2	UTSW	8	109904380	missense	probably damaging	1.00
R8843:Phlpp2	UTSW	8	109925799	missense	probably benign	0.18
R9154:Phlpp2	UTSW	8	109939958	missense	possibly damaging	0.82
R9556:Phlpp2	UTSW	8	109940126	missense	probably benign
R9737:Phlpp2	UTSW	8	109937082	missense	probably damaging	0.99
R9781:Phlpp2	UTSW	8	109935546	missense	possibly damaging	0.95
R9786:Phlpp2	UTSW	8	109934023	nonsense	probably null
X0018:Phlpp2	UTSW	8	109912369	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGTTGAGGCTATAAGGG -3'
(R):5'- CACCAGATATGTATCTATGCTTGC -3'

Sequencing Primer
(F):5'- CCAGTTGAGGCTATAAGGGAAGATTG -3'
(R):5'- AGACAGGATTTCTCTGTGTAGCCC -3'

Posted On

2016-08-04