Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Pde8a'

169362

Institutional Source

Beutler Lab

Gene Symbol

Pde8a

Ensembl Gene

ENSMUSG00000025584

Gene Name

phosphodiesterase 8A

Synonyms

Pde8

MMRRC Submission

039552-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80863344-80984281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80942007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 149 (S149P)

Ref Sequence

ENSEMBL: ENSMUSP00000026672 (fasta)

Gene Model

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

AlphaFold

O88502

Predicted Effect

probably damaging
Transcript: ENSMUST00000026672
AA Change: S149P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: S149P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGAAGCTTGCACTTCCTTCCAG -3'
(R):5'- TGCCACAGAGTAATGAAAGCCAGAC -3'

Sequencing Primer
(F):5'- GCCCCTTTCTAGTAAGTACAGTGTAG -3'
(R):5'- TAATGAAAGCCAGACTTCAAAGG -3'

Posted On

2014-04-13