Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Pde9a'

702211

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 #

R9260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31386234-31476310 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31459163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000136384] [ENSMUST00000137927] [ENSMUST00000141314] [ENSMUST00000143549]

AlphaFold

O70628

Predicted Effect

probably null
Transcript: ENSMUST00000047168

SMART Domains

Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119

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

Predicted Effect

probably null
Transcript: ENSMUST00000047168

SMART Domains

Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119

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

SMART Domains

Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119

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

SMART Domains

Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136384

SMART Domains

Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119

Domain	Start	End	E-Value	Type
PDB:3QI4\|B	1	80	2e-50	PDB
SCOP:d1f0ja_	28	80	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137927

Predicted Effect

probably benign
Transcript: ENSMUST00000141314

SMART Domains

Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119

Domain	Start	End	E-Value	Type
PDB:3QI4\|B	1	72	3e-45	PDB

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

SMART Domains

Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,316	H369Q	unknown	Het
Atp1a4	A	G	1: 172,246,792	I298T	probably damaging	Het
Bmper	T	A	9: 23,406,720	L545H	probably benign	Het
Cacnb3	A	G	15: 98,639,557	S39G	probably benign	Het
Casr	T	C	16: 36,509,964	K336R	probably benign	Het
Ccdc141	C	A	2: 77,014,451	G1424V	probably damaging	Het
Cd101	A	T	3: 101,013,283	D437E	probably benign	Het
Chadl	A	G	15: 81,693,857	S524P	probably damaging	Het
Clec4a4	C	T	6: 123,023,936	R203*	probably null	Het
Cntnap4	A	G	8: 112,773,644	I523V	probably benign	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,806,897	S229R	possibly damaging	Het
Dnajc15	A	G	14: 77,844,399	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,314,798	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,719,250	V675A	probably benign	Het
F10	G	A	8: 13,055,638	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,587,525	L206F	probably damaging	Het
Frem2	G	C	3: 53,652,783	S1434R	probably damaging	Het
Gli3	G	T	13: 15,725,090	V1021F	probably damaging	Het
Gm7168	A	T	17: 13,949,226	N285I	probably benign	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc1	T	A	9: 66,418,409	C1388*	probably null	Het
Hfe2	T	A	3: 96,528,263	I279N	probably damaging	Het
Igfn1	T	C	1: 135,979,956	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,335,117	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,260,473	I95F	probably damaging	Het
Il31ra	A	T	13: 112,531,668	S456T	probably damaging	Het
Ints3	T	C	3: 90,401,161	D610G	probably damaging	Het
Iqcg	G	A	16: 33,035,603	Q201*	probably null	Het
Kat14	T	A	2: 144,393,521	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,391,570	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,323,071	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,394,775	T595A	probably benign	Het
Lct	C	T	1: 128,299,967	W1263*	probably null	Het
Lexm	T	C	4: 106,615,437	K84E	probably benign	Het
Micall2	T	A	5: 139,709,698	M905L	unknown	Het
Mobp	A	G	9: 120,168,506	T164A	unknown	Het
Mtrr	T	C	13: 68,580,555	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,851,518	W888R	unknown	Het
Myh7	G	A	14: 54,987,385	A575V	probably damaging	Het
Nbea	A	C	3: 55,983,812	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,143,242		probably null	Het
Nsun4	T	C	4: 116,044,810	Y153C	probably damaging	Het
Nup210	A	G	6: 91,062,803	I690T	probably benign	Het
Oaz1	T	A	10: 80,826,769	S4T	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,926	V222E		Het
Olfr19	A	T	16: 16,673,473	C169*	probably null	Het
Olfr201	T	C	16: 59,269,314	M118V	probably damaging	Het
Olfr266	A	G	3: 106,822,194	S122P	probably damaging	Het
Olfr813	G	A	10: 129,856,589	V24M	probably benign	Het
Optn	C	T	2: 5,040,265	C222Y	probably benign	Het
Osmr	T	A	15: 6,852,552	H37L	probably benign	Het
Pccb	G	T	9: 100,995,590	P287Q	probably benign	Het
Pclo	T	A	5: 14,714,273	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,697,504		probably null	Het
Pdk2	C	A	11: 95,039,434	V59F	probably damaging	Het
Pgm2	T	A	4: 99,969,989	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,276,150		probably benign	Het
Pold4	T	C	19: 4,232,850	F97S	possibly damaging	Het
Ppp5c	C	T	7: 17,006,961	V361I	probably benign	Het
Prrt1	A	G	17: 34,631,146	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,625,576	I84F	probably damaging	Het
Smg7	A	G	1: 152,861,798	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,236,508	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,605,597	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,686,620	G109R	possibly damaging	Het
Thap12	C	T	7: 98,707,073	R56*	probably null	Het
Ttn	T	C	2: 76,815,575	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Uqcrfs1	G	A	13: 30,541,125	A144V	probably damaging	Het
Wdr19	T	A	5: 65,206,446	D67E	possibly damaging	Het
Zkscan3	A	T	13: 21,394,040	W226R	probably damaging	Het
Zmym5	A	C	14: 56,804,184	F154C	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
R8306:Pde9a	UTSW	17	31473212	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGACAGTACATGGGAAC -3'
(R):5'- ATATGCATCCTCCCAGGCAC -3'

Sequencing Primer
(F):5'- CGAGGGGAAACTGGTATACCTCC -3'
(R):5'- CTTCCTTGATACCAACACCC -3'

Posted On

2022-03-25