Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Phlpp2'

559112

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

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109868542-109944671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109939953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1038 (P1038Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136166 (fasta)

Gene Model

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

AlphaFold

Q8BXA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034175
AA Change: P1003Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: P1003Q

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 damaging
Transcript: ENSMUST00000179721
AA Change: P1038Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: P1038Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc42bpg	A	G	19: 6,310,797	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550		probably null	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,133,090	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	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
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
R9786:Phlpp2	UTSW	8	109934023	nonsense	probably null
X0018:Phlpp2	UTSW	8	109912369	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAACGGAGTAACCTGCTG -3'
(R):5'- AGGCAATCCCACTACTGGAG -3'

Sequencing Primer
(F):5'- AGTAACCTGCTGCACCCG -3'
(R):5'- CAATCCCACTACTGGAGGAGGG -3'

Posted On

2019-06-26