Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Phlpp2'

734337

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109868542-109944671 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 109934023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 770 (L770*)

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: L735*

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: L735*

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: L770*

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: L770*

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,684	D441N	possibly damaging	Het
A4gnt	T	A	9: 99,620,483	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,405,063	S243P	probably damaging	Het
Acsl1	T	C	8: 46,521,449	Y320H	probably damaging	Het
Adam11	A	G	11: 102,762,264	S61G	probably benign	Het
Adamts1	G	A	16: 85,795,414	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,479,197	M190K	probably damaging	Het
Ankrd2	T	A	19: 42,044,919	L300Q		Het
Ankrd27	A	T	7: 35,591,869	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798	I114K	probably damaging	Het
Atrn	A	T	2: 130,944,889	I205F	probably damaging	Het
BC035947	A	G	1: 78,511,924		probably benign	Het
Boc	C	T	16: 44,491,329	R677H		Het
D3Ertd254e	T	A	3: 36,165,704	C625*	probably null	Het
Dpysl3	G	T	18: 43,329,857	T485K	probably damaging	Het
Esyt3	T	C	9: 99,311,985	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,564,436	T478I	probably damaging	Het
Fam26f	A	G	10: 34,127,647	F88S	probably benign	Het
Foxd2	G	T	4: 114,907,653	T390K	possibly damaging	Het
Furin	A	G	7: 80,390,897	V731A	probably benign	Het
Gm6583	T	A	5: 112,355,073	E255V	probably benign	Het
Grin2a	T	A	16: 9,653,602	I601F	possibly damaging	Het
Hat1	G	A	2: 71,420,615	R169Q	possibly damaging	Het
Ighe	G	C	12: 113,273,231	Q6E		Het
Ighv8-2	T	C	12: 114,462,559	I31V	probably benign	Het
Klk1	A	G	7: 44,228,680	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,497,984	D1054G	probably benign	Het
Lamp5	A	T	2: 136,069,078	I244F	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mfsd4b1	T	C	10: 40,002,869	E344G	probably damaging	Het
Mns1	A	G	9: 72,439,274	K13R	probably benign	Het
Mrpl43	C	T	19: 45,005,907	S91N	probably benign	Het
Mtbp	T	C	15: 55,617,636	S706P	probably benign	Het
Nelfb	A	T	2: 25,205,133	V348D	probably damaging	Het
Olfr1049	G	A	2: 86,255,084	S203L	probably benign	Het
Olfr281	T	C	15: 98,456,832	I174T	possibly damaging	Het
Olfr355	T	A	2: 36,927,404	K237*	probably null	Het
Olfr497	A	T	7: 108,422,717	I49F	probably benign	Het
Olfr835	C	T	9: 19,035,945	A274V	possibly damaging	Het
Pde6c	T	C	19: 38,151,561	I324T	possibly damaging	Het
Pik3c2b	T	A	1: 133,091,600	F1029I	possibly damaging	Het
Rfx2	A	T	17: 56,780,890	S500R	probably benign	Het
Sarm1	T	C	11: 78,474,917	M761V	probably benign	Het
Serpina1a	A	G	12: 103,855,881	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,337,991	G377V	probably damaging	Het
Slc38a4	T	A	15: 97,008,497	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,530,280	F384S	probably benign	Het
Smyd4	T	C	11: 75,390,799	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,718,341	V1101D	possibly damaging	Het
Stab2	C	A	10: 86,922,133	M1090I	probably benign	Het
Tex15	C	T	8: 33,572,429	T903I	probably damaging	Het
Tgds	A	T	14: 118,130,637	Y41*	probably null	Het
Tle4	G	T	19: 14,517,940	H142N	probably benign	Het
Tlx2	T	C	6: 83,069,293		probably null	Het
Tmem151a	C	G	19: 5,081,841	A446P	probably damaging	Het
Tmem205	A	T	9: 21,921,200	D138E	probably damaging	Het
Tmem57	A	T	4: 134,830,682	Y173*	probably null	Het
Tmprss9	A	G	10: 80,898,208	K1009E	unknown	Het
Tnk2	T	A	16: 32,680,057	C729*	probably null	Het
Trim46	T	A	3: 89,235,092	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,618,756	R84Q	probably benign	Het
Unc119b	C	T	5: 115,125,462	D228N	probably damaging	Het
Usp17la	A	G	7: 104,861,657	T490A	probably benign	Het
Zfp687	C	T	3: 95,012,457	M1I	probably null	Het
Zfp729a	T	C	13: 67,620,509	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,583,590	H305L	probably benign	Het
Zscan10	C	T	17: 23,609,356	Q291*	probably null	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
R2072:Phlpp2	UTSW	8	109928492	missense	possibly damaging	0.88
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
X0018:Phlpp2	UTSW	8	109912369	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGGAAAGAAATAAGTTCCCAG -3'
(R):5'- CTGCCACCAGATATGTATCTATGC -3'

Sequencing Primer
(F):5'- AGTTCCCAGTTGAGGCTATAAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2022-11-14