Mutagenetix > Incidental Mutation

Incidental Mutation 'R7076:Ppp2r2d'

549221

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

045171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138478326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 321 (M321T)

Ref Sequence

ENSEMBL: ENSMUSP00000040321 (fasta)

Gene Model

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

AlphaFold

Q925E7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041097
AA Change: M321T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: M321T

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

possibly damaging
Transcript: ENSMUST00000155672
AA Change: M156T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: M156T

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

Meta Mutation Damage Score

0.4770

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 56,324,694 (GRCm39)	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,562,769 (GRCm39)	T523A	probably damaging	Het
Arrdc3	A	T	13: 81,038,815 (GRCm39)	K259M	probably damaging	Het
Becn1	A	T	11: 101,186,150 (GRCm39)	N151K	probably benign	Het
Cars2	C	T	8: 11,579,649 (GRCm39)	E270K	probably damaging	Het
Ccp110	C	A	7: 118,331,628 (GRCm39)	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,661,786 (GRCm39)	I466T	probably benign	Het
Cd164	A	G	10: 41,399,193 (GRCm39)	E94G	probably benign	Het
Cdon	C	T	9: 35,415,446 (GRCm39)	T1228I	probably benign	Het
Cubn	C	A	2: 13,311,091 (GRCm39)	V3145L	probably benign	Het
Cubn	T	A	2: 13,311,092 (GRCm39)	K3144N	probably benign	Het
Dchs1	A	G	7: 105,411,078 (GRCm39)	V1649A	probably benign	Het
Dgka	A	T	10: 128,569,452 (GRCm39)	D153E	probably damaging	Het
Dip2b	A	G	15: 100,055,853 (GRCm39)		probably null	Het
Dnajc21	T	C	15: 10,449,717 (GRCm39)	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,433,543 (GRCm39)	I209F	probably damaging	Het
Ghdc	C	A	11: 100,660,540 (GRCm39)	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,749,005 (GRCm39)	C229R		Het
Gpm6a	C	T	8: 55,490,486 (GRCm39)	T54I	probably damaging	Het
Gpr171	G	T	3: 59,005,577 (GRCm39)	A66E	probably damaging	Het
Grm7	A	G	6: 111,335,113 (GRCm39)	D508G	probably benign	Het
Has1	G	A	17: 18,064,068 (GRCm39)	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-8	A	T	12: 114,286,402 (GRCm39)	L7Q	probably damaging	Het
Ints10	A	T	8: 69,249,403 (GRCm39)	R78*	probably null	Het
Itpr1	A	G	6: 108,365,257 (GRCm39)	I903V	probably benign	Het
Lrp1	A	G	10: 127,386,052 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,307,358 (GRCm39)	V132A	probably damaging	Het
Myh4	A	G	11: 67,143,999 (GRCm39)	E1123G	possibly damaging	Het
Neurog3	A	G	10: 61,969,359 (GRCm39)	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095 (GRCm39)		probably null	Het
Nr4a3	G	A	4: 48,055,957 (GRCm39)	V328I	probably damaging	Het
Or11g27	T	A	14: 50,771,278 (GRCm39)	Y136*	probably null	Het
Or2d36	T	C	7: 106,747,236 (GRCm39)	F238L	probably damaging	Het
Or52u1	A	T	7: 104,237,430 (GRCm39)	S140C	probably damaging	Het
Or5af2	G	A	11: 58,707,990 (GRCm39)	R52Q	probably benign	Het
Or5b124	G	T	19: 13,611,244 (GRCm39)	M256I	possibly damaging	Het
Or5p63	A	T	7: 107,811,205 (GRCm39)	V177D	probably damaging	Het
Osbpl5	A	G	7: 143,263,577 (GRCm39)	L102P	probably benign	Het
Ppl	C	T	16: 4,917,983 (GRCm39)	R503Q	probably damaging	Het
Prex1	T	C	2: 166,475,302 (GRCm39)	Y197C	probably damaging	Het
Prss32	A	G	17: 24,072,895 (GRCm39)	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,768,361 (GRCm39)	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591 (GRCm39)	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,933,819 (GRCm39)	S95P	probably damaging	Het
Srp14	T	C	2: 118,309,871 (GRCm39)	T29A	probably damaging	Het
Tet2	T	A	3: 133,172,784 (GRCm39)	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,581,836 (GRCm39)	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,117,766 (GRCm39)	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,246,599 (GRCm39)	D62G	probably benign	Het
Usp12	A	G	5: 146,674,562 (GRCm39)	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,576,601 (GRCm39)	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,020,895 (GRCm39)	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,605,201 (GRCm39)	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,594,137 (GRCm39)	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,819,751 (GRCm39)	H1104R	probably benign	Het
Znrf2	T	A	6: 54,819,680 (GRCm39)	*75K	probably null	Het
Zzef1	T	C	11: 72,790,385 (GRCm39)	V2113A	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
R8768:Ppp2r2d	UTSW	7	138,475,897 (GRCm39)	missense	probably damaging	1.00
R9424:Ppp2r2d	UTSW	7	138,475,978 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTGACTCTAGGATGGTAGTCTTCTG -3'
(R):5'- ATGAACCAGCACTTTCGGGTG -3'

Sequencing Primer
(F):5'- AGTCTTCTGATTTAGCAGGGTAAC -3'
(R):5'- TGCCGGCGTGCTAGGAC -3'

Posted On

2019-05-15