Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Phlpp2'

227239

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

040077-MU

Accession Numbers

Essential gene?

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

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109868542-109944671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109928492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 605 (S605P)

Ref Sequence

ENSEMBL: ENSMUSP00000034175 (fasta)

Gene Model

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

AlphaFold

Q8BXA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034175
AA Change: S605P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: S605P

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

possibly damaging
Transcript: ENSMUST00000179721
AA Change: S640P

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: S640P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
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'- ATGCAGCCATTACAGAATGCTAG -3'
(R):5'- TCACTCACCTTGCAGGGAAG -3'

Sequencing Primer
(F):5'- GAAAAATAGCCATGCCTGTGTTCC -3'
(R):5'- TCACCTTGCAGGGAAGGTCTG -3'

Posted On

2014-09-17