Mutagenetix > Incidental Mutation

Incidental Mutation 'R4114:Pde8a'

314549

Institutional Source

Beutler Lab

Gene Symbol

Pde8a

Ensembl Gene

ENSMUSG00000025584

Gene Name

phosphodiesterase 8A

Synonyms

Pde8

MMRRC Submission

040990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80863344-80984281 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80932555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026672 (fasta)

Gene Model

predicted gene model for transcript(s): [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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (37/37)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	G	11: 117,693,793 (GRCm39)	S87A	probably damaging	Het
Abca16	T	C	7: 120,126,290 (GRCm39)	F1149L	probably benign	Het
Abcf1	A	T	17: 36,270,146 (GRCm39)	D637E	probably benign	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cdh23	A	G	10: 60,256,819 (GRCm39)		probably null	Het
Cep44	T	C	8: 56,998,457 (GRCm39)	T74A	probably benign	Het
Colq	T	A	14: 31,279,824 (GRCm39)	M1L	probably benign	Het
Cym	A	T	3: 107,127,065 (GRCm39)	L30Q	probably damaging	Het
Dpp6	T	A	5: 27,674,485 (GRCm39)		probably null	Het
Gbe1	G	T	16: 70,280,715 (GRCm39)	G372V	possibly damaging	Het
Hdc	T	A	2: 126,443,738 (GRCm39)	M314L	probably benign	Het
Ino80b	A	G	6: 83,101,121 (GRCm39)	S149P	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nlrp4a	T	G	7: 26,149,365 (GRCm39)	F324C	probably damaging	Het
Nop56	T	C	2: 130,118,593 (GRCm39)		probably null	Het
Or6c6c	T	C	10: 129,541,668 (GRCm39)	L307S	probably benign	Het
Or8u9	A	T	2: 86,001,759 (GRCm39)	V134D	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,093 (GRCm39)	N353S	probably benign	Het
Pramel29	A	T	4: 143,936,173 (GRCm39)	L29H	probably damaging	Het
Ryr2	C	T	13: 11,707,568 (GRCm39)	R2823H	probably damaging	Het
Scart2	T	C	7: 139,877,823 (GRCm39)	V935A	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Slc7a1	T	C	5: 148,278,867 (GRCm39)	T302A	probably damaging	Het
Sult2a2	A	T	7: 13,468,708 (GRCm39)	Q58L	probably benign	Het
Tek	T	C	4: 94,737,920 (GRCm39)	S657P	probably damaging	Het
Trim5	A	G	7: 103,914,947 (GRCm39)	L374P	probably damaging	Het
Tspan18	C	A	2: 93,142,291 (GRCm39)		probably null	Het
Vmn2r37	T	A	7: 9,213,092 (GRCm39)		probably null	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zfp35	A	C	18: 24,135,766 (GRCm39)	I37L	probably benign	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
IGL02044:Pde8a	APN	7	80,967,197 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CATTTTAGCATTGACTGGCCG -3'
(R):5'- GACCCATGGAACTCAGTCAC -3'

Sequencing Primer
(F):5'- ACTGGCCGATGAATGCTAATGTC -3'
(R):5'- GCATCCATCTGTCGGGGATATC -3'

Posted On

2015-05-14