Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Pde5a'

31578

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

Pde5, PDE5A1

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

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

Stock #

R0390 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

122522822-122653023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122629232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 635 (C635W)

Ref Sequence

ENSEMBL: ENSMUSP00000143042 (fasta)

Gene Model

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

AlphaFold

Q8CG03

Predicted Effect

probably damaging
Transcript: ENSMUST00000066728
AA Change: C667W

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

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: C667W

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: C635W

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

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: C635W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,359,849 (GRCm39)	M183T	probably damaging	Het
Apob	A	T	12: 8,038,678 (GRCm39)	I364F	probably damaging	Het
Arl6	A	T	16: 59,442,784 (GRCm39)		probably benign	Het
Cand2	A	G	6: 115,751,614 (GRCm39)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,112,302 (GRCm39)	F131S	probably damaging	Het
Ccdc74a	A	G	16: 17,468,340 (GRCm39)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,358,006 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,418,789 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,344,620 (GRCm39)	E479G	probably benign	Het
Chrm2	T	G	6: 36,501,046 (GRCm39)	I301R	probably benign	Het
Clec2e	A	G	6: 129,070,431 (GRCm39)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,458,218 (GRCm39)	S96*	probably null	Het
Col19a1	A	G	1: 24,328,736 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,027,466 (GRCm39)		probably benign	Het
Cthrc1	A	T	15: 38,950,159 (GRCm39)	*172L	probably null	Het
Cul9	A	T	17: 46,839,515 (GRCm39)	I821N	probably benign	Het
Daam1	G	C	12: 72,022,078 (GRCm39)		probably benign	Het
Dhx58	A	T	11: 100,590,090 (GRCm39)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,091,794 (GRCm39)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,320,454 (GRCm39)	D50G	probably damaging	Het
Dmxl1	C	A	18: 50,012,429 (GRCm39)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,730,558 (GRCm39)	P315L	probably damaging	Het
Ep300	T	C	15: 81,524,317 (GRCm39)	S1382P	unknown	Het
Fat2	A	T	11: 55,201,603 (GRCm39)	N490K	probably damaging	Het
Flg2	T	A	3: 93,107,662 (GRCm39)		probably benign	Het
Gpatch1	T	C	7: 34,980,806 (GRCm39)		probably benign	Het
Grin2a	C	A	16: 9,397,449 (GRCm39)	K879N	possibly damaging	Het
Hacd3	A	C	9: 64,908,304 (GRCm39)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,210,245 (GRCm39)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 93,945,335 (GRCm39)		probably benign	Het
Hsd3b1	A	T	3: 98,760,355 (GRCm39)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,264,093 (GRCm39)		probably null	Het
Igf2bp2	A	G	16: 21,900,551 (GRCm39)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 34,931,459 (GRCm39)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,551,597 (GRCm39)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,540,620 (GRCm39)	D308V	probably benign	Het
Larp4b	T	A	13: 9,208,143 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm39)	T11S	probably benign	Het
Man1c1	A	G	4: 134,305,626 (GRCm39)	L366P	probably damaging	Het
Mef2a	A	G	7: 66,901,472 (GRCm39)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,366,458 (GRCm39)	H474Y	possibly damaging	Het
Minar2	T	A	18: 59,208,760 (GRCm39)	V136E	probably damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm39)	D352G	probably benign	Het
Mns1	T	C	9: 72,360,086 (GRCm39)	I412T	probably damaging	Het
Mon2	T	C	10: 122,842,926 (GRCm39)	D1501G	probably null	Het
Mylk	G	T	16: 34,695,990 (GRCm39)	G242W	probably damaging	Het
Nav1	T	C	1: 135,377,704 (GRCm39)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,362,310 (GRCm39)	S2P	probably damaging	Het
Nek3	A	T	8: 22,618,745 (GRCm39)		probably benign	Het
Nfrkb	A	G	9: 31,300,193 (GRCm39)		probably benign	Het
Nlrp4d	T	C	7: 10,122,705 (GRCm39)	D53G	probably benign	Het
Nol8	T	C	13: 49,815,628 (GRCm39)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,352,866 (GRCm39)		probably benign	Het
Odad3	T	A	9: 21,903,004 (GRCm39)	H442L	probably benign	Het
Ofcc1	T	A	13: 40,168,789 (GRCm39)	D866V	possibly damaging	Het
Optn	A	G	2: 5,051,006 (GRCm39)	L125P	probably benign	Het
Or5k3	A	G	16: 58,969,662 (GRCm39)	I150V	probably benign	Het
Otoa	T	A	7: 120,730,564 (GRCm39)	F588Y	probably benign	Het
Pappa	T	A	4: 65,269,850 (GRCm39)		probably null	Het
Pdgfb	A	T	15: 79,887,620 (GRCm39)		probably null	Het
Pih1d2	T	A	9: 50,532,346 (GRCm39)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,594,286 (GRCm39)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,567,619 (GRCm39)		probably benign	Het
Pramel26	T	A	4: 143,538,269 (GRCm39)	D234V	probably benign	Het
Prdm10	G	A	9: 31,260,564 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prss56	T	G	1: 87,112,452 (GRCm39)		probably null	Het
Prtg	A	G	9: 72,752,240 (GRCm39)	K209E	probably benign	Het
Ptprc	G	A	1: 138,050,313 (GRCm39)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 28,845,285 (GRCm39)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,318,858 (GRCm39)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,763,197 (GRCm39)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,415,987 (GRCm39)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,180,451 (GRCm39)	K434R	probably damaging	Het
Rims1	C	T	1: 22,635,607 (GRCm39)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,333,473 (GRCm39)	V746A	probably benign	Het
Rtl1	C	T	12: 109,557,820 (GRCm39)	E1340K	unknown	Het
Sacs	G	A	14: 61,443,089 (GRCm39)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,103,402 (GRCm39)	P19S	probably benign	Het
Samhd1	T	C	2: 156,956,151 (GRCm39)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,500,410 (GRCm39)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm39)	A4T	probably benign	Het
Skint9	C	A	4: 112,246,376 (GRCm39)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,512,832 (GRCm39)	L372P	probably damaging	Het
Smc1b	A	T	15: 84,950,478 (GRCm39)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,785,138 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,491,648 (GRCm39)	D417G	probably benign	Het
Sv2c	T	C	13: 96,225,216 (GRCm39)	N31S	probably benign	Het
Tjp1	T	C	7: 64,964,738 (GRCm39)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,010,014 (GRCm39)	D182G	probably damaging	Het
Traf6	C	T	2: 101,518,933 (GRCm39)	Q141*	probably null	Het
Ttn	T	C	2: 76,587,275 (GRCm39)	D21574G	probably damaging	Het
Uba2	T	A	7: 33,850,446 (GRCm39)	N367I	probably benign	Het
Ube2b	T	C	11: 51,879,429 (GRCm39)		probably benign	Het
Ubr5	G	T	15: 38,030,916 (GRCm39)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,612,007 (GRCm39)	H301L	probably benign	Het
Upf2	T	A	2: 6,023,705 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,585,804 (GRCm39)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,800,140 (GRCm39)	D734G	probably damaging	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vwf	T	A	6: 125,603,324 (GRCm39)	Y891*	probably null	Het
Wwox	C	T	8: 115,433,018 (GRCm39)	T228I	probably benign	Het
Zer1	C	T	2: 29,998,225 (GRCm39)		probably benign	Het
Zfp180	C	T	7: 23,804,132 (GRCm39)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,605,487 (GRCm39)	Y279N	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
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
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'- ACATTTCAAACCAGTGAGACTGCCC -3'
(R):5'- GCAGCAGCCATAAAATACCAGTTCG -3'

Sequencing Primer
(F):5'- AAACGGGCAGCCTTATTCTTTG -3'
(R):5'- AGAATGTTTGGGCTAATCCTTCC -3'

Posted On

2013-04-24