Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01122:Ppp2r3d'

51961

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 #

IGL01122

Quality Score

Status

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101088844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 493 (L493P)

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: L493P

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: L493P

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap6	A	T	X: 168,029,666 (GRCm39)	K142N	possibly damaging	Het
Atp13a1	T	A	8: 70,251,555 (GRCm39)	L540Q	probably damaging	Het
Cacna1a	T	C	8: 85,341,422 (GRCm39)		probably null	Het
Cops6	A	G	5: 138,160,635 (GRCm39)	K129E	probably benign	Het
Cracd	T	C	5: 77,018,522 (GRCm39)	*1289Q	probably null	Het
Cyp11a1	T	C	9: 57,923,589 (GRCm39)	I98T	probably damaging	Het
Cyp2c65	A	G	19: 39,060,621 (GRCm39)		probably null	Het
Dapl1	A	T	2: 59,324,839 (GRCm39)	K30I	probably damaging	Het
Dlg2	A	G	7: 92,091,816 (GRCm39)	M894V	possibly damaging	Het
Eme2	C	T	17: 25,112,320 (GRCm39)	A202T	possibly damaging	Het
Fbxw22	A	T	9: 109,215,739 (GRCm39)	S170T	probably damaging	Het
Havcr2	A	G	11: 46,347,254 (GRCm39)	Y77C	probably damaging	Het
Ivd	T	A	2: 118,707,361 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,778,900 (GRCm39)	D471G	possibly damaging	Het
Med12	T	C	X: 100,325,149 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,338,264 (GRCm39)	R445W	probably damaging	Het
Mptx1	A	G	1: 174,159,964 (GRCm39)	Y90C	probably damaging	Het
Nek1	G	A	8: 61,574,000 (GRCm39)	V1083I	possibly damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Or4a72	A	G	2: 89,405,767 (GRCm39)	I101T	possibly damaging	Het
Pbdc1	T	C	X: 104,126,297 (GRCm39)		probably benign	Het
Phlpp1	G	T	1: 106,101,166 (GRCm39)	R478L	possibly damaging	Het
Ppp2r3c	C	T	12: 55,344,587 (GRCm39)	G127D	probably benign	Het
Pramel24	A	G	4: 143,454,971 (GRCm39)	D423G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Rdh13	T	C	7: 4,445,694 (GRCm39)	K60R	probably benign	Het
Scaf4	A	G	16: 90,045,518 (GRCm39)	S528P	unknown	Het
Sfmbt1	A	G	14: 30,532,268 (GRCm39)	I543V	probably damaging	Het
Speg	T	C	1: 75,386,679 (GRCm39)	L1271P	probably damaging	Het
Stard9	C	A	2: 120,528,960 (GRCm39)	T1739K	possibly damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Tmprss11b	G	T	5: 86,811,376 (GRCm39)	T186K	probably benign	Het
U2surp	G	T	9: 95,372,287 (GRCm39)	Q291K	probably benign	Het
Ulk4	A	G	9: 120,997,358 (GRCm39)	I738T	possibly damaging	Het
Urb1	A	T	16: 90,601,346 (GRCm39)	S142T	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,988 (GRCm39)	I222N	probably benign	Het
Zmym4	T	C	4: 126,758,045 (GRCm39)	N1503S	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
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

2013-06-21