Mutagenetix > Incidental Mutation

Incidental Mutation 'R4326:Ppp2r2d'

324363

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2d

Ensembl Gene

ENSMUSG00000041769

Gene Name

protein phosphatase 2, regulatory subunit B, delta

Synonyms

1300017E19Rik, D7Ertd753e, MDS026

MMRRC Submission

041096-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R4326 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138470214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 25 (V25D)

Gene Model

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

AlphaFold

Q925E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041097
AA Change: V59D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: V59D

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 damaging
Transcript: ENSMUST00000136824
AA Change: V54D

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

SMART Domains

Protein: ENSMUSP00000133380
Gene: ENSMUSG00000041769
AA Change: V54D

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 benign
Transcript: ENSMUST00000155672

SMART Domains

Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769

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

probably damaging
Transcript: ENSMUST00000172764
AA Change: V25D

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

SMART Domains

Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769
AA Change: V25D

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

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

Meta Mutation Damage Score

0.7831

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	G	3: 121,555,119 (GRCm39)	V616A	probably benign	Het
Abhd17a	A	G	10: 80,419,884 (GRCm39)	S241P	probably benign	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Armc3	A	G	2: 19,305,284 (GRCm39)	K681E	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atxn1	T	C	13: 46,119,443 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Capn13	C	A	17: 73,638,103 (GRCm39)	K433N	probably benign	Het
Ccdc113	G	A	8: 96,283,896 (GRCm39)	M323I	probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Dnah8	G	A	17: 30,971,066 (GRCm39)	V2707M	probably benign	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Gid4	G	A	11: 60,308,662 (GRCm39)	V61M	possibly damaging	Het
Glt28d2	G	A	3: 85,779,393 (GRCm39)	Q27*	probably null	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Isx	A	G	8: 75,600,284 (GRCm39)	I6V	probably benign	Het
Itsn1	A	G	16: 91,650,743 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Krt80	C	T	15: 101,250,189 (GRCm39)	V19M	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Lmo7	A	T	14: 102,137,510 (GRCm39)	E504D	possibly damaging	Het
Lpcat4	G	A	2: 112,076,737 (GRCm39)	E454K	probably benign	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Noxo1	G	A	17: 24,917,937 (GRCm39)	R81H	probably benign	Het
Or10ab4	T	C	7: 107,654,362 (GRCm39)	Y58H	probably damaging	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak1ip1	A	G	13: 41,158,232 (GRCm39)	D35G	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Prdm15	G	T	16: 97,607,715 (GRCm39)	N709K	probably damaging	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rrs1	G	T	1: 9,616,566 (GRCm39)	R273L	possibly damaging	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
Spen	T	G	4: 141,204,683 (GRCm39)	N1315H	unknown	Het
Ssrp1	A	G	2: 84,870,561 (GRCm39)		probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Syne2	C	A	12: 75,999,516 (GRCm39)	A2304E	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Wdr90	G	T	17: 26,072,705 (GRCm39)	R884S	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	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
IGL03263:Ppp2r2d	APN	7	138,474,651 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGCGGGTTCTACCTTAGAC -3'
(R):5'- CTCATCTACCAAGGTAGTGCTTG -3'

Sequencing Primer
(F):5'- GCGGGTTCTACCTTAGACCCATAAAG -3'
(R):5'- CTGGTTAGCAGTATGTGC -3'

Posted On

2015-06-24