Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02044:Pde8a'

184891

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde8a

Ensembl Gene

ENSMUSG00000025584

Gene Name

phosphodiesterase 8A

Synonyms

Pde8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02044

Quality Score

Status

Chromosome

Chromosomal Location

80863344-80984281 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 80967197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026672] [ENSMUST00000026672]

AlphaFold

O88502

Predicted Effect

probably null
Transcript: ENSMUST00000026672

SMART Domains

Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
Blast:REC	79	194	2e-48	BLAST
PAS	211	277	2.18e-2	SMART
Blast:HDc	403	451	4e-11	BLAST
HDc	548	734	5.78e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000026672

SMART Domains

Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
Blast:REC	79	194	2e-48	BLAST
PAS	211	277	2.18e-2	SMART
Blast:HDc	403	451	4e-11	BLAST
HDc	548	734	5.78e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130494

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 PDE8 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 found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	C	7: 139,562,735 (GRCm39)	D772G	possibly damaging	Het
Atp6v0a2	T	A	5: 124,783,954 (GRCm39)	N267K	probably benign	Het
Cx3cl1	T	A	8: 95,507,168 (GRCm39)	V391D	probably damaging	Het
Dscaml1	C	T	9: 45,658,241 (GRCm39)	R1671*	probably null	Het
Dzip3	A	T	16: 48,768,790 (GRCm39)	S443T	possibly damaging	Het
Hrh2	A	T	13: 54,368,965 (GRCm39)	T314S	probably benign	Het
Ifi206	C	T	1: 173,308,557 (GRCm39)	V480M	probably benign	Het
Krt84	A	G	15: 101,436,931 (GRCm39)	Y368H	probably damaging	Het
Lama1	T	C	17: 68,118,485 (GRCm39)	S2566P	probably benign	Het
Lyst	T	A	13: 13,887,431 (GRCm39)	F3087I	probably damaging	Het
Map3k19	A	T	1: 127,751,242 (GRCm39)	L703H	probably damaging	Het
Or8c9	A	G	9: 38,241,461 (GRCm39)	S193G	probably benign	Het
Or8g50	C	T	9: 39,648,270 (GRCm39)	S53L	possibly damaging	Het
Pard6a	A	G	8: 106,429,651 (GRCm39)	D203G	probably damaging	Het
Pate7	T	C	9: 35,687,959 (GRCm39)	K94E	probably benign	Het
Pdia6	C	A	12: 17,333,227 (GRCm39)	T400K	probably damaging	Het
Pdzd8	A	T	19: 59,303,724 (GRCm39)	V354D	possibly damaging	Het
Sec13	A	G	6: 113,713,381 (GRCm39)	I39T	probably damaging	Het
Smyd3	C	T	1: 178,799,844 (GRCm39)	S365N	probably benign	Het
Sorcs1	A	G	19: 50,276,597 (GRCm39)		probably benign	Het
Tjp2	T	G	19: 24,098,204 (GRCm39)	Y486S	probably damaging	Het
Tlr13	T	C	X: 105,200,703 (GRCm39)	F147L	probably damaging	Het
Ulk2	T	A	11: 61,672,465 (GRCm39)	N958Y	probably damaging	Het
Unk	T	A	11: 115,940,154 (GRCm39)	M169K	probably damaging	Het
Wdr27	T	C	17: 15,122,031 (GRCm39)	Y625C	possibly damaging	Het

Other mutations in Pde8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Pde8a	APN	7	80,956,456 (GRCm39)	missense	possibly damaging	0.62
IGL00808:Pde8a	APN	7	80,932,762 (GRCm39)	critical splice donor site	probably null
IGL01134:Pde8a	APN	7	80,968,826 (GRCm39)	missense	possibly damaging	0.86
IGL01443:Pde8a	APN	7	80,973,929 (GRCm39)	missense	probably damaging	1.00
IGL02269:Pde8a	APN	7	80,958,550 (GRCm39)	splice site	probably benign
IGL02528:Pde8a	APN	7	80,942,937 (GRCm39)	splice site	probably benign
IGL02738:Pde8a	APN	7	80,976,090 (GRCm39)	missense	probably damaging	1.00
IGL02937:Pde8a	APN	7	80,945,519 (GRCm39)	splice site	probably benign
IGL03072:Pde8a	APN	7	80,958,557 (GRCm39)	missense	probably damaging	1.00
cast_iron	UTSW	7	80,932,555 (GRCm39)	splice site	probably null
K7894:Pde8a	UTSW	7	80,956,513 (GRCm39)	missense	probably damaging	1.00
R0069:Pde8a	UTSW	7	80,968,871 (GRCm39)	splice site	probably benign
R0069:Pde8a	UTSW	7	80,968,871 (GRCm39)	splice site	probably benign
R0547:Pde8a	UTSW	7	80,973,878 (GRCm39)	missense	probably benign	0.00
R0552:Pde8a	UTSW	7	80,967,095 (GRCm39)	missense	probably benign	0.12
R1342:Pde8a	UTSW	7	80,952,042 (GRCm39)	critical splice donor site	probably null
R1469:Pde8a	UTSW	7	80,952,019 (GRCm39)	missense	probably damaging	1.00
R1469:Pde8a	UTSW	7	80,952,019 (GRCm39)	missense	probably damaging	1.00
R1502:Pde8a	UTSW	7	80,942,007 (GRCm39)	missense	probably damaging	1.00
R1568:Pde8a	UTSW	7	80,942,011 (GRCm39)	missense	probably damaging	1.00
R1768:Pde8a	UTSW	7	80,950,471 (GRCm39)	splice site	probably null
R2076:Pde8a	UTSW	7	80,958,693 (GRCm39)	missense	probably benign	0.11
R2165:Pde8a	UTSW	7	80,945,516 (GRCm39)	critical splice donor site	probably null
R2385:Pde8a	UTSW	7	80,932,740 (GRCm39)	missense	probably benign	0.45
R2518:Pde8a	UTSW	7	80,967,170 (GRCm39)	missense	probably benign	0.00
R4001:Pde8a	UTSW	7	80,967,104 (GRCm39)	missense	probably damaging	1.00
R4114:Pde8a	UTSW	7	80,932,555 (GRCm39)	splice site	probably null
R4115:Pde8a	UTSW	7	80,932,555 (GRCm39)	splice site	probably null
R4159:Pde8a	UTSW	7	80,970,407 (GRCm39)	missense	probably benign	0.13
R4299:Pde8a	UTSW	7	80,977,783 (GRCm39)	missense	probably benign
R4544:Pde8a	UTSW	7	80,977,847 (GRCm39)	missense	probably damaging	0.98
R4545:Pde8a	UTSW	7	80,977,847 (GRCm39)	missense	probably damaging	0.98
R4561:Pde8a	UTSW	7	80,958,568 (GRCm39)	nonsense	probably null
R4562:Pde8a	UTSW	7	80,958,568 (GRCm39)	nonsense	probably null
R4563:Pde8a	UTSW	7	80,958,568 (GRCm39)	nonsense	probably null
R4615:Pde8a	UTSW	7	80,970,485 (GRCm39)	missense	probably damaging	1.00
R4808:Pde8a	UTSW	7	80,932,679 (GRCm39)	missense	probably benign
R5396:Pde8a	UTSW	7	80,983,170 (GRCm39)	missense	probably damaging	1.00
R5840:Pde8a	UTSW	7	80,863,713 (GRCm39)	missense	probably benign
R5892:Pde8a	UTSW	7	80,945,439 (GRCm39)	missense	probably damaging	0.99
R6621:Pde8a	UTSW	7	80,942,878 (GRCm39)	critical splice acceptor site	probably null
R7067:Pde8a	UTSW	7	80,967,074 (GRCm39)	missense	probably benign	0.41
R7163:Pde8a	UTSW	7	80,956,456 (GRCm39)	missense	possibly damaging	0.62
R7483:Pde8a	UTSW	7	80,932,581 (GRCm39)	missense	probably benign	0.02
R7606:Pde8a	UTSW	7	80,982,715 (GRCm39)	missense	probably damaging	0.98
R7876:Pde8a	UTSW	7	80,973,819 (GRCm39)	missense	probably damaging	1.00
R8046:Pde8a	UTSW	7	80,967,118 (GRCm39)	missense	probably benign	0.14
R8046:Pde8a	UTSW	7	80,958,587 (GRCm39)	missense	possibly damaging	0.90
R8832:Pde8a	UTSW	7	80,956,498 (GRCm39)	missense	probably benign	0.16
R9133:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9134:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9166:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9169:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9170:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9341:Pde8a	UTSW	7	80,950,427 (GRCm39)	missense	probably benign	0.01
R9343:Pde8a	UTSW	7	80,950,427 (GRCm39)	missense	probably benign	0.01
R9354:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9378:Pde8a	UTSW	7	80,982,619 (GRCm39)	missense	probably damaging	1.00
R9672:Pde8a	UTSW	7	80,942,014 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07