Mutagenetix > Incidental Mutation

Incidental Mutation 'R0908:Pde5a'

83384

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

Pde5, PDE5A1

MMRRC Submission

039066-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R0908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122522822-122653023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122572650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 344 (I344L)

Ref Sequence

ENSEMBL: ENSMUSP00000069011 (fasta)

Gene Model

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

AlphaFold

Q8CG03

PDB Structure

Solution Structure of cGMP-binding GAF domain of Phosphodiesterase 5 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000066728
AA Change: I344L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: I344L

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

noncoding transcript
Transcript: ENSMUST00000196290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198314

Predicted Effect

probably benign
Transcript: ENSMUST00000200389
AA Change: I312L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: I312L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200530

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,775,838 (GRCm39)	F1676I	probably damaging	Het
Afg2a	T	A	3: 37,485,772 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atp8b3	T	C	10: 80,355,918 (GRCm39)	T1265A	probably benign	Het
Cep112	T	C	11: 108,555,323 (GRCm39)	V679A	possibly damaging	Het
Cts8	A	T	13: 61,398,730 (GRCm39)	Y259N	probably damaging	Het
Depdc7	A	G	2: 104,558,437 (GRCm39)	S195P	probably benign	Het
Dio2	A	T	12: 90,696,422 (GRCm39)	C189S	probably damaging	Het
Dmc1	A	G	15: 79,469,890 (GRCm39)	L189P	probably damaging	Het
Ehmt1	A	G	2: 24,694,900 (GRCm39)	Y1016H	probably damaging	Het
Gle1	T	C	2: 29,826,133 (GRCm39)	S71P	probably benign	Het
Gykl1	T	A	18: 52,828,441 (GRCm39)	*550K	probably null	Het
Klhl32	T	C	4: 24,682,092 (GRCm39)	D197G	probably damaging	Het
Krt78	G	A	15: 101,859,336 (GRCm39)	T287M	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mrpl1	A	T	5: 96,409,942 (GRCm39)	I272L	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Or52e19	T	C	7: 102,959,780 (GRCm39)	V284A	possibly damaging	Het
Or8g23	T	C	9: 38,971,243 (GRCm39)	T240A	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prl7c1	A	G	13: 27,957,717 (GRCm39)	I241T	possibly damaging	Het
Rp1	T	C	1: 4,414,878 (GRCm39)	E2078G	probably benign	Het
Scamp3	T	C	3: 89,086,746 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,428,697 (GRCm39)	H414R	probably benign	Het
Spef2	T	A	15: 9,614,281 (GRCm39)		probably null	Het
Txlnb	A	G	10: 17,674,925 (GRCm39)	N26S	probably damaging	Het
Vmn1r11	G	T	6: 57,115,049 (GRCm39)	V201L	probably damaging	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
R0481:Pde5a	UTSW	3	122,611,726 (GRCm39)	splice site	probably benign
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
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'- GCGTAAACGTGCTCACCAACAG -3'
(R):5'- TGCACAGTGCTATACAGGGTGTTTC -3'

Sequencing Primer
(F):5'- GTGCTCACCAACAGCCTTTAG -3'
(R):5'- CACCGAAGGCTCTTGCTAC -3'

Posted On

2013-11-08