Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Pde2a'

353863

Institutional Source

Beutler Lab

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

MMRRC Submission

041939-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101421691-101512827 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101502834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 316 (N316S)

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
AA Change: N342S

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

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: N342S

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: N316S

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

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: N316S

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: N316S

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

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: N316S

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
AA Change: N326S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211051

Predicted Effect

probably benign
Transcript: ENSMUST00000211368
AA Change: N316S

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,449	S530P	probably benign	Het
1700003E16Rik	A	G	6: 83,162,698	N535S	probably damaging	Het
2810403A07Rik	T	A	3: 88,686,517	M71K	probably damaging	Het
9930021J03Rik	A	G	19: 29,717,101	I1664T	probably benign	Het
Abcc12	T	C	8: 86,548,694	S452G	possibly damaging	Het
Acacb	C	A	5: 114,204,763	Q897K	probably benign	Het
Acot3	C	A	12: 84,053,917	R145S	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankrd54	A	T	15: 79,054,582	Y247N	probably damaging	Het
Arl11	G	A	14: 61,311,097	V119I	probably benign	Het
Atxn7	T	A	14: 14,089,288	M268K	probably benign	Het
Bms1	G	A	6: 118,392,706	R934C	probably damaging	Het
Ccdc129	G	A	6: 55,967,147		probably null	Het
Chrnb3	T	C	8: 27,394,119	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cnr1	A	T	4: 33,944,571	I320F	probably benign	Het
Cntn4	C	T	6: 106,437,949	P147L	probably damaging	Het
Col24a1	G	A	3: 145,314,383	V172I	probably benign	Het
Col9a3	A	G	2: 180,607,631	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,482,360	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,196,657	V192A	possibly damaging	Het
Deptor	A	G	15: 55,208,781	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,684,050	L38Q	probably damaging	Het
Dvl2	G	A	11: 70,007,518	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,655,528	I3435S	probably damaging	Het
Eif2b3	A	G	4: 117,058,849	N218D	probably benign	Het
Epha2	A	G	4: 141,318,981	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367	L177F	probably damaging	Het
Fam214b	A	G	4: 43,034,663	F352S	probably damaging	Het
Fam98c	C	T	7: 29,155,241	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,732,554	T19A	probably benign	Het
Fbxo47	A	G	11: 97,856,223	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,537,311	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,872,523	D32G	probably damaging	Het
Gpr135	T	C	12: 72,070,946	T16A	probably benign	Het
Gpr160	A	T	3: 30,896,686	R302S	probably benign	Het
Hrh2	C	A	13: 54,214,801	N265K	probably benign	Het
Htatip2	C	A	7: 49,773,423	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,407,635	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,425,894	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,108,846	S161P	probably damaging	Het
Kcnc1	A	G	7: 46,397,835	D53G	probably benign	Het
Lce1h	G	T	3: 92,763,567	R93S	unknown	Het
Lce1k	T	C	3: 92,806,644	S78G	unknown	Het
Lhcgr	T	A	17: 88,765,152	I156F	probably damaging	Het
Lpl	T	C	8: 68,899,425	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,479,743	R853S	probably damaging	Het
Lrrc7	A	G	3: 158,148,605	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,737,698	Q67*	probably null	Het
Megf6	A	T	4: 154,253,814	D447V	probably damaging	Het
Mep1a	T	C	17: 43,482,248	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,315,781	D95G	probably benign	Het
Npepl1	A	T	2: 174,114,442	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,547,237	S262P	probably benign	Het
Nrp1	A	G	8: 128,502,566	N842D	probably benign	Het
Olfml3	A	G	3: 103,732,181		probably benign	Het
Olfr1375	A	G	11: 51,048,988	R294G	probably damaging	Het
Olfr1505	A	T	19: 13,919,241	T74S	probably benign	Het
Olfr32	T	A	2: 90,138,999	N47Y	possibly damaging	Het
Olfr421-ps1	T	C	1: 174,151,596	Y27H	possibly damaging	Het
Olfr711	T	A	7: 106,971,861	Y161F	probably benign	Het
Olfr773	G	A	10: 129,186,645	P259S	probably damaging	Het
Olfr918	A	G	9: 38,673,363	L27P	probably damaging	Het
Pde4dip	T	A	3: 97,843,677	R74*	probably null	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Piezo1	A	T	8: 122,488,539	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 120,167,933	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,644,445	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,466,799	T131K	probably benign	Het
Pros1	T	C	16: 62,889,007		probably null	Het
Prrc2c	G	T	1: 162,697,687	P450Q	unknown	Het
Ptbp1	G	T	10: 79,856,508	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,206,225	L997F	probably damaging	Het
Rims1	G	T	1: 22,479,447	S525*	probably null	Het
Sh2b3	T	A	5: 121,818,634	D318V	probably benign	Het
Slc16a13	A	T	11: 70,220,275	I88N	probably damaging	Het
Slit2	T	A	5: 48,257,003		probably null	Het
Snx10	A	G	6: 51,579,938	N67S	probably damaging	Het
Stil	A	G	4: 115,041,308	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,135,076		probably null	Het
Sympk	A	G	7: 19,054,410	S1254G	probably benign	Het
Syt15	G	T	14: 34,228,054	G377V	probably damaging	Het
Taar4	A	T	10: 23,960,833	I114F	probably damaging	Het
Tcaf3	G	A	6: 42,593,366		probably null	Het
Tgm7	A	T	2: 121,094,021	N558K	probably benign	Het
Tln2	T	G	9: 67,397,653	M1L	probably benign	Het
Trim50	C	T	5: 135,367,140	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,491,392	Y192*	probably null	Het
Ube3b	T	C	5: 114,393,078	V211A	probably benign	Het
Ush2a	A	G	1: 188,399,941	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,102,119	M183V	probably damaging	Het
Vps13d	G	T	4: 145,178,212	Q115K	probably benign	Het
Zfp358	A	G	8: 3,495,493	D25G	probably damaging	Het
Zfp521	T	G	18: 13,844,590	K922T	probably damaging	Het
Zfp521	T	A	18: 13,844,591	K922*	probably null	Het
Zfp68	T	A	5: 138,616,481	K4*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGTGTCTTTGGAATGGG -3'
(R):5'- AATGTGGGTTCCTCCTCAGG -3'

Sequencing Primer
(F):5'- CTTTGGAATGGGGTAGCCTAGAG -3'
(R):5'- GGAACTTCTAGGCTCCCGTGATC -3'

Posted On

2015-10-21