Mutagenetix > Incidental Mutation

Incidental Mutation 'R0426:Phlpp2'

38657

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

038628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R0426 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

110595174-110671303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110655095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 630 (Y630C)

Ref Sequence

ENSEMBL: ENSMUSP00000136166 (fasta)

Gene Model

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

AlphaFold

Q8BXA7

Predicted Effect

probably benign
Transcript: ENSMUST00000034175
AA Change: Y595C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: Y595C

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 benign
Transcript: ENSMUST00000179721
AA Change: Y630C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: Y630C

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

0.0599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,845,853 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,880,805 (GRCm39)	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,530,030 (GRCm39)	D222G	probably benign	Het
Anapc15	A	G	7: 101,547,240 (GRCm39)	T39A	probably benign	Het
Ano3	A	T	2: 110,491,519 (GRCm39)	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,882,286 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,003,658 (GRCm39)	I1091N	probably benign	Het
Atf1	A	T	15: 100,130,708 (GRCm39)	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,434,482 (GRCm39)	M252T	probably benign	Het
Btbd8	C	T	5: 107,658,239 (GRCm39)	T1603I	probably damaging	Het
Cd55	C	T	1: 130,376,109 (GRCm39)	R347H	probably benign	Het
Cdc27	A	C	11: 104,403,853 (GRCm39)		probably null	Het
Cdh9	G	A	15: 16,823,540 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,726,969 (GRCm39)		probably benign	Het
Cep70	A	G	9: 99,179,737 (GRCm39)	D567G	probably benign	Het
Cep78	A	T	19: 15,948,334 (GRCm39)	Y382*	probably null	Het
Cgas	G	A	9: 78,343,020 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,901,857 (GRCm39)		probably benign	Het
Cyp2d12	G	A	15: 82,443,164 (GRCm39)	D409N	probably benign	Het
Ddx39a	A	G	8: 84,448,398 (GRCm39)	T217A	probably benign	Het
Dennd1b	T	A	1: 139,097,934 (GRCm39)	D733E	probably benign	Het
Dicer1	A	G	12: 104,668,801 (GRCm39)	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,542,795 (GRCm39)	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,840,875 (GRCm39)		probably benign	Het
Dysf	T	C	6: 84,126,739 (GRCm39)	L1332P	probably damaging	Het
F5	A	G	1: 164,010,409 (GRCm39)	D380G	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Fhip1b	A	C	7: 105,038,680 (GRCm39)	C186W	probably damaging	Het
Galr2	C	A	11: 116,172,517 (GRCm39)	A69D	probably damaging	Het
Grk2	T	C	19: 4,340,628 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,262,188 (GRCm39)	Y1119*	probably null	Het
Hgd	A	T	16: 37,409,047 (GRCm39)		probably benign	Het
Ildr2	G	T	1: 166,136,468 (GRCm39)	V436L	probably benign	Het
Intu	G	A	3: 40,629,735 (GRCm39)	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,929,870 (GRCm39)	P268T	probably benign	Het
Jarid2	T	C	13: 44,994,358 (GRCm39)		probably null	Het
Jup	A	T	11: 100,263,227 (GRCm39)	M716K	probably benign	Het
Kank1	G	A	19: 25,388,837 (GRCm39)	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,217,720 (GRCm39)		probably benign	Het
Kdm3a	C	T	6: 71,577,739 (GRCm39)	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437 (GRCm39)		probably benign	Het
Kifap3	T	A	1: 163,693,121 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,377,453 (GRCm39)	K1400*	probably null	Het
Majin	A	G	19: 6,262,147 (GRCm39)		probably benign	Het
Mctp1	A	G	13: 77,168,940 (GRCm39)	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,113,875 (GRCm39)	I286F	possibly damaging	Het
Neil3	T	G	8: 54,062,431 (GRCm39)		probably benign	Het
Nox3	G	T	17: 3,745,838 (GRCm39)	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,860,797 (GRCm39)	K219E	probably benign	Het
Or1e29	T	A	11: 73,667,263 (GRCm39)	M297L	probably benign	Het
Or52b4i	T	A	7: 102,191,893 (GRCm39)	I250N	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6b13	A	C	7: 139,782,029 (GRCm39)	F218C	possibly damaging	Het
Or6d13	A	T	6: 116,517,446 (GRCm39)	N11Y	probably damaging	Het
Or8g34	T	C	9: 39,372,889 (GRCm39)	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,263,996 (GRCm39)	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,475,857 (GRCm39)	E331V	probably damaging	Het
Pcid2	A	C	8: 13,131,262 (GRCm39)		probably null	Het
Pcsk9	T	C	4: 106,307,274 (GRCm39)	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801 (GRCm38)	E203G	probably damaging	Het
Pidd1	C	T	7: 141,019,046 (GRCm39)	A812T	probably damaging	Het
Plau	G	A	14: 20,892,382 (GRCm39)	R389H	probably benign	Het
Plekhg6	G	A	6: 125,341,592 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,322 (GRCm39)	Y321C	probably damaging	Het
Pxdn	A	G	12: 30,037,065 (GRCm39)	N281S	possibly damaging	Het
Pycr3	A	T	15: 75,790,237 (GRCm39)	M138K	probably benign	Het
Radil	T	C	5: 142,483,628 (GRCm39)	Y526C	probably damaging	Het
Ranbp3	C	A	17: 57,014,169 (GRCm39)	D233E	probably benign	Het
Rhpn1	A	G	15: 75,583,721 (GRCm39)	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,410,532 (GRCm39)		probably benign	Het
Sel1l2	A	T	2: 140,082,832 (GRCm39)	L602*	probably null	Het
Sema5b	G	A	16: 35,466,725 (GRCm39)	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333 (GRCm39)	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,338,312 (GRCm39)		probably benign	Het
Synj1	G	T	16: 90,764,242 (GRCm39)	A65E	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tecrl	T	C	5: 83,502,610 (GRCm39)		probably benign	Het
Tenm4	G	T	7: 96,427,058 (GRCm39)	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,181 (GRCm39)	L259F	probably damaging	Het
Tmem247	G	A	17: 87,225,931 (GRCm39)	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,830,221 (GRCm39)	A218E	probably damaging	Het
Tppp	T	A	13: 74,169,430 (GRCm39)	F57I	probably damaging	Het
Trim36	A	G	18: 46,305,592 (GRCm39)	W452R	probably damaging	Het
Vars2	A	T	17: 35,975,476 (GRCm39)	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zfp516	G	T	18: 82,973,897 (GRCm39)	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348 (GRCm39)	L429I	possibly damaging	Het

Other mutations in Phlpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Phlpp2	APN	8	110,652,422 (GRCm39)	missense	probably benign	0.01
IGL01363:Phlpp2	APN	8	110,663,729 (GRCm39)	missense	probably benign	0.22
IGL01535:Phlpp2	APN	8	110,660,697 (GRCm39)	missense	possibly damaging	0.82
IGL01815:Phlpp2	APN	8	110,666,491 (GRCm39)	missense	probably benign
IGL02105:Phlpp2	APN	8	110,631,040 (GRCm39)	missense	probably damaging	1.00
IGL02257:Phlpp2	APN	8	110,646,731 (GRCm39)	missense	possibly damaging	0.88
IGL02318:Phlpp2	APN	8	110,666,505 (GRCm39)	missense	probably benign	0.04
IGL02500:Phlpp2	APN	8	110,640,250 (GRCm39)	missense	probably benign
IGL03356:Phlpp2	APN	8	110,662,249 (GRCm39)	missense	probably benign	0.00
IGL03366:Phlpp2	APN	8	110,667,467 (GRCm39)	missense	probably benign	0.44
R0142:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0144:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0374:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0420:Phlpp2	UTSW	8	110,666,567 (GRCm39)	missense	probably damaging	0.99
R0477:Phlpp2	UTSW	8	110,622,138 (GRCm39)	critical splice acceptor site	probably null
R0529:Phlpp2	UTSW	8	110,603,603 (GRCm39)	missense	probably benign	0.00
R0605:Phlpp2	UTSW	8	110,659,843 (GRCm39)	missense	probably benign	0.00
R0655:Phlpp2	UTSW	8	110,622,219 (GRCm39)	missense	probably benign	0.00
R0833:Phlpp2	UTSW	8	110,663,738 (GRCm39)	missense	probably damaging	1.00
R0836:Phlpp2	UTSW	8	110,663,738 (GRCm39)	missense	probably damaging	1.00
R1394:Phlpp2	UTSW	8	110,603,662 (GRCm39)	nonsense	probably null
R1417:Phlpp2	UTSW	8	110,667,313 (GRCm39)	nonsense	probably null
R1602:Phlpp2	UTSW	8	110,660,655 (GRCm39)	missense	possibly damaging	0.96
R1650:Phlpp2	UTSW	8	110,660,587 (GRCm39)	splice site	probably benign
R1815:Phlpp2	UTSW	8	110,666,855 (GRCm39)	missense	probably damaging	1.00
R2045:Phlpp2	UTSW	8	110,634,232 (GRCm39)	missense	probably damaging	1.00
R2072:Phlpp2	UTSW	8	110,655,124 (GRCm39)	missense	possibly damaging	0.88
R2074:Phlpp2	UTSW	8	110,655,124 (GRCm39)	missense	possibly damaging	0.88
R2075:Phlpp2	UTSW	8	110,655,124 (GRCm39)	missense	possibly damaging	0.88
R2433:Phlpp2	UTSW	8	110,666,634 (GRCm39)	missense	probably damaging	1.00
R3028:Phlpp2	UTSW	8	110,634,245 (GRCm39)	missense	probably damaging	1.00
R4611:Phlpp2	UTSW	8	110,603,515 (GRCm39)	missense	possibly damaging	0.79
R4718:Phlpp2	UTSW	8	110,667,452 (GRCm39)	missense	probably benign	0.31
R4739:Phlpp2	UTSW	8	110,667,052 (GRCm39)	missense	probably damaging	1.00
R4857:Phlpp2	UTSW	8	110,603,642 (GRCm39)	missense	probably damaging	1.00
R5020:Phlpp2	UTSW	8	110,666,714 (GRCm39)	missense	probably damaging	1.00
R5047:Phlpp2	UTSW	8	110,640,251 (GRCm39)	missense	probably benign	0.04
R5074:Phlpp2	UTSW	8	110,652,461 (GRCm39)	missense	probably damaging	0.99
R5330:Phlpp2	UTSW	8	110,660,667 (GRCm39)	missense	probably damaging	0.99
R5663:Phlpp2	UTSW	8	110,630,976 (GRCm39)	missense	probably benign	0.01
R5668:Phlpp2	UTSW	8	110,655,205 (GRCm39)	missense	possibly damaging	0.67
R6433:Phlpp2	UTSW	8	110,661,317 (GRCm39)	missense	probably benign
R6470:Phlpp2	UTSW	8	110,663,826 (GRCm39)	missense	probably benign	0.45
R6804:Phlpp2	UTSW	8	110,655,197 (GRCm39)	missense	probably damaging	1.00
R7012:Phlpp2	UTSW	8	110,603,486 (GRCm39)	missense	possibly damaging	0.95
R7183:Phlpp2	UTSW	8	110,666,585 (GRCm39)	missense	probably damaging	1.00
R7257:Phlpp2	UTSW	8	110,666,820 (GRCm39)	missense	probably benign
R7312:Phlpp2	UTSW	8	110,666,785 (GRCm39)	missense	probably damaging	0.96
R7349:Phlpp2	UTSW	8	110,655,278 (GRCm39)	missense	probably damaging	0.98
R7801:Phlpp2	UTSW	8	110,652,474 (GRCm39)	missense	possibly damaging	0.56
R8059:Phlpp2	UTSW	8	110,622,189 (GRCm39)	missense	probably benign	0.00
R8174:Phlpp2	UTSW	8	110,595,321 (GRCm39)	missense	unknown
R8242:Phlpp2	UTSW	8	110,666,834 (GRCm39)	missense	probably benign	0.03
R8488:Phlpp2	UTSW	8	110,640,202 (GRCm39)	missense	probably benign
R8688:Phlpp2	UTSW	8	110,631,012 (GRCm39)	missense	probably damaging	1.00
R8843:Phlpp2	UTSW	8	110,652,431 (GRCm39)	missense	probably benign	0.18
R9154:Phlpp2	UTSW	8	110,666,590 (GRCm39)	missense	possibly damaging	0.82
R9556:Phlpp2	UTSW	8	110,666,758 (GRCm39)	missense	probably benign
R9737:Phlpp2	UTSW	8	110,663,714 (GRCm39)	missense	probably damaging	0.99
R9781:Phlpp2	UTSW	8	110,662,178 (GRCm39)	missense	possibly damaging	0.95
R9786:Phlpp2	UTSW	8	110,660,655 (GRCm39)	nonsense	probably null
X0018:Phlpp2	UTSW	8	110,639,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTACGGTGGCCTTGGCAATG -3'
(R):5'- AAGGACCAGCCTTTGTGCTCACTC -3'

Sequencing Primer
(F):5'- AAAATAGCCATGCCTGTGTTCC -3'
(R):5'- TTGCAGGGAAGGTCTGGAG -3'

Posted On

2013-05-23