Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02653:Ppp2r3d'

302243

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: 0.305) question?

Stock #

IGL02653

Quality Score

Status

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101088892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 477 (V477A)

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: V477A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: V477A

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
Abcc8	T	C	7: 45,765,191 (GRCm39)		probably benign	Het
Alox5	T	A	6: 116,392,438 (GRCm39)	H361L	probably benign	Het
Arid2	A	G	15: 96,185,583 (GRCm39)	N3S	probably damaging	Het
Atp1a4	T	A	1: 172,078,973 (GRCm39)	I182F	possibly damaging	Het
Cby2	T	C	14: 75,820,597 (GRCm39)	D385G	probably damaging	Het
Ctnna2	A	T	6: 76,957,760 (GRCm39)	D496E	probably benign	Het
Cyp3a25	G	T	5: 145,939,920 (GRCm39)	S29Y	possibly damaging	Het
Dglucy	G	A	12: 100,837,690 (GRCm39)	G611D	probably benign	Het
Efcab5	T	C	11: 77,022,848 (GRCm39)	K622E	probably damaging	Het
Esyt1	T	A	10: 128,346,877 (GRCm39)	I1071L	probably benign	Het
Fbn2	T	C	18: 58,209,777 (GRCm39)	K1035E	probably benign	Het
Frem1	T	G	4: 82,877,571 (GRCm39)	E1335D	probably benign	Het
Gm5900	A	G	7: 104,599,340 (GRCm39)		noncoding transcript	Het
Ikbke	T	A	1: 131,199,572 (GRCm39)	Q283L	possibly damaging	Het
Lepr	A	T	4: 101,622,141 (GRCm39)	I358F	probably benign	Het
Lnpk	A	G	2: 74,378,392 (GRCm39)	V123A	probably damaging	Het
Mis12	A	G	11: 70,916,357 (GRCm39)	K130R	probably damaging	Het
Ncapg2	T	A	12: 116,389,526 (GRCm39)		probably null	Het
Npy6r	T	C	18: 44,409,694 (GRCm39)	*372Q	probably null	Het
Polr3d	T	C	14: 70,677,557 (GRCm39)	D273G	probably damaging	Het
Prpf19	T	A	19: 10,880,328 (GRCm39)		probably benign	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Pwwp2a	A	G	11: 43,596,862 (GRCm39)	T676A	possibly damaging	Het
Ralgapb	T	A	2: 158,285,229 (GRCm39)	I242N	probably damaging	Het
Scn3a	A	T	2: 65,291,531 (GRCm39)	S1738R	probably damaging	Het
Snapc1	C	A	12: 74,029,261 (GRCm39)	P348Q	probably benign	Het
Tbc1d7	T	C	13: 43,318,874 (GRCm39)	I88V	probably benign	Het
Tnks2	T	C	19: 36,849,851 (GRCm39)	S220P	probably damaging	Het
Trim56	A	T	5: 137,141,760 (GRCm39)	S585R	probably damaging	Het
Trpm2	T	G	10: 77,748,503 (GRCm39)	E1389A	probably benign	Het
Tspear	T	A	10: 77,542,799 (GRCm39)		probably benign	Het
Vmn1r180	T	C	7: 23,652,500 (GRCm39)	I221T	probably damaging	Het
Vmn1r204	A	C	13: 22,740,800 (GRCm39)	I144L	probably benign	Het
Vmn2r20	A	T	6: 123,362,324 (GRCm39)	I820N	probably damaging	Het
Vwa3b	T	A	1: 37,214,646 (GRCm39)		probably benign	Het
Wnt1	G	A	15: 98,690,336 (GRCm39)	G222R	probably damaging	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
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

2015-04-16