Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4687001:Ppp2r3d'

556194

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

PIT4687001 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101021579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 332 (E332G)

Ref Sequence

ENSEMBL: ENSMUSP00000069688 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066773
AA Change: E332G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: E332G

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
AA Change: E952G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: E952G

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

Coding Region Coverage

1x: 93.4%
3x: 90.8%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	T	G	3: 137,995,596 (GRCm39)	V333G	probably damaging	Het
Aggf1	A	G	13: 95,501,383 (GRCm39)	L333P	probably damaging	Het
Ankmy1	A	G	1: 92,812,803 (GRCm39)	V502A	probably benign	Het
Atm	A	G	9: 53,398,112 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,949,526 (GRCm39)	T1594A	probably damaging	Het
Cep290	T	A	10: 100,373,453 (GRCm39)	D1244E	probably benign	Het
Ctnna3	A	G	10: 64,670,385 (GRCm39)	D638G	probably damaging	Het
Ctsr	T	C	13: 61,308,346 (GRCm39)	H266R	possibly damaging	Het
D630045J12Rik	C	T	6: 38,172,036 (GRCm39)	E711K	probably benign	Het
Dnah5	T	C	15: 28,383,723 (GRCm39)	S2982P	probably damaging	Het
Dsg1a	G	T	18: 20,464,755 (GRCm39)	A417S	probably benign	Het
Gdpd1	T	C	11: 86,950,366 (GRCm39)	D69G	probably damaging	Het
Gp2	C	T	7: 119,050,801 (GRCm39)	R310H	possibly damaging	Het
Ifna2	G	A	4: 88,601,542 (GRCm39)	H159Y	possibly damaging	Het
Kptn	T	C	7: 15,859,751 (GRCm39)	V325A	probably damaging	Het
Marchf7	A	G	2: 60,062,622 (GRCm39)	E143G	probably damaging	Het
Mcm4	A	G	16: 15,454,577 (GRCm39)	L47P	probably benign	Het
Mcm8	T	C	2: 132,659,097 (GRCm39)	F27S	possibly damaging	Het
Nod2	T	A	8: 89,408,274 (GRCm39)	V967E	probably damaging	Het
Nrxn2	G	A	19: 6,531,338 (GRCm39)	R659Q	probably benign	Het
Or10al4	T	G	17: 38,037,082 (GRCm39)	C56G	probably benign	Het
Or4x12-ps1	A	G	2: 89,916,733 (GRCm39)	V24A	probably benign	Het
Parp10	C	T	15: 76,125,122 (GRCm39)	R545Q	probably benign	Het
Pramel27	C	T	4: 143,573,103 (GRCm39)		probably benign	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Qsox2	G	A	2: 26,112,300 (GRCm39)	L81F	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spata31	A	G	13: 65,069,151 (GRCm39)	D433G	probably benign	Het
Stpg2	T	C	3: 138,921,026 (GRCm39)	I77T	possibly damaging	Het
Sugp2	T	C	8: 70,710,162 (GRCm39)	S928P	probably damaging	Het
Syne1	A	G	10: 5,308,390 (GRCm39)	S722P	possibly damaging	Het
Szt2	A	T	4: 118,255,398 (GRCm39)	S229T	possibly damaging	Het
Tm9sf3	A	G	19: 41,206,630 (GRCm39)	L505P	probably damaging	Het
Ttc39d	G	A	17: 80,524,354 (GRCm39)	A338T	probably damaging	Het
Ubash3b	A	G	9: 40,934,814 (GRCm39)	F489L	probably damaging	Het
Xpo7	A	T	14: 70,904,589 (GRCm39)	Y1015N	probably benign	Het
Zbtb14	C	A	17: 69,695,302 (GRCm39)	Y333*	probably null	Het
Zp2	T	C	7: 119,741,102 (GRCm39)	T141A	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
R0243:Ppp2r3d	UTSW	9	101,089,483 (GRCm39)	missense	probably damaging	1.00
R1004:Ppp2r3d	UTSW	9	101,075,829 (GRCm39)	critical splice donor site	probably null
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'- CACCCCATGACCATGCATTCTG -3'
(R):5'- AAGGGGTTGCCCTTTCTGAAC -3'

Sequencing Primer
(F):5'- TGAGCTCCTCCAGGACAGAC -3'
(R):5'- CTAAAGAGTGTTACTTT -3'

Posted On

2019-06-07