Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Pde5a'

201422

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

Pde5, PDE5A1

MMRRC Submission

038681-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R0481 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122522822-122653023 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 122611726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066728] [ENSMUST00000200389]

AlphaFold

Q8CG03

Predicted Effect

probably benign
Transcript: ENSMUST00000066728

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965

Domain	Start	End	E-Value	Type
Blast:GAF	64	152	4e-42	BLAST
GAF	154	314	2.23e-31	SMART
GAF	336	503	9.8e-28	SMART
HDc	600	768	8.11e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200389

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965

Domain	Start	End	E-Value	Type
Blast:GAF	32	120	3e-42	BLAST
GAF	122	282	1.1e-33	SMART
GAF	304	471	4.7e-30	SMART
HDc	568	736	4.4e-11	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,666 (GRCm39)	N39Y	probably benign	Het
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bicd1	A	T	6: 149,413,389 (GRCm39)	D260V	possibly damaging	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Furin	A	G	7: 80,043,297 (GRCm39)	C305R	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Gjb3	T	A	4: 127,220,125 (GRCm39)	I136F	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,214,175 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	probably benign	Het

Other mutations in Pde5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Pde5a	APN	3	122,588,006 (GRCm39)	missense	probably damaging	1.00
IGL00945:Pde5a	APN	3	122,629,291 (GRCm39)	critical splice donor site	probably null
IGL01395:Pde5a	APN	3	122,611,604 (GRCm39)	missense	probably benign	0.40
IGL01872:Pde5a	APN	3	122,588,018 (GRCm39)	critical splice donor site	probably null
IGL01947:Pde5a	APN	3	122,629,259 (GRCm39)	missense	probably damaging	1.00
IGL02033:Pde5a	APN	3	122,596,710 (GRCm39)	missense	possibly damaging	0.51
IGL02209:Pde5a	APN	3	122,618,664 (GRCm39)	splice site	probably benign
IGL02220:Pde5a	APN	3	122,542,031 (GRCm39)	missense	probably benign	0.05
IGL02301:Pde5a	APN	3	122,554,534 (GRCm39)	missense	probably damaging	1.00
IGL02748:Pde5a	APN	3	122,554,541 (GRCm39)	missense	probably damaging	0.99
R0009:Pde5a	UTSW	3	122,618,551 (GRCm39)	splice site	probably benign
R0031:Pde5a	UTSW	3	122,596,704 (GRCm39)	missense	probably benign	0.00
R0119:Pde5a	UTSW	3	122,542,107 (GRCm39)	missense	probably damaging	1.00
R0390:Pde5a	UTSW	3	122,629,232 (GRCm39)	missense	probably damaging	1.00
R0499:Pde5a	UTSW	3	122,542,107 (GRCm39)	missense	probably damaging	1.00
R0657:Pde5a	UTSW	3	122,542,107 (GRCm39)	missense	probably damaging	1.00
R0845:Pde5a	UTSW	3	122,522,980 (GRCm39)	missense	probably benign	0.28
R0908:Pde5a	UTSW	3	122,572,650 (GRCm39)	missense	probably benign	0.01
R1147:Pde5a	UTSW	3	122,587,962 (GRCm39)	missense	probably damaging	1.00
R1147:Pde5a	UTSW	3	122,587,962 (GRCm39)	missense	probably damaging	1.00
R1553:Pde5a	UTSW	3	122,572,585 (GRCm39)	missense	probably benign	0.14
R1728:Pde5a	UTSW	3	122,541,889 (GRCm39)	missense	probably damaging	1.00
R1744:Pde5a	UTSW	3	122,541,546 (GRCm39)	missense	probably damaging	0.97
R1774:Pde5a	UTSW	3	122,523,013 (GRCm39)	missense	probably benign	0.01
R1784:Pde5a	UTSW	3	122,541,889 (GRCm39)	missense	probably damaging	1.00
R2437:Pde5a	UTSW	3	122,636,702 (GRCm39)	missense	probably damaging	1.00
R2844:Pde5a	UTSW	3	122,645,357 (GRCm39)	missense	probably damaging	1.00
R2897:Pde5a	UTSW	3	122,572,651 (GRCm39)	missense	probably benign	0.03
R2936:Pde5a	UTSW	3	122,587,968 (GRCm39)	missense	probably damaging	0.97
R3160:Pde5a	UTSW	3	122,575,277 (GRCm39)	nonsense	probably null
R3162:Pde5a	UTSW	3	122,575,277 (GRCm39)	nonsense	probably null
R3704:Pde5a	UTSW	3	122,572,668 (GRCm39)	missense	probably benign	0.00
R3847:Pde5a	UTSW	3	122,596,809 (GRCm39)	missense	probably damaging	0.98
R3932:Pde5a	UTSW	3	122,554,545 (GRCm39)	missense	probably damaging	0.98
R4387:Pde5a	UTSW	3	122,523,001 (GRCm39)	missense	probably benign	0.00
R4613:Pde5a	UTSW	3	122,616,742 (GRCm39)	missense	probably damaging	1.00
R4676:Pde5a	UTSW	3	122,541,542 (GRCm39)	missense	possibly damaging	0.67
R5034:Pde5a	UTSW	3	122,646,236 (GRCm39)	missense	probably damaging	1.00
R5034:Pde5a	UTSW	3	122,646,235 (GRCm39)	missense	probably damaging	1.00
R5358:Pde5a	UTSW	3	122,541,825 (GRCm39)	missense	probably damaging	1.00
R5394:Pde5a	UTSW	3	122,611,658 (GRCm39)	missense	probably damaging	1.00
R5502:Pde5a	UTSW	3	122,596,681 (GRCm39)	missense	probably damaging	1.00
R5821:Pde5a	UTSW	3	122,611,604 (GRCm39)	missense	probably benign	0.40
R5932:Pde5a	UTSW	3	122,634,693 (GRCm39)	missense	probably benign	0.01
R6063:Pde5a	UTSW	3	122,618,574 (GRCm39)	missense	probably benign	0.23
R6190:Pde5a	UTSW	3	122,522,956 (GRCm39)	missense	probably benign	0.28
R6815:Pde5a	UTSW	3	122,618,573 (GRCm39)	missense	probably benign	0.01
R6940:Pde5a	UTSW	3	122,572,681 (GRCm39)	missense	possibly damaging	0.53
R7274:Pde5a	UTSW	3	122,648,895 (GRCm39)	nonsense	probably null
R7337:Pde5a	UTSW	3	122,542,107 (GRCm39)	missense	probably damaging	1.00
R7384:Pde5a	UTSW	3	122,618,649 (GRCm39)	missense	probably damaging	1.00
R7480:Pde5a	UTSW	3	122,596,797 (GRCm39)	missense	possibly damaging	0.50
R7508:Pde5a	UTSW	3	122,611,679 (GRCm39)	missense	probably damaging	1.00
R7522:Pde5a	UTSW	3	122,634,648 (GRCm39)	nonsense	probably null
R7623:Pde5a	UTSW	3	122,568,250 (GRCm39)	missense	probably benign
R8153:Pde5a	UTSW	3	122,646,227 (GRCm39)	missense	probably damaging	1.00
R8153:Pde5a	UTSW	3	122,646,225 (GRCm39)	missense	probably benign	0.30
R8351:Pde5a	UTSW	3	122,542,128 (GRCm39)	critical splice donor site	probably null
R8927:Pde5a	UTSW	3	122,633,249 (GRCm39)	missense	probably damaging	1.00
R8928:Pde5a	UTSW	3	122,633,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGGAGAACAAACCTTTAACAGAAG -3'
(R):5'- TCGCTTTAAGTAAGATCCTCCTGCATTC -3'

Sequencing Primer
(F):5'- GATCTTCTGCTTCCCTATAGAAAAG -3'
(R):5'- CAAAATGGTGCTTGATACATGGC -3'

Posted On

2014-06-10