Mutagenetix > Incidental Mutation

Incidental Mutation 'R2936:Pde5a'

255017

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

Pde5, PDE5A1

Accession Numbers

Essential gene?

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

Stock #

R2936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122522822-122653023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122587968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 378 (E378G)

Ref Sequence

ENSEMBL: ENSMUSP00000143042 (fasta)

Gene Model

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

AlphaFold

Q8CG03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066728
AA Change: E410G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: E410G

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: ENSMUST00000198715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199253

Predicted Effect

probably damaging
Transcript: ENSMUST00000200389
AA Change: E378G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: E378G

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: 99.2%
3x: 98.6%
10x: 97.3%
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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,519 (GRCm39)	M121K	probably damaging	Het
Cacybp	A	T	1: 160,035,947 (GRCm39)		probably null	Het
Cd6	T	C	19: 10,773,686 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,109,467 (GRCm39)	T379A	probably benign	Het
Gaa	T	C	11: 119,174,550 (GRCm39)	V799A	probably benign	Het
Gm16503	A	G	4: 147,625,704 (GRCm39)	D66G	unknown	Het
Hspa9	T	C	18: 35,081,067 (GRCm39)	T205A	probably damaging	Het
Ihh	A	G	1: 74,985,705 (GRCm39)	I260T	probably damaging	Het
Jcad	T	A	18: 4,675,153 (GRCm39)	Y972N	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,357,819 (GRCm39)	Q341R	probably benign	Het
Nup155	T	C	15: 8,172,533 (GRCm39)	S840P	possibly damaging	Het
Or4l15	A	T	14: 50,197,611 (GRCm39)	V306E	probably benign	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Rad54l	T	C	4: 115,980,076 (GRCm39)		probably benign	Het
Stbd1	C	T	5: 92,751,119 (GRCm39)	P51L	possibly damaging	Het
Tent4a	G	A	13: 69,650,446 (GRCm39)	T621I	possibly damaging	Het
Tnfaip3	A	G	10: 18,887,357 (GRCm39)	F56S	probably damaging	Het
Tnr	A	C	1: 159,715,932 (GRCm39)	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,370,341 (GRCm39)	T31A	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
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
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
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'- TTCTGCACAGTCCAAACGGG -3'
(R):5'- GATCCTTCCCTTTAAACAGCCAG -3'

Sequencing Primer
(F):5'- TGACTGAGCCGTAGTCATCTAAC -3'
(R):5'- CAGCCAGTTTCCAGCCTAG -3'

Posted On

2014-12-29