Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Pde5a'

350944

Institutional Source

Beutler Lab

Gene Symbol

Pde5a

Ensembl Gene

ENSMUSG00000053965

Gene Name

phosphodiesterase 5A, cGMP-specific

Synonyms

PDE5A1, Pde5

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122728947-122859374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122823093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 564 (Y564F)

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: Y596F

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

SMART Domains

Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: Y596F

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: Y564F

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

SMART Domains

Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: Y564F

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	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
R0499:Pde5a	UTSW	3	122748458	missense	probably damaging	1.00
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
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'- TGGCTCCTTCCTCTGTAAAGTG -3'
(R):5'- GACCCAGGGATTATGAAAATGTAAC -3'

Sequencing Primer
(F):5'- GTGATCAAATAGTCATGTGTGCCTCC -3'
(R):5'- GGATTTCTGAGTTCAAGGCCAACC -3'

Posted On

2015-10-08