Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02132:Pde9a'

281035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde9a

Ensembl Gene

ENSMUSG00000041119

Gene Name

phosphodiesterase 9A

Synonyms

PDE9A1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

31386234-31476310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31453470 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 34 (T34I)

Ref Sequence

ENSEMBL: ENSMUSP00000116724 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047168
AA Change: T181I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: T181I

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: T181I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: T181I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130547

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: T155I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: T155I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136384
AA Change: T34I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119
AA Change: T34I

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

noncoding transcript
Transcript: ENSMUST00000154567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155395

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Dcstamp	A	T	15: 39,754,532	E112D	probably damaging	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Gen1	A	G	12: 11,241,866	S706P	probably benign	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Psd2	T	G	18: 36,004,756		probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Trps1	T	A	15: 50,822,278	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,330,347	S1027P	probably benign	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	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
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
R7979:Pde9a	UTSW	17	31459967	nonsense	probably null

Posted On

2015-04-16