Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01503:Pde2a'

88966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.794) question?

Stock #

IGL01503

Quality Score

Status

Chromosome

Chromosomal Location

101421691-101512827 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101501936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210364] [ENSMUST00000211368]

AlphaFold

Q922S4

Predicted Effect

probably benign
Transcript: ENSMUST00000084894

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	382	2.2e-21	SMART
GAF	404	553	6.11e-38	SMART
HDc	648	817	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163751

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	386	2.22e-17	SMART
GAF	408	557	6.11e-38	SMART
HDc	652	821	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166652

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	382	2.2e-21	SMART
GAF	404	553	6.11e-38	SMART
HDc	648	817	9.04e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209315

Predicted Effect

probably benign
Transcript: ENSMUST00000209537

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211051

Predicted Effect

probably benign
Transcript: ENSMUST00000211368

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	A	16: 89,174,869	Y26*	probably null	Het
Arpc1a	T	C	5: 145,096,154	V91A	probably damaging	Het
Atp2a1	T	A	7: 126,448,578	I687F	probably damaging	Het
B3gnt5	A	C	16: 19,769,781	Y250S	probably damaging	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
C1s2	T	C	6: 124,625,653	D527G	probably damaging	Het
Chrna5	T	A	9: 54,998,171		probably benign	Het
Cltc	C	A	11: 86,695,700		probably benign	Het
Dgkh	T	G	14: 78,616,270	I439L	possibly damaging	Het
Dnajc16	G	A	4: 141,763,697	T714I	possibly damaging	Het
Fam13a	A	T	6: 58,956,080	I349N	probably damaging	Het
Fig4	C	T	10: 41,256,518	D431N	probably benign	Het
Gabra4	A	T	5: 71,641,086	N183K	possibly damaging	Het
Ggt5	C	T	10: 75,610,110		probably benign	Het
Gm436	T	A	4: 144,674,567	I116F	probably damaging	Het
Hdac6	A	G	X: 7,932,179	L798P	probably damaging	Het
Hectd4	T	C	5: 121,318,651	V2030A	probably benign	Het
Hecw2	A	G	1: 53,826,961	Y1514H	probably damaging	Het
Hmcn1	T	C	1: 150,605,072	D4451G	probably benign	Het
Krtcap3	T	C	5: 31,251,823		probably benign	Het
Ltn1	A	T	16: 87,420,807		probably benign	Het
Mapkapk2	T	C	1: 131,058,762	M1V	probably null	Het
Mical3	A	T	6: 120,958,576	I1663N	probably benign	Het
Mvp	G	T	7: 127,001,961		probably benign	Het
Myo5c	A	G	9: 75,263,042	I485V	probably damaging	Het
N4bp2	T	A	5: 65,803,547	C520*	probably null	Het
Nos2	A	G	11: 78,945,863		probably benign	Het
Ogdh	G	A	11: 6,355,069	V925M	probably damaging	Het
Plpp6	A	G	19: 28,964,879	*293W	probably null	Het
Pole	T	A	5: 110,303,884	I864K	probably damaging	Het
Rexo4	A	T	2: 26,960,633	I239N	probably benign	Het
Scn1a	T	A	2: 66,322,343	I748F	probably damaging	Het
Sfmbt2	A	T	2: 10,579,354	R841*	probably null	Het
Sh3bp5l	A	G	11: 58,338,001	N100S	probably damaging	Het
Spic	T	A	10: 88,675,761	D211V	probably damaging	Het
Stab2	A	G	10: 86,940,613		probably benign	Het
Tshr	A	G	12: 91,511,934	Y83C	probably damaging	Het
Vsir	A	G	10: 60,368,594	E172G	probably damaging	Het
Wwp2	T	C	8: 107,549,781	S508P	probably damaging	Het

Other mutations in Pde2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Pde2a	APN	7	101484589	nonsense	probably null
IGL00731:Pde2a	APN	7	101508099	missense	probably benign	0.04
IGL00807:Pde2a	APN	7	101504412	missense	probably damaging	1.00
IGL01339:Pde2a	APN	7	101507159	missense	probably benign
IGL01646:Pde2a	APN	7	101507711	missense	possibly damaging	0.95
IGL01960:Pde2a	APN	7	101504740	missense	probably benign	0.40
IGL02281:Pde2a	APN	7	101481392	missense	probably benign	0.34
IGL02318:Pde2a	APN	7	101503343	missense	possibly damaging	0.79
IGL02479:Pde2a	APN	7	101501083	missense	probably damaging	1.00
IGL02632:Pde2a	APN	7	101504656	missense	probably damaging	1.00
IGL02725:Pde2a	APN	7	101507218	missense	probably null	0.00
IGL02888:Pde2a	APN	7	101505069	missense	probably damaging	0.98
IGL03027:Pde2a	APN	7	101481420	missense	probably benign	0.01
IGL03114:Pde2a	APN	7	101508683	splice site	probably benign
PIT1430001:Pde2a	UTSW	7	101451477	splice site	probably benign
PIT4131001:Pde2a	UTSW	7	101511154	missense	probably damaging	0.98
PIT4431001:Pde2a	UTSW	7	101501897	missense	probably damaging	1.00
R1170:Pde2a	UTSW	7	101484543	missense	probably benign	0.00
R1298:Pde2a	UTSW	7	101507202	missense	probably benign	0.12
R1300:Pde2a	UTSW	7	101510404	missense	possibly damaging	0.48
R1451:Pde2a	UTSW	7	101421991	nonsense	probably null
R1731:Pde2a	UTSW	7	101501660	missense	probably damaging	1.00
R1863:Pde2a	UTSW	7	101511154	missense	probably damaging	1.00
R2258:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R2259:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R2260:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R4179:Pde2a	UTSW	7	101481383	makesense	probably null
R4688:Pde2a	UTSW	7	101502834	missense	probably benign
R4717:Pde2a	UTSW	7	101494672	missense	probably benign	0.00
R4723:Pde2a	UTSW	7	101494618	missense	possibly damaging	0.80
R4758:Pde2a	UTSW	7	101511499	missense	probably damaging	1.00
R4965:Pde2a	UTSW	7	101502933	missense	probably benign	0.01
R5034:Pde2a	UTSW	7	101502024	missense	probably benign	0.01
R5219:Pde2a	UTSW	7	101504604	missense	probably damaging	1.00
R5533:Pde2a	UTSW	7	101505980	missense	probably damaging	0.97
R6083:Pde2a	UTSW	7	101502879	missense	possibly damaging	0.93
R6114:Pde2a	UTSW	7	101511112	critical splice acceptor site	probably null
R6365:Pde2a	UTSW	7	101510363	missense	probably damaging	1.00
R6372:Pde2a	UTSW	7	101481392	missense	probably benign	0.34
R6395:Pde2a	UTSW	7	101501035	missense	probably benign	0.00
R6482:Pde2a	UTSW	7	101501037	missense	probably benign	0.11
R6492:Pde2a	UTSW	7	101500442	missense	possibly damaging	0.71
R6971:Pde2a	UTSW	7	101510313	nonsense	probably null
R7027:Pde2a	UTSW	7	101511597	missense	probably damaging	1.00
R7082:Pde2a	UTSW	7	101508096	missense	probably damaging	1.00
R7107:Pde2a	UTSW	7	101421968	missense	probably benign	0.01
R7142:Pde2a	UTSW	7	101504650	missense	probably damaging	1.00
R7203:Pde2a	UTSW	7	101509944	missense	possibly damaging	0.70
R7231:Pde2a	UTSW	7	101505953	missense	probably damaging	0.99
R7248:Pde2a	UTSW	7	101503390	missense	possibly damaging	0.88
R7570:Pde2a	UTSW	7	101502834	missense	probably benign	0.03
R7632:Pde2a	UTSW	7	101484594	missense	possibly damaging	0.64
R7658:Pde2a	UTSW	7	101511581	missense	possibly damaging	0.79
R8061:Pde2a	UTSW	7	101503972	missense	probably benign	0.29
R8098:Pde2a	UTSW	7	101421971	missense	probably benign
R8165:Pde2a	UTSW	7	101500448	critical splice donor site	probably null
R8297:Pde2a	UTSW	7	101504673	missense	possibly damaging	0.86
R8513:Pde2a	UTSW	7	101509765	missense	probably damaging	1.00
R8708:Pde2a	UTSW	7	101510381	missense	probably damaging	1.00
R8794:Pde2a	UTSW	7	101505929	missense	possibly damaging	0.89
R9045:Pde2a	UTSW	7	101503291	missense	unknown
R9054:Pde2a	UTSW	7	101507720	missense	probably damaging	1.00
R9344:Pde2a	UTSW	7	101495684	missense	possibly damaging	0.88
R9367:Pde2a	UTSW	7	101511154	missense	probably damaging	1.00
R9590:Pde2a	UTSW	7	101511550	missense	probably benign	0.34

Posted On

2013-12-03