Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Pde5a'

572925

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

Pde5, PDE5A1

MMRRC Submission

045466-MU

Accession Numbers

Essential gene?

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

Stock #

R7384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122522822-122653023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122618649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 654 (Y654C)

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 damaging
Transcript: ENSMUST00000066728
AA Change: Y654C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: Y654C

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 damaging
Transcript: ENSMUST00000200389
AA Change: Y622C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: Y622C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,507,191 (GRCm39)	I65F	possibly damaging	Het
Abca13	C	A	11: 9,283,257 (GRCm39)	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,327,340 (GRCm39)	I41V	probably benign	Het
Acot2	T	C	12: 84,039,441 (GRCm39)	S317P	probably benign	Het
Acp7	T	C	7: 28,314,513 (GRCm39)	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,696,714 (GRCm39)	F148L	probably benign	Het
Adcy10	C	T	1: 165,404,177 (GRCm39)	P1611S	unknown	Het
Agr2	A	G	12: 36,045,923 (GRCm39)	T57A	probably damaging	Het
Ankar	T	G	1: 72,697,624 (GRCm39)	I1060L	probably benign	Het
Ano10	T	A	9: 122,005,409 (GRCm39)	D77V	unknown	Het
Anxa2r1	T	A	13: 120,496,797 (GRCm39)	Q24L	possibly damaging	Het
Apc2	G	A	10: 80,148,458 (GRCm39)	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,152,772 (GRCm39)	R19Q	not run	Het
Arhgap33	A	G	7: 30,226,696 (GRCm39)	S504P	probably damaging	Het
Atg2a	T	C	19: 6,311,707 (GRCm39)	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,512,331 (GRCm39)	S511G	probably benign	Het
Bcl10	A	G	3: 145,638,795 (GRCm39)	K146E	possibly damaging	Het
Bsg	A	T	10: 79,545,631 (GRCm39)	D181V	probably damaging	Het
Btg4	T	C	9: 51,030,413 (GRCm39)	V171A	probably benign	Het
Cdh8	A	C	8: 99,957,138 (GRCm39)	N188K	probably benign	Het
Cflar	C	A	1: 58,791,735 (GRCm39)	T346K		Het
Chrna5	T	C	9: 54,912,117 (GRCm39)	S306P	probably damaging	Het
Cldn20	G	A	17: 3,582,886 (GRCm39)	G20R	probably damaging	Het
Clns1a	G	A	7: 97,345,988 (GRCm39)	A18T	probably benign	Het
D130043K22Rik	A	G	13: 25,066,588 (GRCm39)	Y795C	probably damaging	Het
Dync1li2	A	C	8: 105,169,175 (GRCm39)	S38A	probably benign	Het
Dysf	A	G	6: 84,091,087 (GRCm39)	E1043G	probably benign	Het
Elapor1	A	T	3: 108,370,784 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,964,927 (GRCm39)	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,320,275 (GRCm39)	P729S	probably benign	Het
Eya1	T	A	1: 14,299,736 (GRCm39)	Y339F	probably damaging	Het
Faah	G	T	4: 115,862,364 (GRCm39)	N206K	probably damaging	Het
Fem1a	A	G	17: 56,564,537 (GRCm39)	E210G	probably benign	Het
Gcc2	T	A	10: 58,105,786 (GRCm39)	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,701,817 (GRCm39)	I123F	possibly damaging	Het
Gm3047	T	A	14: 4,558,271 (GRCm38)	N164K	probably damaging	Het
Gm3327	A	G	14: 44,362,334 (GRCm39)	K78E		Het
Herpud1	A	G	8: 95,116,005 (GRCm39)	I57V	probably damaging	Het
Homer1	A	T	13: 93,529,547 (GRCm39)	R285S	possibly damaging	Het
Hps6	T	A	19: 45,992,456 (GRCm39)	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,321,421 (GRCm39)	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,330,551 (GRCm39)	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,469,681 (GRCm39)	F97L	probably damaging	Het
Klf11	C	T	12: 24,703,742 (GRCm39)	T76I	probably damaging	Het
Ldlr	A	C	9: 21,651,090 (GRCm39)	T503P	probably benign	Het
Mapk3	G	C	7: 126,363,463 (GRCm39)	R279P		Het
Mb21d2	A	T	16: 28,647,664 (GRCm39)	D103E	probably benign	Het
Msh4	T	A	3: 153,594,385 (GRCm39)	M333L	probably benign	Het
Mycbp2	A	G	14: 103,513,829 (GRCm39)	I836T	probably damaging	Het
Myh1	A	T	11: 67,115,201 (GRCm39)	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,150,364 (GRCm39)	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,148,963 (GRCm39)	R190Q	not run	Het
Nop53	T	C	7: 15,673,420 (GRCm39)	T344A	probably damaging	Het
Or2r3	A	T	6: 42,448,257 (GRCm39)	L285Q	possibly damaging	Het
Or5an11	T	C	19: 12,246,440 (GRCm39)	V282A	possibly damaging	Het
Or7h8	A	G	9: 20,124,041 (GRCm39)	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,831,461 (GRCm39)	V266G	probably damaging	Het
Polq	T	C	16: 36,849,780 (GRCm39)	S345P	probably damaging	Het
Polr1f	G	T	12: 33,483,631 (GRCm39)	G128W	probably damaging	Het
Prdm1	A	T	10: 44,334,503 (GRCm39)	C8S	probably benign	Het
Psg17	T	A	7: 18,552,585 (GRCm39)	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,325,312 (GRCm39)	S332T	possibly damaging	Het
Rac2	T	A	15: 78,446,131 (GRCm39)	K186*	probably null	Het
S100pbp	T	C	4: 129,075,702 (GRCm39)	N208D	probably benign	Het
Scaf11	A	T	15: 96,318,268 (GRCm39)	V432D	possibly damaging	Het
Skic3	A	C	13: 76,298,854 (GRCm39)	S1187R	possibly damaging	Het
Slc34a1	G	T	13: 55,550,747 (GRCm39)	C225F	probably benign	Het
Slc35e2	A	T	4: 155,695,089 (GRCm39)	M152L	probably benign	Het
Slc49a3	A	T	5: 108,593,926 (GRCm39)	I61K	probably damaging	Het
Slc9a4	T	A	1: 40,651,411 (GRCm39)	I563K	probably benign	Het
Sppl3	T	G	5: 115,199,700 (GRCm39)		probably null	Het
Stam	T	C	2: 14,139,241 (GRCm39)	F301L	probably benign	Het
Supt16	G	A	14: 52,418,619 (GRCm39)	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,433,179 (GRCm39)	D334E	probably benign	Het
Tmem87a	C	T	2: 120,202,004 (GRCm39)		probably null	Het
Tnk1	T	C	11: 69,742,447 (GRCm39)	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Tnxb	A	G	17: 34,937,492 (GRCm39)	D2947G	probably damaging	Het
Traf4	A	G	11: 78,051,617 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,045,218 (GRCm39)	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,775,993 (GRCm39)	T49A	probably benign	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,279,032 (GRCm39)		probably benign	Het
Unc79	G	T	12: 103,137,837 (GRCm39)	V2485L	probably benign	Het
Ush2a	T	C	1: 188,132,360 (GRCm39)	S861P	probably damaging	Het
Vcam1	A	G	3: 115,910,877 (GRCm39)	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,320,895 (GRCm39)	M81V	probably benign	Het
Zfp652	G	T	11: 95,643,830 (GRCm39)	V343L	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
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
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'- CCTGCAGGGTAGAATTTCTGG -3'
(R):5'- AGTACAGTATGACACCTGCATCC -3'

Sequencing Primer
(F):5'- AGAATTTCTGGAGAGCGCTC -3'
(R):5'- CAGTTCAGCAATGCAGAG -3'

Posted On

2019-09-13