Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03263:Ppp2r2d'

414951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r2d

Ensembl Gene

ENSMUSG00000041769

Gene Name

protein phosphatase 2, regulatory subunit B, delta

Synonyms

1300017E19Rik, D7Ertd753e, MDS026

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL03263

Quality Score

Status

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 138474651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 11 (R11*)

Ref Sequence

ENSEMBL: ENSMUSP00000119004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041097] [ENSMUST00000136824] [ENSMUST00000148453] [ENSMUST00000155672]

AlphaFold

Q925E7

Predicted Effect

probably null
Transcript: ENSMUST00000041097
AA Change: R176*

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: R176*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WD40	27	62	1.91e1	SMART
WD40	89	129	4.77e0	SMART
WD40	171	210	1.19e0	SMART
WD40	221	261	1.91e1	SMART
WD40	280	318	4.11e1	SMART
WD40	345	376	2.54e2	SMART
WD40	412	449	3.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128157

Predicted Effect

probably benign
Transcript: ENSMUST00000136824

SMART Domains

Protein: ENSMUSP00000133380
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
PDB:3DW8\|E	6	69	3e-31	PDB
Blast:WD40	15	57	3e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140047

Predicted Effect

probably benign
Transcript: ENSMUST00000148453

SMART Domains

Protein: ENSMUSP00000119183
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
PDB:3DW8\|E	14	33	9e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152104

Predicted Effect

probably null
Transcript: ENSMUST00000155672
AA Change: R11*

SMART Domains

Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: R11*

Domain	Start	End	E-Value	Type
WD40	6	45	1.19e0	SMART
WD40	56	96	1.91e1	SMART
WD40	115	153	4.11e1	SMART
WD40	180	211	2.54e2	SMART
WD40	247	284	3.82e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174090

SMART Domains

Protein: ENSMUSP00000134581
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
WD40	6	45	1.19e0	SMART
WD40	56	96	1.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172764

SMART Domains

Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
SCOP:d1k32a3	2	103	9e-8	SMART
PDB:3DW8\|E	2	127	2e-75	PDB
Blast:WD40	56	96	4e-22	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,562,499 (GRCm39)	I81F	probably damaging	Het
Acacb	C	T	5: 114,351,754 (GRCm39)	H1164Y	probably damaging	Het
Adamts5	A	T	16: 85,666,830 (GRCm39)	V554E	probably damaging	Het
Asns	G	A	6: 7,689,404 (GRCm39)	R33C	probably benign	Het
BC051076	T	G	5: 88,111,977 (GRCm39)		noncoding transcript	Het
Bcas3	C	T	11: 85,712,948 (GRCm39)		probably benign	Het
Bpifb1	A	G	2: 154,057,226 (GRCm39)	M395V	probably benign	Het
Cdcp1	C	A	9: 123,009,152 (GRCm39)	V509L	probably benign	Het
Cdhr2	A	G	13: 54,865,926 (GRCm39)	T277A	possibly damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clca4a	T	A	3: 144,672,192 (GRCm39)	E250V	probably damaging	Het
Cplx4	T	C	18: 66,100,559 (GRCm39)	D79G	probably benign	Het
Dcaf11	A	G	14: 55,802,949 (GRCm39)	D246G	probably damaging	Het
Dnah2	A	T	11: 69,420,207 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,807,330 (GRCm39)		probably benign	Het
Fam170a	T	C	18: 50,413,588 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,782,149 (GRCm39)	M423L	probably benign	Het
Gabra2	A	G	5: 71,130,836 (GRCm39)	F331L	probably damaging	Het
Galnt18	C	T	7: 111,119,321 (GRCm39)	R400Q	probably damaging	Het
H2-M11	A	T	17: 36,859,805 (GRCm39)	Q266L	probably damaging	Het
Igf2bp1	A	T	11: 95,857,499 (GRCm39)	V502D	probably damaging	Het
Ik	A	G	18: 36,881,699 (GRCm39)	N111S	probably damaging	Het
Intu	T	A	3: 40,627,027 (GRCm39)	Y269*	probably null	Het
Krt82	T	C	15: 101,450,307 (GRCm39)	Y463C	probably benign	Het
Lrig1	A	G	6: 94,588,628 (GRCm39)	M507T	probably benign	Het
Lrrc37	A	G	11: 103,504,525 (GRCm39)	V2481A	possibly damaging	Het
Mag	T	G	7: 30,598,953 (GRCm39)		probably null	Het
Map7	T	A	10: 20,121,068 (GRCm39)	Y121*	probably null	Het
Marchf6	A	G	15: 31,486,508 (GRCm39)	I349T	probably benign	Het
Mas1	A	G	17: 13,060,451 (GRCm39)	V324A	possibly damaging	Het
Nckap1l	T	C	15: 103,372,832 (GRCm39)	W259R	probably damaging	Het
Nhsl1	T	A	10: 18,373,827 (GRCm39)	Y164*	probably null	Het
Or52e5	T	A	7: 104,719,209 (GRCm39)	H178Q	probably damaging	Het
Or8b38	A	T	9: 37,973,009 (GRCm39)	Y131F	probably damaging	Het
Pcdhb2	A	G	18: 37,429,059 (GRCm39)	D344G	probably damaging	Het
Pclo	T	C	5: 14,731,824 (GRCm39)	V3442A	unknown	Het
Polr3c	C	T	3: 96,621,567 (GRCm39)		probably benign	Het
Ptgfr	T	A	3: 151,541,500 (GRCm39)	M3L	probably benign	Het
Rfx6	A	G	10: 51,601,903 (GRCm39)	S741G	probably benign	Het
Rif1	T	C	2: 51,980,273 (GRCm39)	V490A	probably damaging	Het
Samd7	T	A	3: 30,816,302 (GRCm39)	H349Q	probably damaging	Het
Sh3pxd2a	T	C	19: 47,302,482 (GRCm39)	N199S	probably damaging	Het
Spef2	T	A	15: 9,667,305 (GRCm39)	K794N	possibly damaging	Het
Spta1	C	T	1: 174,041,484 (GRCm39)	A1316V	probably damaging	Het
Vwa7	A	G	17: 35,240,575 (GRCm39)	E410G	probably benign	Het
Washc2	T	A	6: 116,215,084 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,064,711 (GRCm39)	Y581S	probably damaging	Het
Zdhhc17	T	C	10: 110,796,877 (GRCm39)	D298G	probably damaging	Het

Other mutations in Ppp2r2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ppp2r2d	APN	7	138,483,940 (GRCm39)	missense	probably benign
IGL01538:Ppp2r2d	APN	7	138,478,364 (GRCm39)	missense	probably damaging	1.00
IGL02266:Ppp2r2d	APN	7	138,470,166 (GRCm39)	missense	probably damaging	0.97
IGL02268:Ppp2r2d	APN	7	138,474,700 (GRCm39)	missense	probably null	1.00
R0482:Ppp2r2d	UTSW	7	138,472,160 (GRCm39)	missense	probably benign	0.08
R1946:Ppp2r2d	UTSW	7	138,470,196 (GRCm39)	missense	probably damaging	1.00
R4043:Ppp2r2d	UTSW	7	138,484,145 (GRCm39)	nonsense	probably null
R4326:Ppp2r2d	UTSW	7	138,470,214 (GRCm39)	missense	probably damaging	1.00
R6164:Ppp2r2d	UTSW	7	138,474,742 (GRCm39)	missense	probably damaging	0.96
R7076:Ppp2r2d	UTSW	7	138,478,326 (GRCm39)	missense	possibly damaging	0.84
R8768:Ppp2r2d	UTSW	7	138,475,897 (GRCm39)	missense	probably damaging	1.00
R9424:Ppp2r2d	UTSW	7	138,475,978 (GRCm39)	missense	possibly damaging	0.88

Posted On

2016-08-02