Mutagenetix > Incidental Mutation

Incidental Mutation 'R6574:Ppp2r3d'

523357

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

044698-MU

Accession Numbers

Essential gene?

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

Stock #

R6574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101071584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 678 (P678L)

Ref Sequence

ENSEMBL: ENSMUSP00000075327 (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: P58L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: P58L

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: P678L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: P678L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193545

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	C	3: 146,356,613 (GRCm39)	D98E	probably benign	Het
Ackr3	T	C	1: 90,141,790 (GRCm39)	I83T	probably damaging	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ano1	A	C	7: 144,161,653 (GRCm39)		probably null	Het
Arap1	T	A	7: 101,053,208 (GRCm39)	I532N	probably damaging	Het
Bsn	A	G	9: 107,991,153 (GRCm39)	V1533A	possibly damaging	Het
Ccdc83	T	C	7: 89,875,885 (GRCm39)	S329G	possibly damaging	Het
Ccno	T	A	13: 113,124,719 (GRCm39)	D96E	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Degs1	T	C	1: 182,106,638 (GRCm39)	Y207C	probably damaging	Het
Dnah7a	A	T	1: 53,495,693 (GRCm39)		probably null	Het
Dnah9	C	T	11: 66,059,107 (GRCm39)	A63T	probably benign	Het
Eif4e1b	T	C	13: 54,932,711 (GRCm39)	F100S	probably damaging	Het
Eps8	A	T	6: 137,460,596 (GRCm39)	Y722*	probably null	Het
Etfa	A	T	9: 55,402,910 (GRCm39)	I96N	probably damaging	Het
Flt4	A	G	11: 49,516,199 (GRCm39)	T101A	probably benign	Het
Gabra4	A	G	5: 71,781,268 (GRCm39)	I381T	probably benign	Het
Gria2	A	G	3: 80,596,603 (GRCm39)	V821A	probably damaging	Het
Gss	G	T	2: 155,423,931 (GRCm39)	T51K	probably damaging	Het
Igkv13-84	C	A	6: 68,916,977 (GRCm39)	Y91*	probably null	Het
Iqcb1	A	T	16: 36,691,863 (GRCm39)	Q487H	probably damaging	Het
Itga8	G	A	2: 12,234,972 (GRCm39)	H429Y	probably benign	Het
Myo1c	T	G	11: 75,547,124 (GRCm39)		probably benign	Het
Odad2	C	A	18: 7,129,394 (GRCm39)		probably null	Het
Pcdhga5	T	C	18: 37,828,434 (GRCm39)	L294P	probably damaging	Het
Pkd2l2	T	C	18: 34,558,134 (GRCm39)	L271P	probably damaging	Het
Plcb2	T	C	2: 118,549,654 (GRCm39)	D290G	probably damaging	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Ppp1r15a	T	C	7: 45,173,533 (GRCm39)	D425G	probably benign	Het
Ptbp2	T	G	3: 119,541,596 (GRCm39)	Q147P	probably damaging	Het
Sez6l	A	G	5: 112,724,692 (GRCm39)	S15P	possibly damaging	Het
Slc25a10	T	C	11: 120,387,903 (GRCm39)	F199L	probably benign	Het
Slc4a8	A	G	15: 100,705,197 (GRCm39)	N801S	probably damaging	Het
Sucnr1	T	C	3: 59,994,020 (GRCm39)	Y183H	probably damaging	Het
Tmem67	T	C	4: 12,063,086 (GRCm39)	D520G	possibly damaging	Het
Trgc3	G	T	13: 19,445,293 (GRCm39)	R80S	probably benign	Het
Trrap	G	T	5: 144,752,360 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,473,331 (GRCm39)	P803L	probably benign	Het
Ubash3a	A	T	17: 31,451,370 (GRCm39)	Q423L	probably damaging	Het
Ucp1	G	A	8: 84,020,718 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,476,421 (GRCm39)	N425K	probably damaging	Het
Vps52	A	G	17: 34,181,452 (GRCm39)	M418V	probably null	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
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
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'- AACCTGTGCTTAACGCCAGAG -3'
(R):5'- TTTAAAGTGAACCCTTGATCGC -3'

Sequencing Primer
(F):5'- CTGTGCTTAACGCCAGAGCAAAG -3'
(R):5'- AAGTGAACCCTTGATCGCTACTG -3'

Posted On

2018-06-22