Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01330:Pde4a'

74495

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4a

Ensembl Gene

ENSMUSG00000032177

Gene Name

phosphodiesterase 4A, cAMP specific

Synonyms

Dpde2, dunce, D9Ertd60e

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

21165714-21213248 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 21192438 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003395] [ENSMUST00000039413] [ENSMUST00000115458]

Predicted Effect

probably benign
Transcript: ENSMUST00000003395

SMART Domains

Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177

Domain	Start	End	E-Value	Type
low complexity region	62	87	N/A	INTRINSIC
HDc	182	357	7.12e-5	SMART
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039413

SMART Domains

Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	92	102	N/A	INTRINSIC
low complexity region	296	321	N/A	INTRINSIC
HDc	416	591	7.12e-5	SMART
low complexity region	696	709	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115458

SMART Domains

Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
low complexity region	239	264	N/A	INTRINSIC
HDc	359	534	7.12e-5	SMART
low complexity region	639	652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140440

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice have a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677	I43V	probably damaging	Het
Acot11	T	C	4: 106,771,484	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913		probably benign	Het
Capza2	T	C	6: 17,654,171		probably null	Het
Cerkl	A	G	2: 79,368,781	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300	S31L	probably benign	Het
Faim	T	A	9: 98,992,535	M67K	probably damaging	Het
Frem2	T	G	3: 53,655,241	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142		probably benign	Het
Olfr876	T	A	9: 37,804,220	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578	I770F	probably benign	Het
Prkacb	T	G	3: 146,751,511	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852		probably benign	Het
Shcbp1	T	C	8: 4,736,372	T577A	probably benign	Het
Siglec1	A	T	2: 131,083,536	V335D	probably damaging	Het
Siglec1	A	T	2: 131,075,005	L1110*	probably null	Het
Slc4a11	A	G	2: 130,687,682	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483	D255G	possibly damaging	Het

Other mutations in Pde4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pde4a	APN	9	21211061	missense	probably benign	0.01
IGL01403:Pde4a	APN	9	21205116	missense	probably damaging	1.00
IGL01610:Pde4a	APN	9	21211350	utr 3 prime	probably benign
IGL02010:Pde4a	APN	9	21203554	critical splice donor site	probably null
IGL02296:Pde4a	APN	9	21192569	missense	possibly damaging	0.94
IGL02637:Pde4a	APN	9	21201332	missense	probably damaging	0.97
PIT4696001:Pde4a	UTSW	9	21211001	missense	probably benign
R0032:Pde4a	UTSW	9	21201432	splice site	probably benign
R0032:Pde4a	UTSW	9	21201432	splice site	probably benign
R0257:Pde4a	UTSW	9	21192421	missense	probably damaging	1.00
R0504:Pde4a	UTSW	9	21204403	missense	probably damaging	1.00
R1437:Pde4a	UTSW	9	21192592	critical splice donor site	probably null
R1524:Pde4a	UTSW	9	21201247	missense	probably damaging	0.98
R1750:Pde4a	UTSW	9	21203232	missense	probably damaging	1.00
R2239:Pde4a	UTSW	9	21211268	missense	probably damaging	1.00
R2905:Pde4a	UTSW	9	21201349	missense	probably benign	0.01
R2991:Pde4a	UTSW	9	21203243	missense	probably damaging	0.96
R3972:Pde4a	UTSW	9	21206217	missense	probably damaging	1.00
R4826:Pde4a	UTSW	9	21192380	splice site	probably null
R4922:Pde4a	UTSW	9	21210713	missense	probably damaging	1.00
R5195:Pde4a	UTSW	9	21204333	missense	possibly damaging	0.70
R5208:Pde4a	UTSW	9	21203558	splice site	probably null
R5552:Pde4a	UTSW	9	21201386	missense	probably damaging	1.00
R5713:Pde4a	UTSW	9	21203517	missense	probably damaging	1.00
R6722:Pde4a	UTSW	9	21211225	missense	probably damaging	1.00
R6792:Pde4a	UTSW	9	21192590	missense	probably benign	0.03
R6861:Pde4a	UTSW	9	21205301	missense	probably damaging	1.00
R6901:Pde4a	UTSW	9	21204970	missense	probably benign	0.37
R7300:Pde4a	UTSW	9	21206322	missense	probably damaging	1.00
R7690:Pde4a	UTSW	9	21166004	missense	probably damaging	1.00
R7798:Pde4a	UTSW	9	21198663	missense	possibly damaging	0.63
X0027:Pde4a	UTSW	9	21198654	missense	probably damaging	1.00

Posted On

2013-10-07