Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Pde9a'

641103

Institutional Source

Beutler Lab

Gene Symbol

Pde9a

Ensembl Gene

ENSMUSG00000041119

Gene Name

phosphodiesterase 9A

Synonyms

PDE9A1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31386234-31476310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31473212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 520 (K520E)

Ref Sequence

ENSEMBL: ENSMUSP00000038005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000137927] [ENSMUST00000143549]

AlphaFold

O70628

Predicted Effect

probably benign
Transcript: ENSMUST00000047168
AA Change: K520E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: K520E

Domain	Start	End	E-Value	Type
HDc	248	415	7.12e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124902

SMART Domains

Protein: ENSMUSP00000118869
Gene: ENSMUSG00000041119

Domain	Start	End	E-Value	Type
PDB:3QI4\|B	1	77	3e-47	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000127929
AA Change: K520E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: K520E

Domain	Start	End	E-Value	Type
HDc	248	415	7.12e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131417

SMART Domains

Protein: ENSMUSP00000115188
Gene: ENSMUSG00000041119

Domain	Start	End	E-Value	Type
PDB:3QI4\|B	1	23	7e-9	PDB
low complexity region	32	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134525
AA Change: K494E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: K494E

Domain	Start	End	E-Value	Type
HDc	222	389	7.12e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137927

Predicted Effect

probably benign
Transcript: ENSMUST00000143549

SMART Domains

Protein: ENSMUSP00000117911
Gene: ENSMUSG00000041119

Domain	Start	End	E-Value	Type
PDB:3QI4\|B	1	23	5e-9	PDB
low complexity region	32	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154392
AA Change: K165E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119
AA Change: K165E

Domain	Start	End	E-Value	Type
Pfam:PDEase_I	1	73	2.2e-20	PFAM
Pfam:PDEase_I	63	126	9.7e-15	PFAM
coiled coil region	128	158	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit suppressed pressure-overload-induced cardiac pathobiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,411,368	V158F	probably damaging	Het
Adam1b	T	C	5: 121,503,149		probably benign	Het
Ambn	G	A	5: 88,459,422	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,965,952	D14G	probably benign	Het
Asphd1	C	T	7: 126,948,612	R173H	probably damaging	Het
Atr	A	T	9: 95,920,370	T1772S		Het
Best3	T	C	10: 117,002,610	L191P	probably damaging	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Borcs6	T	C	11: 69,059,820	L8P	probably benign	Het
Brca1	T	G	11: 101,525,637	Q557P	probably damaging	Het
Brca2	G	A	5: 150,536,663	E468K	possibly damaging	Het
Btbd11	T	A	10: 85,598,545	C22*	probably null	Het
Capza2	T	A	6: 17,637,132	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,815,784	Y918*	probably null	Het
Ccdc163	T	C	4: 116,710,275	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,536,590	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,722,680	D519E	probably benign	Het
Cd300ld2	T	C	11: 115,013,822	Q73R	probably benign	Het
Cfap46	T	A	7: 139,656,580	D608V		Het
Cfap69	T	G	5: 5,604,287	Y549S	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clu	A	C	14: 65,979,762	Q348P	probably damaging	Het
Cnot1	A	T	8: 95,747,021	N1153K	probably benign	Het
Col2a1	T	C	15: 97,990,968		probably null	Het
Col6a6	A	T	9: 105,784,073	I279N	probably damaging	Het
Dopey1	A	G	9: 86,520,206	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,412,173	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,457,175	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,358,788	I972V	probably damaging	Het
Fam13c	C	T	10: 70,553,153	T503I	probably benign	Het
Fbxo43	T	A	15: 36,161,867	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,158,632	I57T	probably benign	Het
Flnc	T	C	6: 29,449,370	I1422T	probably benign	Het
Flrt2	T	C	12: 95,779,302	L138P	probably damaging	Het
Frem3	A	G	8: 80,612,211	K378E	possibly damaging	Het
Ganc	T	A	2: 120,422,079	D128E	probably benign	Het
Gm19965	T	C	1: 116,821,785	S399P		Het
H2-Q1	A	T	17: 35,321,021	K89*	probably null	Het
H2-Q2	A	T	17: 35,342,325		probably benign	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Homer2	T	A	7: 81,624,266	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,408,714	K231R	probably benign	Het
Kif17	A	C	4: 138,277,909	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,628,391	S279N	probably benign	Het
Lrp12	T	C	15: 39,878,054	N441D	probably damaging	Het
Lta4h	G	T	10: 93,482,264	L515F	possibly damaging	Het
Mavs	T	C	2: 131,246,550	S425P	probably benign	Het
Mcat	A	C	15: 83,555,391	D99E	probably damaging	Het
Nav2	C	A	7: 49,546,017	T1047K	probably benign	Het
Neb	T	A	2: 52,209,645	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,383,757	R283P	probably null	Het
Notch3	G	A	17: 32,158,112	T273I	probably damaging	Het
Olfr1205	G	A	2: 88,831,289	M57I	possibly damaging	Het
Olfr1415	T	G	1: 92,491,525	I77L	possibly damaging	Het
Olfr152	A	T	2: 87,783,486	*317C	probably null	Het
Olfr5	T	A	7: 6,480,869	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,022,585	T786S	probably benign	Het
Piezo2	A	C	18: 63,075,730	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,950,496	S1321G	probably benign	Het
Rtkn	T	C	6: 83,151,916	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,265,321	F193S	probably damaging	Het
Samd4	G	A	14: 46,884,917	V33I	probably damaging	Het
Scn5a	A	G	9: 119,521,291	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,473,669	V507L	probably benign	Het
Stradb	C	A	1: 58,991,197	N203K	unknown	Het
Tenm2	T	C	11: 36,069,369	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037	W860G	probably damaging	Het
Tpst2	G	A	5: 112,307,937	R114H	probably damaging	Het
Trappc10	C	T	10: 78,200,626	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,453,967	I265L	probably benign	Het
Zbtb20	A	C	16: 43,618,737	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,777,483	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,304,075	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,122,562	H712L	probably damaging	Het

Other mutations in Pde9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Pde9a	APN	17	31443172	missense	probably benign	0.03
IGL01372:Pde9a	APN	17	31461711	missense	probably benign	0.24
IGL01599:Pde9a	APN	17	31414150	missense	probably damaging	1.00
IGL02108:Pde9a	APN	17	31461693	missense	probably benign
IGL02113:Pde9a	APN	17	31459970	missense	probably benign	0.24
IGL02132:Pde9a	APN	17	31453470	missense	probably benign	0.15
IGL02320:Pde9a	APN	17	31459085	missense	probably damaging	1.00
IGL02371:Pde9a	APN	17	31420285	missense	possibly damaging	0.92
IGL03128:Pde9a	APN	17	31459910	missense	possibly damaging	0.74
R0015:Pde9a	UTSW	17	31386356	splice site	probably null
R0281:Pde9a	UTSW	17	31455106	missense	probably damaging	0.98
R0584:Pde9a	UTSW	17	31459977	missense	probably damaging	1.00
R1464:Pde9a	UTSW	17	31473162	missense	probably benign	0.06
R1464:Pde9a	UTSW	17	31473162	missense	probably benign	0.06
R1853:Pde9a	UTSW	17	31455120	missense	probably damaging	1.00
R1855:Pde9a	UTSW	17	31455120	missense	probably damaging	1.00
R2134:Pde9a	UTSW	17	31386310	missense	probably damaging	1.00
R3732:Pde9a	UTSW	17	31448427	missense	possibly damaging	0.60
R4066:Pde9a	UTSW	17	31443838	makesense	probably null
R4841:Pde9a	UTSW	17	31443161	splice site	probably null
R4842:Pde9a	UTSW	17	31443161	splice site	probably null
R4978:Pde9a	UTSW	17	31473223	missense	probably benign	0.01
R6826:Pde9a	UTSW	17	31466440	missense	probably benign	0.02
R6860:Pde9a	UTSW	17	31470724	missense	probably damaging	1.00
R6912:Pde9a	UTSW	17	31466412	missense	possibly damaging	0.95
R6963:Pde9a	UTSW	17	31443887	missense	probably benign	0.00
R6965:Pde9a	UTSW	17	31443887	missense	probably benign	0.00
R7188:Pde9a	UTSW	17	31459097	missense	probably damaging	0.96
R7208:Pde9a	UTSW	17	31420284	missense	possibly damaging	0.46
R7429:Pde9a	UTSW	17	31470706	missense	probably damaging	1.00
R7819:Pde9a	UTSW	17	31460200	missense	possibly damaging	0.67
R7896:Pde9a	UTSW	17	31459967	nonsense	probably null
R9260:Pde9a	UTSW	17	31459163	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCATCCCATCAGCCATTG -3'
(R):5'- AATCTCCACTGTGAGGTTAAAGG -3'

Sequencing Primer
(F):5'- CATTGCTCTGAGAGGACCTGAGTC -3'
(R):5'- GGATATCCCATGACTCAGTTTCTGG -3'

Posted On

2020-07-28