Mutagenetix > Incidental Mutations

Incidental Mutation 'R2259:Pde2a'

243640

Institutional Source

Beutler Lab

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

MMRRC Submission

040259-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101421691-101512827 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101484567 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 85 (D85V)

Ref Sequence

ENSEMBL: ENSMUSP00000147847 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084894
AA Change: D111V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D111V

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 damaging
Transcript: ENSMUST00000163751
AA Change: D85V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D85V

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 damaging
Transcript: ENSMUST00000166652
AA Change: D85V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D85V

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 damaging
Transcript: ENSMUST00000209537
AA Change: D95V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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 damaging
Transcript: ENSMUST00000211368
AA Change: D85V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTCACACCTTGGATTGAG -3'
(R):5'- TACTTCGCAGTAGACCCACTTGG -3'

Sequencing Primer
(F):5'- GTCGGTAAGGAGAGTAACAGATTCC -3'
(R):5'- CCACTTGGGCAGGGAGAC -3'

Posted On

2014-10-16