Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Pde9a'

574590

Institutional Source

Beutler Lab

Gene Symbol

Pde9a

Ensembl Gene

ENSMUSG00000041119

Gene Name

phosphodiesterase 9A

Synonyms

PDE9A1

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7208 (G1)

Quality Score

114.008

Status

Validated

Chromosome

Chromosomal Location

31605184-31695284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31639258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 63 (V63I)

Ref Sequence

ENSEMBL: ENSMUSP00000115188 (fasta)

Gene Model

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

AlphaFold

O70628

Predicted Effect

silent
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

silent
Transcript: ENSMUST00000127929

SMART Domains

Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131417
AA Change: V63I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115188
Gene: ENSMUSG00000041119
AA Change: V63I

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

Predicted Effect

silent
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: ENSMUST00000137927
AA Change: V37I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	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
R0281:Pde9a	UTSW	17	31,674,080 (GRCm39)	missense	probably damaging	0.98
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
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'- AGCATCCGAATGAGAGAACTC -3'
(R):5'- TGAACCCCTGATCATGTTGG -3'

Sequencing Primer
(F):5'- CTCAGTGGCAGAGCATGAGC -3'
(R):5'- ATCATGTTGGGGTGGGAACTCAG -3'

Posted On

2019-09-18