Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Ppp2r3d'

97974

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r3d

Ensembl Gene

ENSMUSG00000093803

Gene Name

protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta

Synonyms

Ppp2r3, PR59, Ppp2r3a

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R1004 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 101075829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066773] [ENSMUST00000075941]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000066773

SMART Domains

Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154

Domain	Start	End	E-Value	Type
Blast:EFh	140	169	1e-9	BLAST
Pfam:EF-hand_7	282	380	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075941

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154

Domain	Start	End	E-Value	Type
low complexity region	248	266	N/A	INTRINSIC
Blast:EFh	760	789	1e-9	BLAST
Pfam:EF-hand_7	902	1000	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188612

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,042,780 (GRCm39)	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,780,386 (GRCm39)	E453V	probably damaging	Het
Agxt	A	G	1: 93,063,421 (GRCm39)	M108V	possibly damaging	Het
Akap13	T	C	7: 75,337,034 (GRCm39)	I831T	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arid1a	A	G	4: 133,414,586 (GRCm39)	M1215T	unknown	Het
Cd163	G	T	6: 124,302,306 (GRCm39)	D957Y	probably damaging	Het
Ces2e	A	G	8: 105,656,370 (GRCm39)	D200G	probably damaging	Het
Cfap54	T	C	10: 92,902,558 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 113,888,671 (GRCm39)		probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dpp4	T	A	2: 62,162,984 (GRCm39)	Q754L	probably benign	Het
Ece1	A	G	4: 137,653,550 (GRCm39)	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544 (GRCm39)	V779M	possibly damaging	Het
Gatm	C	T	2: 122,440,141 (GRCm39)		probably benign	Het
Gpc2	A	G	5: 138,276,487 (GRCm39)	L213P	probably damaging	Het
Hook1	A	C	4: 95,910,524 (GRCm39)	N713H	probably benign	Het
Kdm5b	T	A	1: 134,516,642 (GRCm39)	I178K	possibly damaging	Het
Mettl9	G	A	7: 120,675,460 (GRCm39)	V287I	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,378,353 (GRCm39)	T3774I	probably benign	Het
Nup58	C	A	14: 60,484,930 (GRCm39)		probably benign	Het
Nxf1	A	T	19: 8,741,681 (GRCm39)	T119S	probably benign	Het
Oaz3	T	A	3: 94,342,350 (GRCm39)	H102L	probably damaging	Het
Or8g2b	T	C	9: 39,751,276 (GRCm39)	F182S	probably benign	Het
Pfpl	A	T	19: 12,407,789 (GRCm39)	Q680L	probably benign	Het
Poli	T	A	18: 70,658,509 (GRCm39)	Q75L	probably benign	Het
Prr30	A	G	14: 101,436,529 (GRCm39)	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,688,493 (GRCm39)	Y345F	probably benign	Het
Ric1	A	G	19: 29,579,757 (GRCm39)	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,518,225 (GRCm39)		probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Skp1	G	C	11: 52,128,207 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,320,786 (GRCm39)	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,595,763 (GRCm39)	N35S	probably damaging	Het
Tcstv2c	T	A	13: 120,616,558 (GRCm39)	D132E	probably benign	Het
Xrcc5	A	G	1: 72,422,937 (GRCm39)		probably benign	Het
Zfp235	T	A	7: 23,840,169 (GRCm39)	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,133,103 (GRCm39)		probably benign	Het

Other mutations in Ppp2r3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Ppp2r3d	APN	9	101,088,500 (GRCm39)	missense	possibly damaging	0.50
IGL01122:Ppp2r3d	APN	9	101,088,844 (GRCm39)	missense	probably benign	0.30
IGL02332:Ppp2r3d	APN	9	101,057,602 (GRCm39)	missense	possibly damaging	0.78
IGL02653:Ppp2r3d	APN	9	101,088,892 (GRCm39)	missense	probably benign	0.13
IGL03329:Ppp2r3d	APN	9	101,003,630 (GRCm39)	splice site	probably benign
IGL03351:Ppp2r3d	APN	9	101,088,391 (GRCm39)	missense	probably benign	0.00
lank	UTSW	9	101,075,829 (GRCm39)	critical splice donor site	probably null
PIT4480001:Ppp2r3d	UTSW	9	101,003,576 (GRCm39)	missense	possibly damaging	0.95
PIT4687001:Ppp2r3d	UTSW	9	101,021,579 (GRCm39)	missense	probably benign	0.00
R0243:Ppp2r3d	UTSW	9	101,089,483 (GRCm39)	missense	probably damaging	1.00
R1086:Ppp2r3d	UTSW	9	101,031,021 (GRCm39)	missense	possibly damaging	0.67
R1215:Ppp2r3d	UTSW	9	101,089,883 (GRCm39)	missense	probably benign	0.02
R1245:Ppp2r3d	UTSW	9	101,071,593 (GRCm39)	missense	probably damaging	0.99
R1458:Ppp2r3d	UTSW	9	101,088,511 (GRCm39)	missense	probably damaging	1.00
R1682:Ppp2r3d	UTSW	9	101,089,505 (GRCm39)	missense	probably benign	0.00
R1857:Ppp2r3d	UTSW	9	101,090,092 (GRCm39)	missense	probably damaging	0.96
R1972:Ppp2r3d	UTSW	9	101,088,976 (GRCm39)	missense	probably benign	0.00
R2029:Ppp2r3d	UTSW	9	101,022,680 (GRCm39)	missense	probably damaging	1.00
R2076:Ppp2r3d	UTSW	9	101,021,570 (GRCm39)	missense	possibly damaging	0.83
R2135:Ppp2r3d	UTSW	9	101,088,757 (GRCm39)	missense	probably damaging	0.99
R2180:Ppp2r3d	UTSW	9	101,004,214 (GRCm39)	nonsense	probably null
R3155:Ppp2r3d	UTSW	9	101,089,559 (GRCm39)	missense	possibly damaging	0.56
R4190:Ppp2r3d	UTSW	9	124,424,123 (GRCm38)	unclassified	probably benign
R4657:Ppp2r3d	UTSW	9	124,476,821 (GRCm38)	missense	unknown
R4797:Ppp2r3d	UTSW	9	101,089,179 (GRCm39)	missense	probably benign	0.01
R4829:Ppp2r3d	UTSW	9	101,089,709 (GRCm39)	missense	possibly damaging	0.67
R5269:Ppp2r3d	UTSW	9	101,031,064 (GRCm39)	missense	probably damaging	0.98
R5498:Ppp2r3d	UTSW	9	124,439,123 (GRCm38)	unclassified	probably benign
R5820:Ppp2r3d	UTSW	9	124,422,765 (GRCm38)	missense	possibly damaging	0.90
R5917:Ppp2r3d	UTSW	9	101,089,183 (GRCm39)	missense	probably benign	0.10
R5939:Ppp2r3d	UTSW	9	101,089,824 (GRCm39)	missense	probably benign	0.37
R6089:Ppp2r3d	UTSW	9	101,088,835 (GRCm39)	missense	probably benign	0.00
R6254:Ppp2r3d	UTSW	9	101,025,786 (GRCm39)	missense	possibly damaging	0.75
R6574:Ppp2r3d	UTSW	9	101,071,584 (GRCm39)	missense	probably benign	0.03
R6776:Ppp2r3d	UTSW	9	101,090,061 (GRCm39)	missense	probably benign	0.00
R6823:Ppp2r3d	UTSW	9	124,439,078 (GRCm38)	unclassified	probably benign
R6927:Ppp2r3d	UTSW	9	101,052,547 (GRCm39)	missense	probably damaging	1.00
R6986:Ppp2r3d	UTSW	9	124,439,080 (GRCm38)	nonsense	probably null
R7162:Ppp2r3d	UTSW	9	124,439,673 (GRCm38)	missense
R7189:Ppp2r3d	UTSW	9	101,003,621 (GRCm39)	missense	possibly damaging	0.59
R7190:Ppp2r3d	UTSW	9	101,089,726 (GRCm39)	missense	probably benign	0.11
R7288:Ppp2r3d	UTSW	9	101,004,203 (GRCm39)	missense	probably damaging	0.98
R7292:Ppp2r3d	UTSW	9	101,089,871 (GRCm39)	missense	probably damaging	0.96
R7512:Ppp2r3d	UTSW	9	101,052,532 (GRCm39)	missense	possibly damaging	0.69
R7655:Ppp2r3d	UTSW	9	101,088,911 (GRCm39)	missense	probably benign	0.30
R7656:Ppp2r3d	UTSW	9	101,088,911 (GRCm39)	missense	probably benign	0.30
R7661:Ppp2r3d	UTSW	9	124,442,696 (GRCm38)	missense
R7666:Ppp2r3d	UTSW	9	124,440,873 (GRCm38)	missense	probably damaging	1.00
R7769:Ppp2r3d	UTSW	9	124,439,087 (GRCm38)	missense
R8174:Ppp2r3d	UTSW	9	101,090,501 (GRCm39)	start gained	probably benign
R8195:Ppp2r3d	UTSW	9	101,090,231 (GRCm39)	missense	probably damaging	1.00
R8236:Ppp2r3d	UTSW	9	124,440,067 (GRCm38)	missense
R8344:Ppp2r3d	UTSW	9	101,088,985 (GRCm39)	missense	probably benign	0.03
R8505:Ppp2r3d	UTSW	9	124,439,084 (GRCm38)	missense
R8720:Ppp2r3d	UTSW	9	101,089,084 (GRCm39)	missense	probably damaging	1.00
R8765:Ppp2r3d	UTSW	9	124,439,649 (GRCm38)	missense
R8775:Ppp2r3d	UTSW	9	101,004,204 (GRCm39)	missense	probably benign	0.00
R8775-TAIL:Ppp2r3d	UTSW	9	101,004,204 (GRCm39)	missense	probably benign	0.00
R8853:Ppp2r3d	UTSW	9	101,090,110 (GRCm39)	missense	probably benign	0.05
R8958:Ppp2r3d	UTSW	9	101,088,634 (GRCm39)	missense	probably benign
R9069:Ppp2r3d	UTSW	9	101,090,006 (GRCm39)	missense	probably benign	0.02
R9210:Ppp2r3d	UTSW	9	101,063,175 (GRCm39)	missense	probably benign	0.09
R9212:Ppp2r3d	UTSW	9	101,063,175 (GRCm39)	missense	probably benign	0.09
R9300:Ppp2r3d	UTSW	9	124,423,977 (GRCm38)	missense	unknown
R9404:Ppp2r3d	UTSW	9	101,025,840 (GRCm39)	missense	probably damaging	1.00
R9465:Ppp2r3d	UTSW	9	124,442,222 (GRCm38)	missense
R9477:Ppp2r3d	UTSW	9	124,476,857 (GRCm38)	missense
R9538:Ppp2r3d	UTSW	9	124,424,007 (GRCm38)	missense	unknown
R9545:Ppp2r3d	UTSW	9	101,089,214 (GRCm39)	missense	probably benign
R9639:Ppp2r3d	UTSW	9	101,022,713 (GRCm39)	missense	probably benign
R9649:Ppp2r3d	UTSW	9	124,440,831 (GRCm38)	missense
X0020:Ppp2r3d	UTSW	9	101,089,238 (GRCm39)	missense	probably benign	0.19
Z1176:Ppp2r3d	UTSW	9	101,003,588 (GRCm39)	missense	possibly damaging	0.67
Z1177:Ppp2r3d	UTSW	9	124,476,815 (GRCm38)	missense	unknown
Z1177:Ppp2r3d	UTSW	9	124,422,692 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTCTGCAAAACAGGATTCCTCCC -3'
(R):5'- GCCCGCTTGGAAAGTAAACATTCAC -3'

Sequencing Primer
(F):5'- TACTGTACTCCGGGTCCAGAAG -3'
(R):5'- CACTTTCCAAAGATGATGATCAAGG -3'

Posted On

2014-01-05