Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Pde4a'

34788

Institutional Source

Beutler Lab

Gene Symbol

Pde4a

Ensembl Gene

ENSMUSG00000032177

Gene Name

phosphodiesterase 4A, cAMP specific

Synonyms

Dpde2, dunce, D9Ertd60e

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R0257 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

21165714-21213248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21192421 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 175 (P175L)

Ref Sequence

ENSEMBL: ENSMUSP00000037025 (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 damaging
Transcript: ENSMUST00000039413
AA Change: P175L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: P175L

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
AA Change: P118L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: P118L

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

Meta Mutation Damage Score

0.4583

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Pde4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pde4a	APN	9	21211061	missense	probably benign	0.01
IGL01330:Pde4a	APN	9	21192438	splice site	probably benign
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
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
R8073:Pde4a	UTSW	9	21210769	missense	probably damaging	1.00
R8133:Pde4a	UTSW	9	21191377	missense	possibly damaging	0.87
R8167:Pde4a	UTSW	9	21206173	missense	possibly damaging	0.95
R8297:Pde4a	UTSW	9	21166108	missense	possibly damaging	0.94
R8348:Pde4a	UTSW	9	21206238	missense	probably benign	0.35
R8448:Pde4a	UTSW	9	21206238	missense	probably benign	0.35
X0027:Pde4a	UTSW	9	21198654	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATAAGCCCTACAGGGTGGGAGC -3'
(R):5'- CACCACTTACTTGTTGCTGGGGATG -3'

Sequencing Primer
(F):5'- TGGGAGCCCCAACTACTTG -3'
(R):5'- ATGGGCACATTGGTTAGGAG -3'

Posted On

2013-05-09