Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Ppp2r2d'

664231

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r2d

Ensembl Gene

ENSMUSG00000041769

Gene Name

protein phosphatase 2, regulatory subunit B, delta

Synonyms

1300017E19Rik, D7Ertd753e, MDS026

MMRRC Submission

068623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138475897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 235 (I235N)

Ref Sequence

ENSEMBL: ENSMUSP00000040321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041097] [ENSMUST00000136824] [ENSMUST00000148453] [ENSMUST00000155672]

AlphaFold

Q925E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041097
AA Change: I235N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: I235N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WD40	27	62	1.91e1	SMART
WD40	89	129	4.77e0	SMART
WD40	171	210	1.19e0	SMART
WD40	221	261	1.91e1	SMART
WD40	280	318	4.11e1	SMART
WD40	345	376	2.54e2	SMART
WD40	412	449	3.82e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136824

SMART Domains

Protein: ENSMUSP00000133380
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
PDB:3DW8\|E	6	69	3e-31	PDB
Blast:WD40	15	57	3e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148453

SMART Domains

Protein: ENSMUSP00000119183
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
PDB:3DW8\|E	14	33	9e-7	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000155672
AA Change: I70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: I70N

Domain	Start	End	E-Value	Type
WD40	6	45	1.19e0	SMART
WD40	56	96	1.91e1	SMART
WD40	115	153	4.11e1	SMART
WD40	180	211	2.54e2	SMART
WD40	247	284	3.82e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172764

SMART Domains

Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
SCOP:d1k32a3	2	103	9e-8	SMART
PDB:3DW8\|E	2	127	2e-75	PDB
Blast:WD40	56	96	4e-22	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,740,588 (GRCm39)	C222S	probably benign	Het
Actrt3	T	G	3: 30,651,992 (GRCm39)	R367S	probably damaging	Het
Alg1	T	C	16: 5,060,416 (GRCm39)	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,593,763 (GRCm39)	E456G	probably benign	Het
Arhgef33	G	T	17: 80,681,148 (GRCm39)	A763S	possibly damaging	Het
Armc5	T	G	7: 127,841,783 (GRCm39)	V597G	probably benign	Het
Asb10	G	T	5: 24,738,690 (GRCm39)	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417 (GRCm39)	F702L	probably damaging	Het
Atf7	T	A	15: 102,449,324 (GRCm39)	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,114,250 (GRCm39)	N171D	probably benign	Het
BC049715	T	A	6: 136,816,979 (GRCm39)	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,105,312 (GRCm39)	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,938 (GRCm39)	C807W	probably damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Ccdc89	T	C	7: 90,075,793 (GRCm39)	M1T	probably null	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csmd3	T	A	15: 47,561,572 (GRCm39)	I1335F		Het
Dap3	A	G	3: 88,834,334 (GRCm39)	M294T	probably damaging	Het
Dbh	A	G	2: 27,060,328 (GRCm39)	D168G	probably benign	Het
Dchs2	C	A	3: 83,253,592 (GRCm39)	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,678,310 (GRCm39)	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,903,533 (GRCm39)	T918A	probably benign	Het
Dmgdh	C	T	13: 93,825,118 (GRCm39)	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,301,105 (GRCm39)	K2335N	possibly damaging	Het
Efna5	T	C	17: 63,188,125 (GRCm39)	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,844,944 (GRCm39)	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,313,999 (GRCm39)	A438S	probably benign	Het
Hivep3	T	C	4: 119,989,521 (GRCm39)	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,541,169 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,878,102 (GRCm39)	N875K	probably damaging	Het
Jag1	A	C	2: 136,943,521 (GRCm39)	M225R	possibly damaging	Het
Jag1	T	C	2: 136,932,708 (GRCm39)		probably benign	Het
Kcnn2	C	T	18: 45,692,502 (GRCm39)	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,311,279 (GRCm39)	S96P	probably damaging	Het
Klhl25	A	G	7: 75,516,359 (GRCm39)	N422D	probably damaging	Het
Lhx8	A	T	3: 154,027,886 (GRCm39)	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,631,840 (GRCm39)	V120D	possibly damaging	Het
Manba	T	A	3: 135,256,995 (GRCm39)	S553T	probably damaging	Het
Mllt10	T	A	2: 18,167,583 (GRCm39)	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or1l4b	C	T	2: 37,037,016 (GRCm39)	S264L	probably benign	Het
Or8b50	A	C	9: 38,518,441 (GRCm39)	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,252 (GRCm39)	E450K	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Plch2	C	A	4: 155,083,324 (GRCm39)	G538V	probably damaging	Het
Prdm15	A	T	16: 97,638,888 (GRCm39)	D57E	probably benign	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptger4	T	A	15: 5,272,138 (GRCm39)	R185S	probably benign	Het
Ptp4a2	T	A	4: 129,740,299 (GRCm39)	M121K	probably damaging	Het
Ptpre	T	G	7: 135,283,306 (GRCm39)	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,596,809 (GRCm39)	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,647,521 (GRCm39)	M556V	probably benign	Het
Scaf8	T	C	17: 3,243,349 (GRCm39)	V711A	probably benign	Het
Sesn3	G	A	9: 14,225,964 (GRCm39)	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,714,206 (GRCm39)	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,078,897 (GRCm39)	V133M	probably benign	Het
Syt6	T	C	3: 103,492,850 (GRCm39)	L119P	probably benign	Het
Szt2	A	C	4: 118,226,613 (GRCm39)	S2974R	unknown	Het
Taok1	A	T	11: 77,444,712 (GRCm39)	H454Q	probably damaging	Het
Tbx10	G	A	19: 4,047,303 (GRCm39)	V136M	probably damaging	Het
Tespa1	A	G	10: 130,198,027 (GRCm39)	T350A	probably benign	Het
Tnks1bp1	T	A	2: 84,900,980 (GRCm39)	Y1562*	probably null	Het
Trank1	T	A	9: 111,218,344 (GRCm39)	F1908Y	probably benign	Het
Trav6d-4	A	T	14: 52,991,243 (GRCm39)	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,669,197 (GRCm39)	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,770,286 (GRCm39)	F119S	probably damaging	Het
Ttll3	T	G	6: 113,385,949 (GRCm39)	M594R	probably damaging	Het
Ttn	T	A	2: 76,798,790 (GRCm39)	R495*	probably null	Het
Twf1	A	C	15: 94,479,110 (GRCm39)	L250V	probably damaging	Het
Ubr4	A	T	4: 139,149,076 (GRCm39)	E458D		Het
Unc50	T	C	1: 37,476,244 (GRCm39)	F135L	probably benign	Het
Vwa3a	T	A	7: 120,375,299 (GRCm39)	I371N	probably damaging	Het
Zfp180	T	C	7: 23,805,161 (GRCm39)	S527P	probably damaging	Het
Zfp512	T	A	5: 31,630,882 (GRCm39)	I408N	probably damaging	Het
Zfp57	A	G	17: 37,317,077 (GRCm39)	T52A	probably benign	Het
Zranb2	A	G	3: 157,247,327 (GRCm39)		probably benign	Het

Other mutations in Ppp2r2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ppp2r2d	APN	7	138,483,940 (GRCm39)	missense	probably benign
IGL01538:Ppp2r2d	APN	7	138,478,364 (GRCm39)	missense	probably damaging	1.00
IGL02266:Ppp2r2d	APN	7	138,470,166 (GRCm39)	missense	probably damaging	0.97
IGL02268:Ppp2r2d	APN	7	138,474,700 (GRCm39)	missense	probably null	1.00
IGL03263:Ppp2r2d	APN	7	138,474,651 (GRCm39)	nonsense	probably null
R0482:Ppp2r2d	UTSW	7	138,472,160 (GRCm39)	missense	probably benign	0.08
R1946:Ppp2r2d	UTSW	7	138,470,196 (GRCm39)	missense	probably damaging	1.00
R4043:Ppp2r2d	UTSW	7	138,484,145 (GRCm39)	nonsense	probably null
R4326:Ppp2r2d	UTSW	7	138,470,214 (GRCm39)	missense	probably damaging	1.00
R6164:Ppp2r2d	UTSW	7	138,474,742 (GRCm39)	missense	probably damaging	0.96
R7076:Ppp2r2d	UTSW	7	138,478,326 (GRCm39)	missense	possibly damaging	0.84
R9424:Ppp2r2d	UTSW	7	138,475,978 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TATGGGCTCCTCTGTGACAG -3'
(R):5'- GGAGTACTCCTTTATTAGCATAGCCC -3'

Sequencing Primer
(F):5'- GACAGTTTATATGGTCAGTCTCCTGC -3'
(R):5'- CCTTTATTAGCATAGCCCATGGG -3'

Posted On

2021-03-08