Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Pde4a'

359738

Institutional Source

Beutler Lab

Gene Symbol

Pde4a

Ensembl Gene

ENSMUSG00000032177

Gene Name

phosphodiesterase 4A, cAMP specific

Synonyms

D9Ertd60e, dunce, Dpde2

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

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

Stock #

R2239 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

21077010-21124544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21122564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 820 (C820Y)

Ref Sequence

ENSEMBL: ENSMUSP00000037025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003395] [ENSMUST00000039413] [ENSMUST00000115458]

AlphaFold

O89084

Predicted Effect

probably damaging
Transcript: ENSMUST00000003395
AA Change: C586Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: C586Y

Domain	Start	End	E-Value	Type
low complexity region	62	87	N/A	INTRINSIC
HDc	182	357	7.12e-5	SMART
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000039413
AA Change: C820Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: C820Y

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	92	102	N/A	INTRINSIC
low complexity region	296	321	N/A	INTRINSIC
HDc	416	591	7.12e-5	SMART
low complexity region	696	709	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115458
AA Change: C763Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: C763Y

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
low complexity region	239	264	N/A	INTRINSIC
HDc	359	534	7.12e-5	SMART
low complexity region	639	652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131769

Meta Mutation Damage Score

0.2759

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice have a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in Pde4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pde4a	APN	9	21,122,357 (GRCm39)	missense	probably benign	0.01
IGL01330:Pde4a	APN	9	21,103,734 (GRCm39)	splice site	probably benign
IGL01403:Pde4a	APN	9	21,116,412 (GRCm39)	missense	probably damaging	1.00
IGL01610:Pde4a	APN	9	21,122,646 (GRCm39)	utr 3 prime	probably benign
IGL02010:Pde4a	APN	9	21,114,850 (GRCm39)	critical splice donor site	probably null
IGL02296:Pde4a	APN	9	21,103,865 (GRCm39)	missense	possibly damaging	0.94
IGL02637:Pde4a	APN	9	21,112,628 (GRCm39)	missense	probably damaging	0.97
PIT4696001:Pde4a	UTSW	9	21,122,297 (GRCm39)	missense	probably benign
R0032:Pde4a	UTSW	9	21,112,728 (GRCm39)	splice site	probably benign
R0032:Pde4a	UTSW	9	21,112,728 (GRCm39)	splice site	probably benign
R0257:Pde4a	UTSW	9	21,103,717 (GRCm39)	missense	probably damaging	1.00
R0504:Pde4a	UTSW	9	21,115,699 (GRCm39)	missense	probably damaging	1.00
R1437:Pde4a	UTSW	9	21,103,888 (GRCm39)	critical splice donor site	probably null
R1524:Pde4a	UTSW	9	21,112,543 (GRCm39)	missense	probably damaging	0.98
R1750:Pde4a	UTSW	9	21,114,528 (GRCm39)	missense	probably damaging	1.00
R2905:Pde4a	UTSW	9	21,112,645 (GRCm39)	missense	probably benign	0.01
R2991:Pde4a	UTSW	9	21,114,539 (GRCm39)	missense	probably damaging	0.96
R3972:Pde4a	UTSW	9	21,117,513 (GRCm39)	missense	probably damaging	1.00
R4826:Pde4a	UTSW	9	21,103,676 (GRCm39)	splice site	probably null
R4922:Pde4a	UTSW	9	21,122,009 (GRCm39)	missense	probably damaging	1.00
R5195:Pde4a	UTSW	9	21,115,629 (GRCm39)	missense	possibly damaging	0.70
R5208:Pde4a	UTSW	9	21,114,854 (GRCm39)	splice site	probably null
R5552:Pde4a	UTSW	9	21,112,682 (GRCm39)	missense	probably damaging	1.00
R5713:Pde4a	UTSW	9	21,114,813 (GRCm39)	missense	probably damaging	1.00
R6722:Pde4a	UTSW	9	21,122,521 (GRCm39)	missense	probably damaging	1.00
R6792:Pde4a	UTSW	9	21,103,886 (GRCm39)	missense	probably benign	0.03
R6861:Pde4a	UTSW	9	21,116,597 (GRCm39)	missense	probably damaging	1.00
R6901:Pde4a	UTSW	9	21,116,266 (GRCm39)	missense	probably benign	0.37
R7300:Pde4a	UTSW	9	21,117,618 (GRCm39)	missense	probably damaging	1.00
R7690:Pde4a	UTSW	9	21,077,300 (GRCm39)	missense	probably damaging	1.00
R7798:Pde4a	UTSW	9	21,109,959 (GRCm39)	missense	possibly damaging	0.63
R8073:Pde4a	UTSW	9	21,122,065 (GRCm39)	missense	probably damaging	1.00
R8133:Pde4a	UTSW	9	21,102,673 (GRCm39)	missense	possibly damaging	0.87
R8167:Pde4a	UTSW	9	21,117,469 (GRCm39)	missense	possibly damaging	0.95
R8297:Pde4a	UTSW	9	21,077,404 (GRCm39)	missense	possibly damaging	0.94
R8348:Pde4a	UTSW	9	21,117,534 (GRCm39)	missense	probably benign	0.35
R8448:Pde4a	UTSW	9	21,117,534 (GRCm39)	missense	probably benign	0.35
R8853:Pde4a	UTSW	9	21,106,119 (GRCm39)	missense	possibly damaging	0.81
R8953:Pde4a	UTSW	9	21,122,030 (GRCm39)	missense	probably damaging	1.00
R9167:Pde4a	UTSW	9	21,102,798 (GRCm39)	missense	probably benign	0.20
R9492:Pde4a	UTSW	9	21,106,096 (GRCm39)	missense	probably damaging	1.00
R9686:Pde4a	UTSW	9	21,117,562 (GRCm39)	missense	probably benign	0.09
X0027:Pde4a	UTSW	9	21,109,950 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTCAAAGGTCAAAGGCC -3'
(R):5'- TTTCTCAGGAGGGCCAGGAG -3'

Sequencing Primer
(F):5'- TTTGAAGCAGGAGACAGCCTC -3'
(R):5'- AGGGCCAGGAGTCGTTG -3'

Posted On

2015-12-14