Mutagenetix > Incidental Mutations

Incidental Mutation 'R0499:Pde5a'

46997

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

PDE5A1, Pde5

MMRRC Submission

038695-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122728947-122859374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122748458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 199 (N199S)

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: N231S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: N231S

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: ENSMUST00000198314

Predicted Effect

probably damaging
Transcript: ENSMUST00000200389
AA Change: N199S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: N199S

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

0.4876

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264		probably benign	Het
Ankmy1	G	T	1: 92,886,226	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397		probably null	Het
Arl13b	G	A	16: 62,801,733	T399I	probably benign	Het
Atad2	A	T	15: 58,103,240	D652E	possibly damaging	Het
Atad2	T	G	15: 58,120,949	M328L	probably benign	Het
BC052040	C	T	2: 115,642,691	R101W	probably damaging	Het
Ccnb1	T	C	13: 100,780,134		probably null	Het
Ccr2	G	C	9: 124,105,939	K85N	possibly damaging	Het
Ccr2	A	T	9: 124,106,126	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,055,950	V59A	probably benign	Het
Cdkl3	T	C	11: 52,032,416	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689	F101L	probably benign	Het
Cntnap3	C	T	13: 64,858,678	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Col27a1	A	G	4: 63,300,741		probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Dopey2	A	T	16: 93,770,437	T1251S	probably benign	Het
Dtx2	G	A	5: 136,029,103	G421R	probably damaging	Het
Dusp27	C	A	1: 166,099,101	V981L	probably benign	Het
Epb41l3	T	A	17: 69,247,659	D251E	probably benign	Het
Erg	A	C	16: 95,360,983	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909	I323L	probably benign	Het
Far1	G	T	7: 113,554,296		probably benign	Het
Fmod	A	G	1: 134,041,196	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm17359	T	A	3: 79,405,786	W56R	probably damaging	Het
Gm17660	C	A	5: 104,074,881	G24*	probably null	Het
Gm4076	G	T	13: 85,127,226		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369	C3107*	probably null	Het
Herc4	T	C	10: 63,264,032	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,921	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984		probably null	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193		probably null	Het
Lyst	T	A	13: 13,616,713	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883	M959K	probably benign	Het
Odf3l2	T	C	10: 79,640,265	D155G	probably damaging	Het
Olfr1311	A	T	2: 112,021,432	C141S	probably damaging	Het
Olfr319	G	A	11: 58,702,243	V181I	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505	M258L	probably benign	Het
Otog	G	T	7: 46,273,832	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651	K111R	probably damaging	Het
Plekhg1	T	C	10: 3,937,971	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415	N420K	probably damaging	Het
Sde2	T	A	1: 180,862,427	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228		probably benign	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088	Q1221K	probably benign	Het
Spocd1	A	G	4: 129,955,470	N694S	possibly damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080		probably null	Het

Other mutations in Pde5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Pde5a	APN	3	122794357	missense	probably damaging	1.00
IGL00945:Pde5a	APN	3	122835642	critical splice donor site	probably null
IGL01395:Pde5a	APN	3	122817955	missense	probably benign	0.40
IGL01872:Pde5a	APN	3	122794369	critical splice donor site	probably null
IGL01947:Pde5a	APN	3	122835610	missense	probably damaging	1.00
IGL02033:Pde5a	APN	3	122803061	missense	possibly damaging	0.51
IGL02209:Pde5a	APN	3	122825015	splice site	probably benign
IGL02220:Pde5a	APN	3	122748382	missense	probably benign	0.05
IGL02301:Pde5a	APN	3	122760885	missense	probably damaging	1.00
IGL02748:Pde5a	APN	3	122760892	missense	probably damaging	0.99
R0009:Pde5a	UTSW	3	122824902	splice site	probably benign
R0031:Pde5a	UTSW	3	122803055	missense	probably benign	0.00
R0119:Pde5a	UTSW	3	122748458	missense	probably damaging	1.00
R0390:Pde5a	UTSW	3	122835583	missense	probably damaging	1.00
R0481:Pde5a	UTSW	3	122818077	splice site	probably benign
R0657:Pde5a	UTSW	3	122748458	missense	probably damaging	1.00
R0845:Pde5a	UTSW	3	122729331	missense	probably benign	0.28
R0908:Pde5a	UTSW	3	122779001	missense	probably benign	0.01
R1147:Pde5a	UTSW	3	122794313	missense	probably damaging	1.00
R1147:Pde5a	UTSW	3	122794313	missense	probably damaging	1.00
R1553:Pde5a	UTSW	3	122778936	missense	probably benign	0.14
R1728:Pde5a	UTSW	3	122748240	missense	probably damaging	1.00
R1744:Pde5a	UTSW	3	122747897	missense	probably damaging	0.97
R1774:Pde5a	UTSW	3	122729364	missense	probably benign	0.01
R1784:Pde5a	UTSW	3	122748240	missense	probably damaging	1.00
R2437:Pde5a	UTSW	3	122843053	missense	probably damaging	1.00
R2844:Pde5a	UTSW	3	122851708	missense	probably damaging	1.00
R2897:Pde5a	UTSW	3	122779002	missense	probably benign	0.03
R2936:Pde5a	UTSW	3	122794319	missense	probably damaging	0.97
R3160:Pde5a	UTSW	3	122781628	nonsense	probably null
R3162:Pde5a	UTSW	3	122781628	nonsense	probably null
R3704:Pde5a	UTSW	3	122779019	missense	probably benign	0.00
R3847:Pde5a	UTSW	3	122803160	missense	probably damaging	0.98
R3932:Pde5a	UTSW	3	122760896	missense	probably damaging	0.98
R4387:Pde5a	UTSW	3	122729352	missense	probably benign	0.00
R4613:Pde5a	UTSW	3	122823093	missense	probably damaging	1.00
R4676:Pde5a	UTSW	3	122747893	missense	possibly damaging	0.67
R5034:Pde5a	UTSW	3	122852586	missense	probably damaging	1.00
R5034:Pde5a	UTSW	3	122852587	missense	probably damaging	1.00
R5358:Pde5a	UTSW	3	122748176	missense	probably damaging	1.00
R5394:Pde5a	UTSW	3	122818009	missense	probably damaging	1.00
R5502:Pde5a	UTSW	3	122803032	missense	probably damaging	1.00
R5821:Pde5a	UTSW	3	122817955	missense	probably benign	0.40
R5932:Pde5a	UTSW	3	122841044	missense	probably benign	0.01
R6063:Pde5a	UTSW	3	122824925	missense	probably benign	0.23
R6190:Pde5a	UTSW	3	122729307	missense	probably benign	0.28
R6815:Pde5a	UTSW	3	122824924	missense	probably benign	0.01
R6940:Pde5a	UTSW	3	122779032	missense	possibly damaging	0.53
R7274:Pde5a	UTSW	3	122855246	nonsense	probably null
R7337:Pde5a	UTSW	3	122748458	missense	probably damaging	1.00
R7384:Pde5a	UTSW	3	122825000	missense	probably damaging	1.00
R7480:Pde5a	UTSW	3	122803148	missense	possibly damaging	0.50
R7508:Pde5a	UTSW	3	122818030	missense	probably damaging	1.00
R7522:Pde5a	UTSW	3	122840999	nonsense	probably null
R7623:Pde5a	UTSW	3	122774601	missense	probably benign
R8153:Pde5a	UTSW	3	122852576	missense	probably benign	0.30
R8153:Pde5a	UTSW	3	122852578	missense	probably damaging	1.00
R8351:Pde5a	UTSW	3	122748479	critical splice donor site	probably null
R8927:Pde5a	UTSW	3	122839600	missense	probably damaging	1.00
R8928:Pde5a	UTSW	3	122839600	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAACAGTGAGCTTTCTCTCTGAC -3'
(R):5'- AGCAGTGCTCCTATCCTAGACTCTTTG -3'

Sequencing Primer
(F):5'- CCCCCCAAGATTTGATAGTGATG -3'
(R):5'- agattcaatccaagactttgcac -3'

Posted On

2013-06-12