Mutagenetix > Incidental Mutation

Incidental Mutation 'R0529:Phlpp2'

49057

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

038721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R0529 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109868542-109944671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109876971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 55 (S55P)

Ref Sequence

ENSEMBL: ENSMUSP00000034175 (fasta)

Gene Model

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

AlphaFold

Q8BXA7

Predicted Effect

probably benign
Transcript: ENSMUST00000034175
AA Change: S55P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: S55P

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: ENSMUST00000154262

Predicted Effect

probably benign
Transcript: ENSMUST00000179721
AA Change: S90P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: S90P

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

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

97% (58/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 8,992,396	V126I	probably benign	Het
Aasdh	A	C	5: 76,876,267	Y179*	probably null	Het
Afp	A	G	5: 90,504,395	Y415C	probably damaging	Het
Aldh5a1	G	T	13: 24,913,873	T393K	probably benign	Het
Arhgef26	T	C	3: 62,339,725	S77P	probably benign	Het
Axl	A	G	7: 25,787,287		probably benign	Het
Card10	A	G	15: 78,780,475		probably null	Het
Ccdc71l	G	A	12: 32,379,252	S90N	probably damaging	Het
Cebpa	A	T	7: 35,120,199	T261S	probably benign	Het
Cnmd	T	C	14: 79,642,041	E219G	probably benign	Het
Cntln	T	A	4: 85,067,825	L1010H	probably damaging	Het
Cul9	A	G	17: 46,520,468		probably benign	Het
Cyld	A	G	8: 88,729,759	E479G	probably benign	Het
Dmp1	A	G	5: 104,212,226	E256G	probably benign	Het
Dnmt1	T	C	9: 20,911,550	D1140G	probably damaging	Het
Drd2	A	C	9: 49,407,074	M439L	probably benign	Het
Drd3	G	A	16: 43,822,714	V438M	probably damaging	Het
Dyrk3	A	G	1: 131,130,121	I70T	probably benign	Het
Fam46c	A	G	3: 100,472,370	Y357H	probably benign	Het
Fbxo38	T	C	18: 62,505,986	K1082E	probably damaging	Het
Fbxw10	A	C	11: 62,859,845	D428A	probably damaging	Het
Fmn1	T	A	2: 113,707,853		probably benign	Het
Fmnl2	A	T	2: 53,042,365	I119F	probably damaging	Het
Frmd4a	A	G	2: 4,606,023	T995A	probably damaging	Het
Gda	T	A	19: 21,425,537	I82F	probably damaging	Het
Gpatch4	T	A	3: 88,051,276	H22Q	probably damaging	Het
Gpr55	A	G	1: 85,941,503	F119L	probably benign	Het
Gtf2i	A	T	5: 134,261,869	L425*	probably null	Het
Knstrn	T	A	2: 118,830,980		probably benign	Het
Lipo2	T	A	19: 33,746,935	I144L	probably benign	Het
Lrp1	T	C	10: 127,541,594		probably null	Het
Mtmr14	T	C	6: 113,266,252		probably benign	Het
Nsmce4a	A	T	7: 130,533,806	S345R	probably benign	Het
Oacyl	T	A	18: 65,742,219	V385D	probably damaging	Het
Olfr421-ps1	G	A	1: 174,152,130	A205T	probably benign	Het
Olfr917	A	T	9: 38,665,512	C111S	probably benign	Het
Pkhd1l1	T	A	15: 44,526,754	V1422E	possibly damaging	Het
Plcd3	T	G	11: 103,080,187	H181P	probably benign	Het
Psmc5	G	A	11: 106,261,164		probably null	Het
Psmd11	T	C	11: 80,470,689		probably benign	Het
Rab39	T	C	9: 53,686,716	Y83C	probably damaging	Het
Ric8a	A	G	7: 140,860,893	E93G	probably damaging	Het
Rtp3	T	C	9: 110,987,084	E133G	possibly damaging	Het
Serpina1e	A	C	12: 103,949,104	L281R	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Tmem63a	A	T	1: 180,961,094	E332V	probably benign	Het
Tnk1	T	C	11: 69,855,164	T312A	probably damaging	Het
Traf3ip3	G	T	1: 193,194,811		probably benign	Het
Trappc11	A	G	8: 47,526,979	V174A	possibly damaging	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn1r7	T	A	6: 57,024,465	Y270F	possibly damaging	Het
Vmn2r12	A	G	5: 109,092,848	V133A	probably benign	Het
Vmn2r18	T	A	5: 151,562,523	E502V	probably damaging	Het
Wipf3	C	A	6: 54,485,363	P186Q	probably damaging	Het
Yipf5	A	T	18: 40,212,162	M55K	probably benign	Het
Zbtb7a	G	A	10: 81,143,986	V5M	probably damaging	Het
Zfy1	G	T	Y: 726,040	S575Y	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
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
R5330:Phlpp2	UTSW	8	109934035	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'- AGGACGGAACACATGCAATTCAGAC -3'
(R):5'- AGGAGAGCAGCTCTTGACTCAAAAC -3'

Sequencing Primer
(F):5'- CACATGCAATTCAGACAAATGTTC -3'
(R):5'- GCTCTTGACTCAAAACAAGATAAAAC -3'

Posted On

2013-06-12