Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02257:Phlpp2'

286611

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: 0.249) question?

Stock #

IGL02257

Quality Score

Status

Chromosome

Chromosomal Location

110595174-110671303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110646731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 529 (V529E)

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: V494E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: V494E

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

possibly damaging
Transcript: ENSMUST00000179721
AA Change: V529E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: V529E

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	C	T	11: 116,486,535 (GRCm39)	Q25*	probably null	Het
Adam8	A	T	7: 139,567,561 (GRCm39)	V394D	possibly damaging	Het
Ahnak2	A	G	12: 112,748,905 (GRCm39)	F314S	possibly damaging	Het
Arsg	T	C	11: 109,412,473 (GRCm39)		probably benign	Het
Atp13a2	T	G	4: 140,733,400 (GRCm39)	V958G	probably benign	Het
Ces5a	T	C	8: 94,252,226 (GRCm39)	D218G	probably benign	Het
Cntnap4	T	A	8: 113,343,126 (GRCm39)	L63Q	probably damaging	Het
Cped1	A	G	6: 22,145,606 (GRCm39)	T655A	possibly damaging	Het
Ddc	A	T	11: 11,823,171 (GRCm39)	L133*	probably null	Het
Fat4	C	T	3: 39,055,288 (GRCm39)	A4169V	probably benign	Het
Gnpat	T	C	8: 125,613,587 (GRCm39)		probably benign	Het
Gpd2	A	G	2: 57,254,536 (GRCm39)	D678G	probably benign	Het
Hk1	T	C	10: 62,107,422 (GRCm39)	D851G	probably benign	Het
Hsd11b2	G	A	8: 106,249,854 (GRCm39)	V322I	probably benign	Het
Hsd17b3	G	A	13: 64,207,276 (GRCm39)	T255M	probably benign	Het
Hsp90b1	T	C	10: 86,534,453 (GRCm39)	S284G	probably damaging	Het
Med1	T	A	11: 98,071,096 (GRCm39)	I69L	probably damaging	Het
Mmut	C	T	17: 41,249,625 (GRCm39)	T200I	possibly damaging	Het
Morn3	T	G	5: 123,175,788 (GRCm39)	D200A	probably damaging	Het
Mtss1	A	G	15: 58,828,394 (GRCm39)	V173A	probably damaging	Het
Myl6b	T	C	10: 128,333,210 (GRCm39)		probably benign	Het
Nin	A	G	12: 70,149,465 (GRCm39)	V48A	possibly damaging	Het
Odr4	A	T	1: 150,262,155 (GRCm39)	I95N	probably damaging	Het
Or10w1	G	A	19: 13,632,629 (GRCm39)	V279I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Pnlip	G	A	19: 58,662,306 (GRCm39)	V151I	probably benign	Het
Pus7	A	C	5: 23,967,459 (GRCm39)	H247Q	probably damaging	Het
Setd6	T	C	8: 96,443,320 (GRCm39)	Y188H	probably damaging	Het
Siglecg	T	C	7: 43,061,328 (GRCm39)	S444P	probably benign	Het
Sox9	C	A	11: 112,675,811 (GRCm39)	H333Q	possibly damaging	Het
Specc1	T	A	11: 62,009,243 (GRCm39)	I333N	probably damaging	Het
Tmprss11e	G	A	5: 86,872,039 (GRCm39)	T59I	probably damaging	Het
Vmn2r93	A	C	17: 18,545,770 (GRCm39)		probably benign	Het
Vrk2	A	T	11: 26,484,266 (GRCm39)	V163D	probably 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
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
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

2015-04-16