Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Ppp2r2d'

42041

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

038682-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0482 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138472160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 136 (R136G)

Ref Sequence

ENSEMBL: ENSMUSP00000040321 (fasta)

Gene Model

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

AlphaFold

Q925E7

Predicted Effect

probably benign
Transcript: ENSMUST00000041097
AA Change: R136G

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: R136G

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 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

unknown
Transcript: ENSMUST00000172764
AA Change: R102G

SMART Domains

Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769
AA Change: R102G

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

0.0896

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	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
IGL03263:Ppp2r2d	APN	7	138,474,651 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ATGTGAACCTGGAGTCTCATGCTTG -3'
(R):5'- CCTCAGCACCATCTTATGACCTTGG -3'

Sequencing Primer
(F):5'- gctcttacccagtgagcc -3'
(R):5'- CCTTGGTGAGACTGAAGAATCCC -3'

Posted On

2013-05-23