Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03356:Phlpp2'

419948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phlpp2

Ensembl Gene

ENSMUSG00000031732

Gene Name

PH domain and leucine rich repeat protein phosphatase 2

Synonyms

C130044A18Rik, Phlppl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL03356

Quality Score

Status

Chromosome

Chromosomal Location

110595174-110671303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110662249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 879 (T879A)

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: T844A

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

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: T844A

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: T879A

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

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: T879A

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	C	15: 60,791,737 (GRCm39)	M233R	probably benign	Het
Aadat	T	C	8: 60,984,725 (GRCm39)	M256T	probably damaging	Het
Adamts16	T	C	13: 70,901,410 (GRCm39)	N889S	probably benign	Het
Camkk2	A	T	5: 122,881,937 (GRCm39)	I235N	probably damaging	Het
Card6	C	T	15: 5,129,723 (GRCm39)	A558T	probably benign	Het
Ccdc175	T	G	12: 72,186,667 (GRCm39)		probably null	Het
Crot	A	G	5: 9,038,295 (GRCm39)		probably benign	Het
Cyp2c67	A	G	19: 39,628,405 (GRCm39)	S180P	probably damaging	Het
Ddx55	A	G	5: 124,692,816 (GRCm39)	N81S	possibly damaging	Het
Dennd3	C	T	15: 73,440,482 (GRCm39)	T1171M	probably benign	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dpp8	T	A	9: 64,953,069 (GRCm39)	N248K	probably benign	Het
Ganc	T	C	2: 120,265,769 (GRCm39)	I439T	probably benign	Het
Gdpgp1	T	C	7: 79,888,443 (GRCm39)	I158T	possibly damaging	Het
Grm3	T	C	5: 9,562,206 (GRCm39)	D548G	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,514 (GRCm39)		probably benign	Het
Hecw2	A	G	1: 53,966,217 (GRCm39)		probably benign	Het
Hs3st2	A	G	7: 120,992,389 (GRCm39)	E113G	probably damaging	Het
Hspa4	C	A	11: 53,160,627 (GRCm39)	R483L	probably damaging	Het
Ik	C	A	18: 36,889,657 (GRCm39)	S490R	probably damaging	Het
Ldlrad1	G	A	4: 107,072,035 (GRCm39)	V86M	possibly damaging	Het
Mfsd4b1	A	C	10: 39,878,827 (GRCm39)	F357V	probably damaging	Het
Ndufa9	A	G	6: 126,821,813 (GRCm39)	V54A	possibly damaging	Het
Nfe2l2	A	G	2: 75,509,544 (GRCm39)	I92T	probably benign	Het
Oas1a	A	G	5: 121,043,908 (GRCm39)	S75P	probably damaging	Het
Oca2	T	G	7: 56,185,716 (GRCm39)	M814R	probably benign	Het
Potefam3e	A	G	8: 19,799,463 (GRCm39)	I304V	probably benign	Het
Rpe65	A	T	3: 159,321,214 (GRCm39)	Y342F	possibly damaging	Het
Satb2	T	C	1: 56,930,333 (GRCm39)	K230R	probably damaging	Het
Slc4a4	A	G	5: 89,270,342 (GRCm39)	T297A	probably benign	Het
Slpi	T	C	2: 164,198,129 (GRCm39)	T22A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Synj1	A	G	16: 90,784,280 (GRCm39)	F286S	probably damaging	Het
Tektl1	A	G	10: 78,582,966 (GRCm39)	C473R	possibly damaging	Het
Tigd2	T	A	6: 59,188,690 (GRCm39)	I519K	probably benign	Het
Tyr	G	T	7: 87,141,922 (GRCm39)	L136I	possibly damaging	Het
Vmn1r34	A	T	6: 66,613,970 (GRCm39)	M256K	probably benign	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	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
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
R0426:Phlpp2	UTSW	8	110,655,095 (GRCm39)	missense	probably benign	0.01
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

Posted On

2016-08-02