Mutagenetix > Incidental Mutations

Incidental Mutation 'R1170:Pde2a'

99303

Institutional Source

Beutler Lab

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

MMRRC Submission

039243-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101421691-101512827 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101484543 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000081956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210092] [ENSMUST00000210364] [ENSMUST00000211368]

Predicted Effect

probably benign
Transcript: ENSMUST00000084894
AA Change: E103G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: E103G

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: E77G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: E77G

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: E77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: E77G

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: E87G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209695

Predicted Effect

probably benign
Transcript: ENSMUST00000210092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210348

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211051

Predicted Effect

probably benign
Transcript: ENSMUST00000211368
AA Change: E77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1829

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	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
IGL01503:Pde2a	APN	7	101501936	splice site	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
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

Predicted Primers

Posted On

2014-01-15