Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Pde9a'

37574

Institutional Source

Beutler Lab

Gene Symbol

Pde9a

Ensembl Gene

ENSMUSG00000041119

Gene Name

phosphodiesterase 9A

Synonyms

PDE9A1

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R0281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31605184-31695284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31674080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 55 (V55A)

Ref Sequence

ENSEMBL: ENSMUSP00000116724 (fasta)

Gene Model

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

AlphaFold

O70628

Predicted Effect

probably benign
Transcript: ENSMUST00000047168
AA Change: V202A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: V202A

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: V202A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: V202A

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: V176A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: V176A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136384
AA Change: V55A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119
AA Change: V55A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154567

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: 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

Meta Mutation Damage Score

0.1166

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,464,304 (GRCm39)	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,919,407 (GRCm39)	R76*	probably null	Het
A1cf	G	A	19: 31,923,214 (GRCm39)	A505T	probably benign	Het
Abcc5	T	A	16: 20,241,150 (GRCm39)	I12F	probably damaging	Het
Abcf2	T	C	5: 24,771,562 (GRCm39)	E555G	probably damaging	Het
Acan	A	T	7: 78,750,033 (GRCm39)	E1601D	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam2	T	A	14: 66,275,055 (GRCm39)	K559N	probably benign	Het
Akap11	A	C	14: 78,747,529 (GRCm39)	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 123,622,307 (GRCm39)	D515G	probably benign	Het
Ankrd27	T	A	7: 35,318,796 (GRCm39)	N562K	probably damaging	Het
Atp10b	T	C	11: 43,044,131 (GRCm39)	I119T	probably benign	Het
Atr	T	C	9: 95,819,619 (GRCm39)	I2202T	probably benign	Het
Bltp2	C	T	11: 78,162,750 (GRCm39)	L871F	possibly damaging	Het
Brd4	T	A	17: 32,432,514 (GRCm39)		probably benign	Het
Catsperg2	C	T	7: 29,405,996 (GRCm39)	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,961,553 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,966,230 (GRCm39)	I366F	probably damaging	Het
Cnga4	G	T	7: 105,056,875 (GRCm39)	R326L	probably damaging	Het
Cntnap5b	T	A	1: 99,999,878 (GRCm39)	M212K	probably benign	Het
Col6a6	T	A	9: 105,661,315 (GRCm39)	M265L	probably benign	Het
Cspg4b	A	T	13: 113,505,677 (GRCm39)	I727F	probably damaging	Het
Cyp26b1	A	T	6: 84,551,538 (GRCm39)	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,308,088 (GRCm39)	M768K	probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Duox2	C	T	2: 122,122,785 (GRCm39)	V550M	probably benign	Het
Elmo2	A	G	2: 165,138,810 (GRCm39)	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,208,356 (GRCm39)	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977 (GRCm38)	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Gm12253	T	C	11: 58,330,838 (GRCm39)		probably benign	Het
Gnat2	T	A	3: 108,002,878 (GRCm39)	Y95*	probably null	Het
Gopc	T	C	10: 52,226,774 (GRCm39)	K220E	probably damaging	Het
Hectd4	G	A	5: 121,392,314 (GRCm39)	D193N	possibly damaging	Het
Hexa	G	A	9: 59,461,509 (GRCm39)		probably null	Het
Hspa4l	T	C	3: 40,739,840 (GRCm39)		probably benign	Het
Hspa5	T	C	2: 34,664,332 (GRCm39)	S301P	probably damaging	Het
Ice1	A	T	13: 70,752,166 (GRCm39)	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,096,880 (GRCm39)	L17P	probably damaging	Het
Itk	T	C	11: 46,244,743 (GRCm39)	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,830,088 (GRCm39)	V560A	probably damaging	Het
Lama1	A	G	17: 68,124,564 (GRCm39)	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,697,677 (GRCm39)	C32*	probably null	Het
Lcp2	T	A	11: 34,019,854 (GRCm39)		probably benign	Het
Lhx9	C	T	1: 138,760,642 (GRCm39)	G236D	probably benign	Het
Lrrc38	A	T	4: 143,076,979 (GRCm39)	I81F	probably damaging	Het
Ly6a	C	T	15: 74,867,236 (GRCm39)	V94M	probably benign	Het
Map3k13	A	G	16: 21,732,907 (GRCm39)	E503G	probably damaging	Het
Mertk	T	C	2: 128,624,541 (GRCm39)		probably benign	Het
Mrtfb	T	A	16: 13,230,027 (GRCm39)	I915N	probably damaging	Het
Msantd2	G	A	9: 37,434,515 (GRCm39)	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,792 (GRCm39)	L290*	probably null	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Naglu	T	A	11: 100,964,853 (GRCm39)	N313K	probably damaging	Het
Nceh1	T	C	3: 27,276,953 (GRCm39)	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,135,083 (GRCm39)	T47A	probably damaging	Het
Nrp1	T	A	8: 129,187,164 (GRCm39)	F403L	probably damaging	Het
Nxph3	T	C	11: 95,402,082 (GRCm39)	T111A	possibly damaging	Het
Obscn	T	A	11: 58,929,441 (GRCm39)	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,469,571 (GRCm39)	G1149W	probably damaging	Het
Or14c39	A	G	7: 86,344,068 (GRCm39)	T135A	probably benign	Het
Or2k2	A	T	4: 58,784,981 (GRCm39)	V247E	probably damaging	Het
Or2p2	T	A	13: 21,256,544 (GRCm39)	Y309F	probably benign	Het
Or5b123	A	G	19: 13,596,849 (GRCm39)	T65A	probably benign	Het
Or5d14	C	T	2: 87,880,756 (GRCm39)	V71I	possibly damaging	Het
Or5p68	A	C	7: 107,946,121 (GRCm39)	D22E	probably benign	Het
Or6c70	T	A	10: 129,710,415 (GRCm39)	L70F	possibly damaging	Het
Pip4k2c	A	T	10: 127,041,690 (GRCm39)		probably null	Het
Plvap	T	C	8: 71,964,026 (GRCm39)	N112S	probably damaging	Het
Pop1	T	A	15: 34,530,004 (GRCm39)		probably null	Het
Ppip5k2	T	C	1: 97,644,278 (GRCm39)	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,449,388 (GRCm39)	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,507,043 (GRCm39)	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,812,670 (GRCm39)	T565A	probably benign	Het
Rbm15	C	A	3: 107,238,471 (GRCm39)	R642S	probably damaging	Het
Rpsa	G	A	9: 119,960,069 (GRCm39)	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,517,155 (GRCm39)	S3303P	probably damaging	Het
Scg2	T	A	1: 79,413,229 (GRCm39)	N458I	possibly damaging	Het
Setx	A	G	2: 29,069,655 (GRCm39)	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,244,549 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,874,914 (GRCm39)	D387E	probably benign	Het
Smarcc2	A	G	10: 128,310,591 (GRCm39)	T407A	probably benign	Het
Snap25	A	G	2: 136,619,384 (GRCm39)	D179G	probably damaging	Het
Socs4	T	C	14: 47,527,325 (GRCm39)	S74P	probably benign	Het
Sp6	T	A	11: 96,912,751 (GRCm39)	Y155N	probably benign	Het
Srrt	C	T	5: 137,294,389 (GRCm39)		probably benign	Het
Steap1	C	T	5: 5,786,431 (GRCm39)	M335I	probably benign	Het
Stra6	A	T	9: 58,052,772 (GRCm39)	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582 (GRCm39)	S1421P	probably damaging	Het
Tcea3	G	A	4: 135,998,677 (GRCm39)	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,870,757 (GRCm39)	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,100,718 (GRCm39)	K89E	probably damaging	Het
Trp63	T	A	16: 25,583,052 (GRCm39)		probably benign	Het
Ube2d2a	A	G	18: 35,933,185 (GRCm39)	Y74C	probably damaging	Het
Usp19	T	G	9: 108,375,708 (GRCm39)	F885V	probably damaging	Het
Utp18	T	A	11: 93,773,003 (GRCm39)		probably benign	Het
Vmn2r116	T	C	17: 23,620,387 (GRCm39)	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Zfp318	C	T	17: 46,723,540 (GRCm39)	P1848S	probably benign	Het
Zfp984	G	T	4: 147,839,722 (GRCm39)	N376K	probably benign	Het

Other mutations in Pde9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Pde9a	APN	17	31,662,146 (GRCm39)	missense	probably benign	0.03
IGL01372:Pde9a	APN	17	31,680,685 (GRCm39)	missense	probably benign	0.24
IGL01599:Pde9a	APN	17	31,633,124 (GRCm39)	missense	probably damaging	1.00
IGL02108:Pde9a	APN	17	31,680,667 (GRCm39)	missense	probably benign
IGL02113:Pde9a	APN	17	31,678,944 (GRCm39)	missense	probably benign	0.24
IGL02132:Pde9a	APN	17	31,672,444 (GRCm39)	missense	probably benign	0.15
IGL02320:Pde9a	APN	17	31,678,059 (GRCm39)	missense	probably damaging	1.00
IGL02371:Pde9a	APN	17	31,639,259 (GRCm39)	missense	possibly damaging	0.92
IGL03128:Pde9a	APN	17	31,678,884 (GRCm39)	missense	possibly damaging	0.74
R0015:Pde9a	UTSW	17	31,605,330 (GRCm39)	splice site	probably null
R0584:Pde9a	UTSW	17	31,678,951 (GRCm39)	missense	probably damaging	1.00
R1464:Pde9a	UTSW	17	31,692,136 (GRCm39)	missense	probably benign	0.06
R1464:Pde9a	UTSW	17	31,692,136 (GRCm39)	missense	probably benign	0.06
R1853:Pde9a	UTSW	17	31,674,094 (GRCm39)	missense	probably damaging	1.00
R1855:Pde9a	UTSW	17	31,674,094 (GRCm39)	missense	probably damaging	1.00
R2134:Pde9a	UTSW	17	31,605,284 (GRCm39)	missense	probably damaging	1.00
R3732:Pde9a	UTSW	17	31,667,401 (GRCm39)	missense	possibly damaging	0.60
R4066:Pde9a	UTSW	17	31,662,812 (GRCm39)	makesense	probably null
R4841:Pde9a	UTSW	17	31,662,135 (GRCm39)	splice site	probably null
R4842:Pde9a	UTSW	17	31,662,135 (GRCm39)	splice site	probably null
R4978:Pde9a	UTSW	17	31,692,197 (GRCm39)	missense	probably benign	0.01
R6826:Pde9a	UTSW	17	31,685,414 (GRCm39)	missense	probably benign	0.02
R6860:Pde9a	UTSW	17	31,689,698 (GRCm39)	missense	probably damaging	1.00
R6912:Pde9a	UTSW	17	31,685,386 (GRCm39)	missense	possibly damaging	0.95
R6963:Pde9a	UTSW	17	31,662,861 (GRCm39)	missense	probably benign	0.00
R6965:Pde9a	UTSW	17	31,662,861 (GRCm39)	missense	probably benign	0.00
R7188:Pde9a	UTSW	17	31,678,071 (GRCm39)	missense	probably damaging	0.96
R7208:Pde9a	UTSW	17	31,639,258 (GRCm39)	missense	possibly damaging	0.46
R7429:Pde9a	UTSW	17	31,689,680 (GRCm39)	missense	probably damaging	1.00
R7819:Pde9a	UTSW	17	31,679,174 (GRCm39)	missense	possibly damaging	0.67
R7896:Pde9a	UTSW	17	31,678,941 (GRCm39)	nonsense	probably null
R8306:Pde9a	UTSW	17	31,692,186 (GRCm39)	missense	probably benign
R9260:Pde9a	UTSW	17	31,678,137 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGATGGGAGTCCACTGACAGTC -3'
(R):5'- TCTAAGCAACTGCTATGCTCCTGC -3'

Sequencing Primer
(F):5'- CACTGACAGTCTCCAGAGTAAGG -3'
(R):5'- TCATGCAATCCTGAGCAGCT -3'

Posted On

2013-05-23