Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Pde8a'

343099

Institutional Source

Beutler Lab

Gene Symbol

Pde8a

Ensembl Gene

ENSMUSG00000025584

Gene Name

phosphodiesterase 8A

Synonyms

Pde8

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81213596-81334533 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 81308820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 315 (Y315*)

Ref Sequence

ENSEMBL: ENSMUSP00000026672 (fasta)

Gene Model

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

AlphaFold

O88502

Predicted Effect

probably null
Transcript: ENSMUST00000026672
AA Change: Y315*

SMART Domains

Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: Y315*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	Het

Other mutations in Pde8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Pde8a	APN	7	81306708	missense	possibly damaging	0.62
IGL00808:Pde8a	APN	7	81283014	critical splice donor site	probably null
IGL01134:Pde8a	APN	7	81319078	missense	possibly damaging	0.86
IGL01443:Pde8a	APN	7	81324181	missense	probably damaging	1.00
IGL02044:Pde8a	APN	7	81317449	critical splice donor site	probably null
IGL02269:Pde8a	APN	7	81308802	splice site	probably benign
IGL02528:Pde8a	APN	7	81293189	splice site	probably benign
IGL02738:Pde8a	APN	7	81326342	missense	probably damaging	1.00
IGL02937:Pde8a	APN	7	81295771	splice site	probably benign
IGL03072:Pde8a	APN	7	81308809	missense	probably damaging	1.00
cast_iron	UTSW	7	81282807	splice site	probably null
K7894:Pde8a	UTSW	7	81306765	missense	probably damaging	1.00
R0069:Pde8a	UTSW	7	81319123	splice site	probably benign
R0069:Pde8a	UTSW	7	81319123	splice site	probably benign
R0547:Pde8a	UTSW	7	81324130	missense	probably benign	0.00
R0552:Pde8a	UTSW	7	81317347	missense	probably benign	0.12
R1342:Pde8a	UTSW	7	81302294	critical splice donor site	probably null
R1469:Pde8a	UTSW	7	81302271	missense	probably damaging	1.00
R1469:Pde8a	UTSW	7	81302271	missense	probably damaging	1.00
R1502:Pde8a	UTSW	7	81292259	missense	probably damaging	1.00
R1568:Pde8a	UTSW	7	81292263	missense	probably damaging	1.00
R1768:Pde8a	UTSW	7	81300723	splice site	probably null
R2076:Pde8a	UTSW	7	81308945	missense	probably benign	0.11
R2165:Pde8a	UTSW	7	81295768	critical splice donor site	probably null
R2385:Pde8a	UTSW	7	81282992	missense	probably benign	0.45
R2518:Pde8a	UTSW	7	81317422	missense	probably benign	0.00
R4001:Pde8a	UTSW	7	81317356	missense	probably damaging	1.00
R4114:Pde8a	UTSW	7	81282807	splice site	probably null
R4115:Pde8a	UTSW	7	81282807	splice site	probably null
R4159:Pde8a	UTSW	7	81320659	missense	probably benign	0.13
R4299:Pde8a	UTSW	7	81328035	missense	probably benign
R4544:Pde8a	UTSW	7	81328099	missense	probably damaging	0.98
R4545:Pde8a	UTSW	7	81328099	missense	probably damaging	0.98
R4562:Pde8a	UTSW	7	81308820	nonsense	probably null
R4563:Pde8a	UTSW	7	81308820	nonsense	probably null
R4615:Pde8a	UTSW	7	81320737	missense	probably damaging	1.00
R4808:Pde8a	UTSW	7	81282931	missense	probably benign
R5396:Pde8a	UTSW	7	81333422	missense	probably damaging	1.00
R5840:Pde8a	UTSW	7	81213965	missense	probably benign
R5892:Pde8a	UTSW	7	81295691	missense	probably damaging	0.99
R6621:Pde8a	UTSW	7	81293130	critical splice acceptor site	probably null
R7067:Pde8a	UTSW	7	81317326	missense	probably benign	0.41
R7163:Pde8a	UTSW	7	81306708	missense	possibly damaging	0.62
R7483:Pde8a	UTSW	7	81282833	missense	probably benign	0.02
R7606:Pde8a	UTSW	7	81332967	missense	probably damaging	0.98
R7876:Pde8a	UTSW	7	81324071	missense	probably damaging	1.00
R8046:Pde8a	UTSW	7	81308839	missense	possibly damaging	0.90
R8046:Pde8a	UTSW	7	81317370	missense	probably benign	0.14
R8832:Pde8a	UTSW	7	81306750	missense	probably benign	0.16
R9133:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9134:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9166:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9169:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9170:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9341:Pde8a	UTSW	7	81300679	missense	probably benign	0.01
R9343:Pde8a	UTSW	7	81300679	missense	probably benign	0.01
R9354:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9378:Pde8a	UTSW	7	81332871	missense	probably damaging	1.00
R9672:Pde8a	UTSW	7	81292266	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCCAAGGACATAAAGTGG -3'
(R):5'- GGGCCTCATACCTGTTTGACTG -3'

Sequencing Primer
(F):5'- TCCCCAAGGACATAAAGTGGTATCTG -3'
(R):5'- GTCAGTCTGAACACACTCAGTTGTG -3'

Posted On

2015-09-24