Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00731:Pde2a'

12956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

IGL00731

Quality Score

Status

Chromosome

Chromosomal Location

101070905-101162026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101157306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 693 (Y693C)

Ref Sequence

ENSEMBL: ENSMUSP00000081956 (fasta)

Gene Model

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

AlphaFold

Q922S4

Predicted Effect

probably benign
Transcript: ENSMUST00000084894
AA Change: Y693C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: Y693C

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
AA Change: Y671C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Y671C

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
AA Change: Y667C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Y667C

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: ENSMUST00000209537
AA Change: Y677C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

probably benign
Transcript: ENSMUST00000211368
AA Change: Y667C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,771,501 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,400,183 (GRCm39)	F1531L	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dab2	T	C	15: 6,465,191 (GRCm39)	S463P	possibly damaging	Het
Ehf	C	T	2: 103,097,185 (GRCm39)		probably null	Het
Fnbp4	G	T	2: 90,598,987 (GRCm39)	V704L	probably benign	Het
Gbp7	T	C	3: 142,252,189 (GRCm39)	S591P	probably benign	Het
Gpr155	A	G	2: 73,192,957 (GRCm39)	L498P	probably damaging	Het
Igll1	T	C	16: 16,678,783 (GRCm39)	T176A	probably benign	Het
Klk1b21	A	G	7: 43,755,347 (GRCm39)	E182G	possibly damaging	Het
Npat	G	A	9: 53,473,386 (GRCm39)	E393K	probably damaging	Het
Npnt	C	T	3: 132,610,418 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,749,237 (GRCm39)	S1269P	possibly damaging	Het
Rasal2	A	C	1: 156,985,334 (GRCm39)	D804E	probably benign	Het
Rdh10	A	G	1: 16,178,099 (GRCm39)	N124D	probably benign	Het
Slit3	G	T	11: 35,512,981 (GRCm39)	D536Y	probably damaging	Het
Snx24	C	T	18: 53,517,681 (GRCm39)		probably benign	Het
Spink12	G	A	18: 44,241,177 (GRCm39)		probably benign	Het

Other mutations in Pde2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Pde2a	APN	7	101,133,796 (GRCm39)	nonsense	probably null
IGL00807:Pde2a	APN	7	101,153,619 (GRCm39)	missense	probably damaging	1.00
IGL01339:Pde2a	APN	7	101,156,366 (GRCm39)	missense	probably benign
IGL01503:Pde2a	APN	7	101,151,143 (GRCm39)	splice site	probably benign
IGL01646:Pde2a	APN	7	101,156,918 (GRCm39)	missense	possibly damaging	0.95
IGL01960:Pde2a	APN	7	101,153,947 (GRCm39)	missense	probably benign	0.40
IGL02281:Pde2a	APN	7	101,130,599 (GRCm39)	missense	probably benign	0.34
IGL02318:Pde2a	APN	7	101,152,550 (GRCm39)	missense	possibly damaging	0.79
IGL02479:Pde2a	APN	7	101,150,290 (GRCm39)	missense	probably damaging	1.00
IGL02632:Pde2a	APN	7	101,153,863 (GRCm39)	missense	probably damaging	1.00
IGL02725:Pde2a	APN	7	101,156,425 (GRCm39)	missense	probably null	0.00
IGL02888:Pde2a	APN	7	101,154,276 (GRCm39)	missense	probably damaging	0.98
IGL03027:Pde2a	APN	7	101,130,627 (GRCm39)	missense	probably benign	0.01
IGL03114:Pde2a	APN	7	101,157,890 (GRCm39)	splice site	probably benign
PIT1430001:Pde2a	UTSW	7	101,100,684 (GRCm39)	splice site	probably benign
PIT4131001:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	0.98
PIT4431001:Pde2a	UTSW	7	101,151,104 (GRCm39)	missense	probably damaging	1.00
R1170:Pde2a	UTSW	7	101,133,750 (GRCm39)	missense	probably benign	0.00
R1298:Pde2a	UTSW	7	101,156,409 (GRCm39)	missense	probably benign	0.12
R1300:Pde2a	UTSW	7	101,159,611 (GRCm39)	missense	possibly damaging	0.48
R1451:Pde2a	UTSW	7	101,071,198 (GRCm39)	nonsense	probably null
R1731:Pde2a	UTSW	7	101,150,867 (GRCm39)	missense	probably damaging	1.00
R1863:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	1.00
R2258:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R2259:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R2260:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R4179:Pde2a	UTSW	7	101,130,590 (GRCm39)	makesense	probably null
R4688:Pde2a	UTSW	7	101,152,041 (GRCm39)	missense	probably benign
R4717:Pde2a	UTSW	7	101,143,879 (GRCm39)	missense	probably benign	0.00
R4723:Pde2a	UTSW	7	101,143,825 (GRCm39)	missense	possibly damaging	0.80
R4758:Pde2a	UTSW	7	101,160,706 (GRCm39)	missense	probably damaging	1.00
R4965:Pde2a	UTSW	7	101,152,140 (GRCm39)	missense	probably benign	0.01
R5034:Pde2a	UTSW	7	101,151,231 (GRCm39)	missense	probably benign	0.01
R5219:Pde2a	UTSW	7	101,153,811 (GRCm39)	missense	probably damaging	1.00
R5533:Pde2a	UTSW	7	101,155,187 (GRCm39)	missense	probably damaging	0.97
R6083:Pde2a	UTSW	7	101,152,086 (GRCm39)	missense	possibly damaging	0.93
R6114:Pde2a	UTSW	7	101,160,319 (GRCm39)	critical splice acceptor site	probably null
R6365:Pde2a	UTSW	7	101,159,570 (GRCm39)	missense	probably damaging	1.00
R6372:Pde2a	UTSW	7	101,130,599 (GRCm39)	missense	probably benign	0.34
R6395:Pde2a	UTSW	7	101,150,242 (GRCm39)	missense	probably benign	0.00
R6482:Pde2a	UTSW	7	101,150,244 (GRCm39)	missense	probably benign	0.11
R6492:Pde2a	UTSW	7	101,149,649 (GRCm39)	missense	possibly damaging	0.71
R6971:Pde2a	UTSW	7	101,159,520 (GRCm39)	nonsense	probably null
R7027:Pde2a	UTSW	7	101,160,804 (GRCm39)	missense	probably damaging	1.00
R7082:Pde2a	UTSW	7	101,157,303 (GRCm39)	missense	probably damaging	1.00
R7107:Pde2a	UTSW	7	101,071,175 (GRCm39)	missense	probably benign	0.01
R7142:Pde2a	UTSW	7	101,153,857 (GRCm39)	missense	probably damaging	1.00
R7203:Pde2a	UTSW	7	101,159,151 (GRCm39)	missense	possibly damaging	0.70
R7231:Pde2a	UTSW	7	101,155,160 (GRCm39)	missense	probably damaging	0.99
R7248:Pde2a	UTSW	7	101,152,597 (GRCm39)	missense	possibly damaging	0.88
R7570:Pde2a	UTSW	7	101,152,041 (GRCm39)	missense	probably benign	0.03
R7632:Pde2a	UTSW	7	101,133,801 (GRCm39)	missense	possibly damaging	0.64
R7658:Pde2a	UTSW	7	101,160,788 (GRCm39)	missense	possibly damaging	0.79
R8061:Pde2a	UTSW	7	101,153,179 (GRCm39)	missense	probably benign	0.29
R8098:Pde2a	UTSW	7	101,071,178 (GRCm39)	missense	probably benign
R8165:Pde2a	UTSW	7	101,149,655 (GRCm39)	critical splice donor site	probably null
R8297:Pde2a	UTSW	7	101,153,880 (GRCm39)	missense	possibly damaging	0.86
R8513:Pde2a	UTSW	7	101,158,972 (GRCm39)	missense	probably damaging	1.00
R8708:Pde2a	UTSW	7	101,159,588 (GRCm39)	missense	probably damaging	1.00
R8794:Pde2a	UTSW	7	101,155,136 (GRCm39)	missense	possibly damaging	0.89
R9045:Pde2a	UTSW	7	101,152,498 (GRCm39)	missense	unknown
R9054:Pde2a	UTSW	7	101,156,927 (GRCm39)	missense	probably damaging	1.00
R9344:Pde2a	UTSW	7	101,144,891 (GRCm39)	missense	possibly damaging	0.88
R9367:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	1.00
R9590:Pde2a	UTSW	7	101,160,757 (GRCm39)	missense	probably benign	0.34

Posted On

2012-12-06