Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Ppp2r3d'

372682

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

042445-MU

Accession Numbers

Essential gene?

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

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124195827-124204759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101089709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 205 (S205T)

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: S205T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: S205T

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

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,573,646 (GRCm39)		probably benign	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Ddr1	A	T	17: 35,996,005 (GRCm39)	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mdga1	A	G	17: 30,065,343 (GRCm39)	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
P3h3	G	A	6: 124,818,601 (GRCm39)		probably benign	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Stk4	T	C	2: 163,941,747 (GRCm39)		probably null	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	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
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
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'- TTAGAAATCACCTCATTGCCACTTC -3'
(R):5'- ACCATGCAGCTTACAGAAAAGG -3'

Sequencing Primer
(F):5'- ATTGCCACTTCCCTCACTGATACTAC -3'
(R):5'- TGCAGCTTACAGAAAAGGAAGAAAAG -3'

Posted On

2016-03-01