Mutagenetix > Incidental Mutation

Incidental Mutation 'R1215:Ppp2r3d'

99584

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

039284-MU

Accession Numbers

Essential gene?

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

Stock #

R1215 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101089883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

Ref Sequence

ENSEMBL: ENSMUSP00000075327 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075941
AA Change: S147P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: S147P

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: ENSMUST00000191226

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Art5	C	T	7: 101,747,116 (GRCm39)	R123H	probably damaging	Het
Azin2	A	G	4: 128,843,489 (GRCm39)	S66P	probably damaging	Het
Cep295	T	C	9: 15,239,178 (GRCm39)	E1865G	probably benign	Het
Ces1a	A	G	8: 93,759,318 (GRCm39)	C273R	probably damaging	Het
Cfap44	A	G	16: 44,239,666 (GRCm39)	Y571C	probably damaging	Het
Cntfr	C	A	4: 41,662,064 (GRCm39)	W226L	probably damaging	Het
Csmd3	A	T	15: 47,868,227 (GRCm39)		probably null	Het
Cyp2a4	C	T	7: 26,014,226 (GRCm39)	P468S	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E130308A19Rik	T	A	4: 59,690,743 (GRCm39)	D192E	probably benign	Het
Fam184b	C	T	5: 45,741,520 (GRCm39)	R237H	probably damaging	Het
Fmn1	T	A	2: 113,523,375 (GRCm39)	Y1247*	probably null	Het
Grb14	T	C	2: 64,747,608 (GRCm39)	S18G	probably benign	Het
Hs2st1	G	A	3: 144,170,902 (GRCm39)	T90I	possibly damaging	Het
Mcc	A	T	18: 44,601,561 (GRCm39)	N589K	possibly damaging	Het
Mff	T	A	1: 82,719,609 (GRCm39)	S196T	probably benign	Het
Nyap1	C	T	5: 137,733,395 (GRCm39)	W546*	probably null	Het
Or13p10	A	T	4: 118,523,496 (GRCm39)	M261L	possibly damaging	Het
Rsph14	T	C	10: 74,860,898 (GRCm39)	H134R	probably benign	Het
Slc25a3	G	A	10: 90,953,170 (GRCm39)	A274V	possibly damaging	Het
Slc43a2	T	A	11: 75,453,688 (GRCm39)	W229R	probably damaging	Het
Slco4c1	C	A	1: 96,756,596 (GRCm39)	L575F	probably damaging	Het
Smyd4	T	A	11: 75,281,121 (GRCm39)	I198N	possibly damaging	Het
Trpm6	A	G	19: 18,773,862 (GRCm39)	D413G	probably damaging	Het
Ush2a	A	G	1: 188,689,479 (GRCm39)	T33A	possibly damaging	Het
Zfp871	A	T	17: 32,994,946 (GRCm39)	D57E	possibly damaging	Het
Zfyve9	T	C	4: 108,507,426 (GRCm39)	Q1176R	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
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
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'- ACGGTCTCGTTATTCCCAGACTGC -3'
(R):5'- GCTGAAGATTATCCCCATCAAGCCC -3'

Sequencing Primer
(F):5'- CTCAGGTAGTAAGCTAACCTGGTC -3'
(R):5'- CCATCAAGCCCTCACAGG -3'

Posted On

2014-01-15