Mutagenetix > Incidental Mutation

Incidental Mutation 'R1417:Phlpp2'

159857

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

039473-MU

Accession Numbers

Essential gene?

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

Stock #

R1417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110595174-110671303 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 110667313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1281 (E1281*)

Ref Sequence

ENSEMBL: ENSMUSP00000136166 (fasta)

Gene Model

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

AlphaFold

Q8BXA7

Predicted Effect

probably null
Transcript: ENSMUST00000034175
AA Change: E1246*

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: E1246*

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

probably null
Transcript: ENSMUST00000179721
AA Change: E1281*

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: E1281*

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: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.8%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	A	G	16: 29,117,053 (GRCm39)	V565A	probably benign	Het
Atp6v1b1	T	C	6: 83,730,862 (GRCm39)	S196P	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Clu	T	A	14: 66,212,420 (GRCm39)	Y124*	probably null	Het
Cnnm1	A	G	19: 43,458,162 (GRCm39)	E658G	probably benign	Het
Dnah9	T	C	11: 65,846,573 (GRCm39)	E2913G	probably damaging	Het
Edc4	G	A	8: 106,614,487 (GRCm39)		probably null	Het
Enox1	C	T	14: 77,723,445 (GRCm39)		probably benign	Het
G6pc2	T	C	2: 69,053,312 (GRCm39)	V122A	probably damaging	Het
Galns	T	C	8: 123,311,652 (GRCm39)	S453G	possibly damaging	Het
Gm12185	A	C	11: 48,798,669 (GRCm39)	V608G	probably damaging	Het
Hbq1a	A	G	11: 32,250,722 (GRCm39)	D135G	probably benign	Het
Hspg2	A	G	4: 137,244,947 (GRCm39)	T891A	probably benign	Het
Ift172	T	C	5: 31,413,993 (GRCm39)	Y1445C	probably damaging	Het
Ipo8	C	T	6: 148,719,550 (GRCm39)	D132N	probably benign	Het
Klhl11	T	C	11: 100,363,115 (GRCm39)	E147G	probably benign	Het
Kmt2d	A	T	15: 98,764,311 (GRCm39)	V41D	probably damaging	Het
Lrp1b	T	C	2: 40,894,653 (GRCm39)	I2306V	probably benign	Het
Lrp5	A	G	19: 3,636,425 (GRCm39)	V1514A	probably benign	Het
Lrrtm2	A	T	18: 35,347,011 (GRCm39)	I97N	probably damaging	Het
Mtmr3	C	A	11: 4,437,923 (GRCm39)	V844L	probably benign	Het
Myh8	A	G	11: 67,197,011 (GRCm39)	E1832G	probably damaging	Het
Or4n5	T	A	14: 50,133,020 (GRCm39)	R80*	probably null	Het
Pcdhb16	A	G	18: 37,611,180 (GRCm39)	T47A	probably benign	Het
Pfkp	T	C	13: 6,655,755 (GRCm39)	K293E	probably benign	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Slc8a1	T	G	17: 81,715,709 (GRCm39)	M775L	probably damaging	Het
Stx12	A	G	4: 132,587,853 (GRCm39)		probably null	Het
Syt11	A	T	3: 88,669,289 (GRCm39)	I201N	probably damaging	Het
Ttc21a	A	G	9: 119,783,327 (GRCm39)	N543S	probably damaging	Het
Usf3	A	G	16: 44,037,812 (GRCm39)	N764S	probably benign	Het
Xylb	A	G	9: 119,193,606 (GRCm39)	D100G	probably benign	Het
Zfp423	T	C	8: 88,500,284 (GRCm39)		probably null	Het
Zkscan16	T	C	4: 58,952,377 (GRCm39)	V225A	probably benign	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
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
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'- AGTCATAACCAACGGCAGCAGG -3'
(R):5'- GTCCACACGAGAGGTACAATCACAG -3'

Sequencing Primer
(F):5'- TAGACATCCATTGCTGCCGAG -3'
(R):5'- AGTGCTGTATCAAACTCCTCCAG -3'

Posted On

2014-03-14