Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Ppp2r2d'

286999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r2d

Ensembl Gene

ENSMUSG00000041769

Gene Name

protein phosphatase 2, regulatory subunit B, delta

Synonyms

1300017E19Rik, D7Ertd753e, MDS026

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

138448073-138484786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138474700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 27 (N27S)

Ref Sequence

ENSEMBL: ENSMUSP00000119004 (fasta)

Gene Model

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

AlphaFold

Q925E7

Predicted Effect

probably null
Transcript: ENSMUST00000041097
AA Change: N192S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: N192S

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

noncoding transcript
Transcript: ENSMUST00000128157

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

noncoding transcript
Transcript: ENSMUST00000140047

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

noncoding transcript
Transcript: ENSMUST00000152104

Predicted Effect

probably null
Transcript: ENSMUST00000155672
AA Change: N27S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: N27S

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

noncoding transcript
Transcript: ENSMUST00000174090

SMART Domains

Protein: ENSMUSP00000134581
Gene: ENSMUSG00000041769

Domain	Start	End	E-Value	Type
WD40	6	45	1.19e0	SMART
WD40	56	96	1.91e1	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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	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
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
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

Posted On

2015-04-16