Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00839:Pde11a'

12952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

Accession Numbers

Genbank: NM_001081033; MGI: 3036251

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL00839

Quality Score

Status

Chromosome

Chromosomal Location

75989141-76338774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76215385 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 365 (F365S)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099992]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099992
AA Change: F365S

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

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: F365S

Domain	Start	End	E-Value	Type
low complexity region	68	82	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
GAF	217	380	1.79e-30	SMART
GAF	402	568	2.34e-25	SMART
HDc	661	830	7.75e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000144892
AA Change: F3S

SMART Domains

Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: F3S

Domain	Start	End	E-Value	Type
GAF	41	207	9.16e-19	SMART
HDc	269	438	2.04e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have enlarged lateral ventricles and exhibit abnormal behavior. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,660,916	S1031T	probably benign	Het
a	T	A	2: 155,045,673	F18I	probably benign	Het
Acsl4	A	T	X: 142,339,952	N421K	possibly damaging	Het
Ampd1	A	G	3: 103,099,694	E745G	possibly damaging	Het
Ankrd44	T	C	1: 54,667,435	N436D	probably benign	Het
Ap1s2	A	G	X: 163,926,955	Y160C	probably damaging	Het
Bms1	C	T	6: 118,405,291	V429M	probably benign	Het
Cep57l1	T	C	10: 41,731,093	E158G	probably damaging	Het
Cldn34b4	T	A	X: 76,397,349	C71S	probably damaging	Het
Col1a2	C	T	6: 4,531,095		probably benign	Het
Crisp3	T	G	17: 40,239,256		probably null	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Defa24	T	A	8: 21,734,697	L54H	probably damaging	Het
Dennd1a	A	G	2: 37,816,982	V504A	probably benign	Het
Eloa	G	A	4: 136,011,359	R97C	probably damaging	Het
Espl1	T	C	15: 102,320,547		probably benign	Het
Fgb	T	A	3: 83,043,291	R385S	possibly damaging	Het
Glod4	T	A	11: 76,233,278	H223L	probably benign	Het
Gm13084	T	C	4: 143,812,723	T67A	probably benign	Het
Hrh1	C	T	6: 114,480,322	T188I	probably damaging	Het
Hsph1	G	T	5: 149,618,454	A769D	possibly damaging	Het
Jak2	C	T	19: 29,301,647	P933S	probably damaging	Het
Lrrd1	T	A	5: 3,850,017	D107E	probably benign	Het
Osbpl8	T	A	10: 111,291,510	S776R	probably benign	Het
Pcna	C	T	2: 132,251,420	V136I	probably benign	Het
Pi15	A	G	1: 17,621,523	H183R	probably damaging	Het
Plce1	A	G	19: 38,698,562	Y638C	probably damaging	Het
Pnpla6	A	G	8: 3,542,299	D1196G	probably benign	Het
Psg22	A	G	7: 18,722,968	I220V	probably benign	Het
Rap1gap2	A	T	11: 74,437,448	Y97N	probably damaging	Het
Taf2	A	T	15: 55,045,778	C690*	probably null	Het
Taf3	A	T	2: 9,952,917	D146E	probably damaging	Het
Tnrc6c	A	G	11: 117,714,185	T49A	possibly damaging	Het
Trdn	T	C	10: 33,471,606		probably null	Het
Ttc29	C	T	8: 78,333,756	T435I	probably benign	Het
Vps37b	T	C	5: 124,010,751	T74A	possibly damaging	Het
Zbtb11	T	A	16: 56,000,602	Y687*	probably null	Het

Other mutations in Pde11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Pde11a	APN	2	76194956	splice site	probably benign
IGL02117:Pde11a	APN	2	75991262	missense	probably damaging	1.00
IGL02428:Pde11a	APN	2	76046845	missense	possibly damaging	0.68
IGL02455:Pde11a	APN	2	76158393	missense	possibly damaging	0.58
IGL02731:Pde11a	APN	2	75991239	missense	probably benign	0.00
IGL03068:Pde11a	APN	2	76017864	missense	probably damaging	1.00
IGL03081:Pde11a	APN	2	76075930	splice site	probably benign
D4186:Pde11a	UTSW	2	76291290	missense	probably damaging	1.00
R0323:Pde11a	UTSW	2	76046774	splice site	probably null
R0433:Pde11a	UTSW	2	76337706	missense	possibly damaging	0.47
R1226:Pde11a	UTSW	2	76158354	missense	probably benign	0.10
R1542:Pde11a	UTSW	2	76046855	missense	probably benign	0.25
R1941:Pde11a	UTSW	2	76291250	missense	probably benign	0.10
R2107:Pde11a	UTSW	2	76337922	missense	probably damaging	1.00
R2394:Pde11a	UTSW	2	76059061	missense	probably benign	0.00
R3689:Pde11a	UTSW	2	76291166	missense	probably damaging	1.00
R3690:Pde11a	UTSW	2	76291166	missense	probably damaging	1.00
R3945:Pde11a	UTSW	2	76075931	splice site	probably benign
R4073:Pde11a	UTSW	2	76337898	missense	probably damaging	1.00
R4074:Pde11a	UTSW	2	76337898	missense	probably damaging	1.00
R4588:Pde11a	UTSW	2	76029303	missense	probably damaging	1.00
R4602:Pde11a	UTSW	2	76158333	missense	probably benign	0.05
R4604:Pde11a	UTSW	2	76337793	missense	possibly damaging	0.89
R4609:Pde11a	UTSW	2	76291241	missense	possibly damaging	0.94
R4610:Pde11a	UTSW	2	76158333	missense	probably benign	0.05
R5017:Pde11a	UTSW	2	76136367	missense	probably benign	0.05
R5519:Pde11a	UTSW	2	76075955	missense	probably damaging	1.00
R5930:Pde11a	UTSW	2	76139831	splice site	probably null
R6000:Pde11a	UTSW	2	76017860	missense	probably damaging	0.98
R6018:Pde11a	UTSW	2	76017850	missense	probably benign	0.00
R6913:Pde11a	UTSW	2	76337740	missense	probably damaging	1.00
R7117:Pde11a	UTSW	2	76076004	missense	probably damaging	1.00
R7258:Pde11a	UTSW	2	76139906	missense	possibly damaging	0.91
R7267:Pde11a	UTSW	2	76337845	missense	probably damaging	1.00
R7409:Pde11a	UTSW	2	76005984	missense
R7451:Pde11a	UTSW	2	76022773	missense	possibly damaging	0.89
R7452:Pde11a	UTSW	2	76136414	missense	probably damaging	1.00
R7598:Pde11a	UTSW	2	76136423	missense	probably damaging	1.00
R7671:Pde11a	UTSW	2	76215353	missense	possibly damaging	0.81
R7886:Pde11a	UTSW	2	76291203	missense	probably benign
R8045:Pde11a	UTSW	2	76022728	missense	probably damaging	0.99
R8137:Pde11a	UTSW	2	76211039	missense	possibly damaging	0.91
R8420:Pde11a	UTSW	2	76059010	missense	probably damaging	1.00
R8730:Pde11a	UTSW	2	76058990	missense	probably damaging	1.00
Z1176:Pde11a	UTSW	2	76194905	missense	probably benign	0.01

Posted On

2012-12-06