Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00792:Ppp2r3d'

13698

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00792

Quality Score

Status

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101088500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 608 (K608E)

Ref Sequence

ENSEMBL: ENSMUSP00000075327 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075941
AA Change: K608E

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: K608E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,228,790 (GRCm39)	I346V	probably benign	Het
Actl7a	A	T	4: 56,743,944 (GRCm39)	Y157F	possibly damaging	Het
Adcy9	A	G	16: 4,106,403 (GRCm39)	F904L	probably damaging	Het
Ap1m1	A	G	8: 73,009,599 (GRCm39)	D369G	possibly damaging	Het
Atp23	A	T	10: 126,736,969 (GRCm39)		probably null	Het
Atp5pd	A	G	11: 115,308,675 (GRCm39)		probably null	Het
Btf3l4	G	A	4: 108,674,056 (GRCm39)	S153L	probably benign	Het
Carf	G	T	1: 60,165,168 (GRCm39)	V117L	possibly damaging	Het
Cntnap1	C	A	11: 101,069,792 (GRCm39)	N290K	probably benign	Het
Dgkb	G	A	12: 38,264,388 (GRCm39)		probably null	Het
Dmbt1	T	A	7: 130,699,337 (GRCm39)	C989S	possibly damaging	Het
Epb41l1	C	T	2: 156,366,939 (GRCm39)	R591C	probably damaging	Het
Fam219a	A	G	4: 41,521,684 (GRCm39)	V74A	probably benign	Het
Frrs1	T	A	3: 116,678,944 (GRCm39)		probably null	Het
Gm13547	A	T	2: 29,653,417 (GRCm39)	D85V	probably damaging	Het
Hipk1	G	T	3: 103,685,476 (GRCm39)	S46R	possibly damaging	Het
Ifih1	T	A	2: 62,476,214 (GRCm39)	R21W	probably damaging	Het
Ift43	A	T	12: 86,186,840 (GRCm39)	Q87L	probably null	Het
Itprid2	C	T	2: 79,487,807 (GRCm39)	A630V	probably benign	Het
Kcnn1	G	A	8: 71,307,360 (GRCm39)	L178F	probably benign	Het
Kel	G	T	6: 41,678,946 (GRCm39)	N172K	probably damaging	Het
Krtap3-2	A	T	11: 99,447,372 (GRCm39)	Y85*	probably null	Het
Lrrc49	A	G	9: 60,595,121 (GRCm39)	S8P	probably damaging	Het
Med23	T	C	10: 24,752,902 (GRCm39)	I20T	possibly damaging	Het
Pde4d	A	G	13: 110,071,929 (GRCm39)	K364E	possibly damaging	Het
Robo4	C	T	9: 37,319,507 (GRCm39)	L586F	probably damaging	Het
Rprd2	A	G	3: 95,692,416 (GRCm39)	S191P	probably benign	Het
Samhd1	A	T	2: 156,962,468 (GRCm39)	H242Q	probably damaging	Het
Slc30a9	T	A	5: 67,499,452 (GRCm39)	N283K	probably damaging	Het
Slc4a9	T	C	18: 36,672,649 (GRCm39)		probably benign	Het
Stk36	G	T	1: 74,650,276 (GRCm39)	L269F	probably benign	Het
Thop1	T	A	10: 80,914,433 (GRCm39)	L240*	probably null	Het
Tmem52b	T	A	6: 129,493,704 (GRCm39)	S106T	probably damaging	Het
Ttn	T	A	2: 76,555,970 (GRCm39)	D30345V	probably damaging	Het
Vtcn1	T	C	3: 100,795,663 (GRCm39)	V210A	probably damaging	Het
Zfp568	A	G	7: 29,714,497 (GRCm39)	R124G	probably benign	Het

Other mutations in Ppp2r3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06