Mutagenetix > Incidental Mutations

Incidental Mutation 'R5017:Pde11a'

448970

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

042608-MU

Accession Numbers

Genbank: NM_001081033; MGI: 3036251

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R5017 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75989141-76338774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76136367 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 579 (D579E)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099992
AA Change: D579E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: D579E

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

probably benign
Transcript: ENSMUST00000144892

SMART Domains

Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270

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

Meta Mutation Damage Score

0.1392

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 87.9%

Validation Efficiency

96% (46/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,296,676	F167I	unknown	Het
Adamdec1	T	C	14: 68,573,245	D154G	probably benign	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arhgef3	G	T	14: 27,265,530	R20L	possibly damaging	Het
Birc2	A	T	9: 7,818,885	C568*	probably null	Het
Cep44	A	G	8: 56,544,207	S99P	possibly damaging	Het
Clstn2	A	G	9: 97,483,086	W456R	probably damaging	Het
Cog5	T	A	12: 31,920,605	S783T	probably benign	Het
Endod1	G	A	9: 14,356,891	R433*	probably null	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gdpd4	C	A	7: 98,004,275	Y498*	probably null	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Hapln2	A	G	3: 88,024,001	V69A	probably damaging	Het
Ifit3	A	C	19: 34,587,192	N46T	possibly damaging	Het
Kcnh8	T	C	17: 52,893,930	L464S	probably damaging	Het
Lrrc9	C	A	12: 72,506,325	R1334S	possibly damaging	Het
Macf1	A	G	4: 123,452,113	F2631L	probably damaging	Het
Mafa	T	C	15: 75,747,489	H145R	probably benign	Het
Muc6	T	C	7: 141,640,528	T1411A	probably benign	Het
Nos3	A	G	5: 24,366,719		probably benign	Het
Nwd2	T	A	5: 63,650,141		probably benign	Het
Olfr160	A	T	9: 37,711,525	Y251*	probably null	Het
Olfr44	A	T	9: 39,484,755	M166K	possibly damaging	Het
Olfr981	A	T	9: 40,022,376		probably benign	Het
Phkb	A	T	8: 86,049,809	H954L	probably benign	Het
Phldb3	C	T	7: 24,620,096	T353M	probably damaging	Het
Pigu	A	T	2: 155,299,208		probably null	Het
Pla2r1	A	G	2: 60,522,760		probably null	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Setbp1	C	A	18: 78,856,594	G1286V	possibly damaging	Het
Siglecg	T	A	7: 43,411,386		probably benign	Het
Slc25a46	A	T	18: 31,605,783	H118Q	probably damaging	Het
Sycp1	A	T	3: 102,895,987		probably null	Het
Tmem132c	A	G	5: 127,563,350	T862A	probably benign	Het
Tmem256	T	C	11: 69,838,992		probably benign	Het
Tpr	A	T	1: 150,398,637	E98D	probably benign	Het
Trdn	A	G	10: 33,468,159	D623G	probably benign	Het
Trip11	T	C	12: 101,846,620	N1485S	probably benign	Het
Trpm1	T	C	7: 64,244,832		probably benign	Het
Uhrf1bp1	T	A	17: 27,894,739	L1295*	probably null	Het
Vmn1r227	T	C	17: 20,736,078		noncoding transcript	Het
Xpo6	G	A	7: 126,104,747	A21V	probably benign	Het
Zfp276	A	G	8: 123,264,977		probably benign	Het

Other mutations in Pde11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pde11a	APN	2	76215385	missense	probably damaging	1.00
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
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
R7969:Pde11a	UTSW	2	76291203	missense	probably benign
R8045:Pde11a	UTSW	2	76022728	missense	probably damaging	0.99
Z1176:Pde11a	UTSW	2	76194905	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGAGACCCAGTGACGAGAG -3'
(R):5'- GGAACTGTCTCTGGTGACTG -3'

Sequencing Primer
(F):5'- GACCAGTGCTCTAAAAGATTCTGAGC -3'
(R):5'- GTGACTGCCTGCTTTCATATTAG -3'

Posted On

2016-12-20