Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Pde4a'

92012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4a

Ensembl Gene

ENSMUSG00000032177

Gene Name

phosphodiesterase 4A, cAMP specific

Synonyms

D9Ertd60e, dunce, Dpde2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

21077010-21124544 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 21122646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111118 (fasta)

Gene Model

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

AlphaFold

O89084

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: ENSMUST00000131769

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,332,633 (GRCm39)		probably benign	Het
4921524J17Rik	T	C	8: 86,138,871 (GRCm39)	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,669,429 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,939,867 (GRCm39)	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,781 (GRCm39)	Y320C	probably damaging	Het
Acp6	T	A	3: 97,083,036 (GRCm39)	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,235,978 (GRCm39)	Q478K	probably damaging	Het
Akap13	A	G	7: 75,369,928 (GRCm39)	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,397,353 (GRCm39)	I2528F	probably damaging	Het
Akap9	G	A	5: 4,082,839 (GRCm39)	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,390,508 (GRCm39)	V490M	probably damaging	Het
Aspm	C	T	1: 139,417,408 (GRCm39)	R1537*	probably null	Het
Bmf	G	A	2: 118,379,639 (GRCm39)	P46S	probably benign	Het
Brf1	T	A	12: 112,951,703 (GRCm39)	H92L	probably benign	Het
Chchd1	A	G	14: 20,753,245 (GRCm39)	N35S	probably benign	Het
Cntnap3	C	T	13: 64,905,115 (GRCm39)	G889S	probably damaging	Het
Col6a4	T	C	9: 105,924,906 (GRCm39)		probably benign	Het
Crispld1	A	G	1: 17,816,949 (GRCm39)		probably null	Het
Ddx27	T	C	2: 166,863,964 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 139,097,504 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,814,166 (GRCm39)	V1461A	probably damaging	Het
Drc7	C	T	8: 95,804,430 (GRCm39)	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,935,742 (GRCm39)	E13G	probably damaging	Het
Egf	A	G	3: 129,499,909 (GRCm39)		probably benign	Het
Hpse2	T	C	19: 43,373,228 (GRCm39)	S134G	probably benign	Het
Hydin	A	G	8: 111,284,345 (GRCm39)	T3206A	probably benign	Het
Ier5l	T	A	2: 30,363,966 (GRCm39)	S20C	probably damaging	Het
Il1r1	A	G	1: 40,341,560 (GRCm39)	E324G	probably benign	Het
Kdm4b	C	T	17: 56,660,522 (GRCm39)		probably benign	Het
Lztfl1	T	A	9: 123,529,156 (GRCm39)	E298D	probably benign	Het
Myo1b	A	T	1: 51,815,405 (GRCm39)	M647K	probably damaging	Het
Or13a25	C	T	7: 140,247,584 (GRCm39)	A128V	probably damaging	Het
Or52z14	A	T	7: 103,253,274 (GRCm39)	T138S	probably benign	Het
Or5j1	G	T	2: 86,878,632 (GRCm39)		probably benign	Het
Parvb	A	T	15: 84,187,666 (GRCm39)	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pcnx2	C	A	8: 126,566,372 (GRCm39)	A1024S	possibly damaging	Het
Pgr	A	T	9: 8,903,692 (GRCm39)	H571L	possibly damaging	Het
Phf20	G	T	2: 156,144,809 (GRCm39)	E806*	probably null	Het
Pilra	T	A	5: 137,833,803 (GRCm39)	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,480,622 (GRCm39)	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,318,705 (GRCm39)	N708S	probably benign	Het
Resf1	C	T	6: 149,230,449 (GRCm39)	T1165M	probably benign	Het
Rnase4	A	T	14: 51,342,378 (GRCm39)	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,443,699 (GRCm39)	T85S	probably benign	Het
Scaf8	C	T	17: 3,246,124 (GRCm39)	P738S	probably damaging	Het
Sec31a	A	T	5: 100,550,217 (GRCm39)		probably benign	Het
Sel1l	C	T	12: 91,784,064 (GRCm39)	V459I	probably damaging	Het
Senp7	A	T	16: 55,996,186 (GRCm39)	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,381,985 (GRCm39)	K151N	probably benign	Het
Slc8a3	A	G	12: 81,362,576 (GRCm39)	F81S	probably damaging	Het
Spire2	T	A	8: 124,083,502 (GRCm39)	L162Q	probably damaging	Het
Syt17	A	G	7: 118,033,216 (GRCm39)	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,923,018 (GRCm39)	V379D	probably damaging	Het
Tenm3	A	T	8: 48,707,512 (GRCm39)	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,630,501 (GRCm39)		noncoding transcript	Het
Ttc13	T	C	8: 125,403,083 (GRCm39)	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,255,529 (GRCm39)	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 23,011,977 (GRCm39)	V103E	probably damaging	Het
Vmn1r80	A	G	7: 11,927,307 (GRCm39)	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,940,670 (GRCm39)	F141Y	probably damaging	Het
Zfp143	T	A	7: 109,673,333 (GRCm39)	Y143*	probably null	Het
Zfp207	T	A	11: 80,276,796 (GRCm39)	C26S	probably damaging	Het

Other mutations in Pde4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pde4a	APN	9	21,122,357 (GRCm39)	missense	probably benign	0.01
IGL01330:Pde4a	APN	9	21,103,734 (GRCm39)	splice site	probably benign
IGL01403:Pde4a	APN	9	21,116,412 (GRCm39)	missense	probably damaging	1.00
IGL02010:Pde4a	APN	9	21,114,850 (GRCm39)	critical splice donor site	probably null
IGL02296:Pde4a	APN	9	21,103,865 (GRCm39)	missense	possibly damaging	0.94
IGL02637:Pde4a	APN	9	21,112,628 (GRCm39)	missense	probably damaging	0.97
PIT4696001:Pde4a	UTSW	9	21,122,297 (GRCm39)	missense	probably benign
R0032:Pde4a	UTSW	9	21,112,728 (GRCm39)	splice site	probably benign
R0032:Pde4a	UTSW	9	21,112,728 (GRCm39)	splice site	probably benign
R0257:Pde4a	UTSW	9	21,103,717 (GRCm39)	missense	probably damaging	1.00
R0504:Pde4a	UTSW	9	21,115,699 (GRCm39)	missense	probably damaging	1.00
R1437:Pde4a	UTSW	9	21,103,888 (GRCm39)	critical splice donor site	probably null
R1524:Pde4a	UTSW	9	21,112,543 (GRCm39)	missense	probably damaging	0.98
R1750:Pde4a	UTSW	9	21,114,528 (GRCm39)	missense	probably damaging	1.00
R2239:Pde4a	UTSW	9	21,122,564 (GRCm39)	missense	probably damaging	1.00
R2905:Pde4a	UTSW	9	21,112,645 (GRCm39)	missense	probably benign	0.01
R2991:Pde4a	UTSW	9	21,114,539 (GRCm39)	missense	probably damaging	0.96
R3972:Pde4a	UTSW	9	21,117,513 (GRCm39)	missense	probably damaging	1.00
R4826:Pde4a	UTSW	9	21,103,676 (GRCm39)	splice site	probably null
R4922:Pde4a	UTSW	9	21,122,009 (GRCm39)	missense	probably damaging	1.00
R5195:Pde4a	UTSW	9	21,115,629 (GRCm39)	missense	possibly damaging	0.70
R5208:Pde4a	UTSW	9	21,114,854 (GRCm39)	splice site	probably null
R5552:Pde4a	UTSW	9	21,112,682 (GRCm39)	missense	probably damaging	1.00
R5713:Pde4a	UTSW	9	21,114,813 (GRCm39)	missense	probably damaging	1.00
R6722:Pde4a	UTSW	9	21,122,521 (GRCm39)	missense	probably damaging	1.00
R6792:Pde4a	UTSW	9	21,103,886 (GRCm39)	missense	probably benign	0.03
R6861:Pde4a	UTSW	9	21,116,597 (GRCm39)	missense	probably damaging	1.00
R6901:Pde4a	UTSW	9	21,116,266 (GRCm39)	missense	probably benign	0.37
R7300:Pde4a	UTSW	9	21,117,618 (GRCm39)	missense	probably damaging	1.00
R7690:Pde4a	UTSW	9	21,077,300 (GRCm39)	missense	probably damaging	1.00
R7798:Pde4a	UTSW	9	21,109,959 (GRCm39)	missense	possibly damaging	0.63
R8073:Pde4a	UTSW	9	21,122,065 (GRCm39)	missense	probably damaging	1.00
R8133:Pde4a	UTSW	9	21,102,673 (GRCm39)	missense	possibly damaging	0.87
R8167:Pde4a	UTSW	9	21,117,469 (GRCm39)	missense	possibly damaging	0.95
R8297:Pde4a	UTSW	9	21,077,404 (GRCm39)	missense	possibly damaging	0.94
R8348:Pde4a	UTSW	9	21,117,534 (GRCm39)	missense	probably benign	0.35
R8448:Pde4a	UTSW	9	21,117,534 (GRCm39)	missense	probably benign	0.35
R8853:Pde4a	UTSW	9	21,106,119 (GRCm39)	missense	possibly damaging	0.81
R8953:Pde4a	UTSW	9	21,122,030 (GRCm39)	missense	probably damaging	1.00
R9167:Pde4a	UTSW	9	21,102,798 (GRCm39)	missense	probably benign	0.20
R9492:Pde4a	UTSW	9	21,106,096 (GRCm39)	missense	probably damaging	1.00
R9686:Pde4a	UTSW	9	21,117,562 (GRCm39)	missense	probably benign	0.09
X0027:Pde4a	UTSW	9	21,109,950 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09