Mutagenetix > Incidental Mutations

Incidental Mutation 'R7258:Pde11a'

564397

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001081033; MGI: 3036251

Is this an essential gene?

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

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75989141-76338774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76139906 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 502 (D502G)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099992
AA Change: D502G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: D502G

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

SMART Domains

Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: D140G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	C	1: 87,475,067	I40L	probably benign	Het
4933402J07Rik	A	C	8: 87,586,177	S197R	probably damaging	Het
Abcc12	T	C	8: 86,560,857	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,450,219	I67V	probably benign	Het
Alpk1	A	T	3: 127,724,466	V62E	probably damaging	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
B230118H07Rik	T	C	2: 101,610,592	D22G	probably null	Het
Ccr5	A	T	9: 124,125,274	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,326,084	H339R	probably damaging	Het
Cep290	T	G	10: 100,499,108	M330R	probably benign	Het
Cyfip2	T	C	11: 46,224,177	Y901C	probably benign	Het
Ddx54	T	G	5: 120,620,747	Y352D	probably damaging	Het
Defa35	A	T	8: 21,065,229	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,683,599		probably null	Het
Enpep	A	C	3: 129,332,075	L136R	probably benign	Het
Epb41l2	G	A	10: 25,484,287	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,300,953	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,506,781	L410H	probably damaging	Het
Gipc2	T	C	3: 152,165,715	E58G	probably damaging	Het
Gm281	A	T	14: 13,899,648	F91L		Het
Gm6309	A	T	5: 146,168,296	V269E	probably benign	Het
Grm5	A	T	7: 88,074,706	T735S	probably damaging	Het
H6pd	T	C	4: 149,996,362	M9V	probably benign	Het
Hmcn1	A	G	1: 150,715,823	I1875T	probably benign	Het
Hrc	T	A	7: 45,336,296	D290E	possibly damaging	Het
Ippk	C	A	13: 49,433,862	Q136K	probably benign	Het
Kcnv1	T	C	15: 45,109,315	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,621,021	E1088A	probably damaging	Het
L1td1	C	T	4: 98,736,864	A432V	probably benign	Het
Ly86	A	G	13: 37,345,497	D20G	probably benign	Het
Myo1g	A	G	11: 6,509,416	I818T	possibly damaging	Het
Nms	A	G	1: 38,946,970	T121A	probably benign	Het
Olfr1084	T	A	2: 86,639,001	K236*	probably null	Het
Olfr1414	A	T	1: 92,511,176	I284N	possibly damaging	Het
Olfr350	T	A	2: 36,850,340	I98K	probably damaging	Het
Olfr391-ps	T	G	11: 73,799,380	I126L	probably damaging	Het
Olfr609	G	C	7: 103,492,589	C96W	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Pcdhb9	T	C	18: 37,402,114	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,093,186	R95H	probably damaging	Het
Plekhg2	T	C	7: 28,364,778	D446G	probably benign	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rasal2	A	T	1: 157,157,700	L826M	probably damaging	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Sin3b	T	C	8: 72,750,208	C757R	probably benign	Het
Slc41a1	T	A	1: 131,842,042	V300D	probably benign	Het
Snrpa1	T	C	7: 66,070,143	F162L	probably damaging	Het
Sox30	C	A	11: 45,980,552	A78E	unknown	Het
Ssc4d	G	T	5: 135,963,087	A401E	probably damaging	Het
Steap3	A	G	1: 120,243,986	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,754,907		probably null	Het
Tgfbr2	A	T	9: 116,129,830	I172N	probably damaging	Het
Tgm4	A	G	9: 123,062,491	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,271,413	S96P	probably damaging	Het
Trpa1	T	G	1: 14,903,249	T282P	probably damaging	Het
Uba5	A	T	9: 104,062,933	V5E	unknown	Het
Ugt2b36	A	T	5: 87,080,903	L427H	probably damaging	Het
Utp14b	T	A	1: 78,664,974	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,377,849	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,305,141	L354V	probably benign	Het
Wwc2	T	A	8: 47,842,999	N1079Y	unknown	Het
Zfp653	T	C	9: 22,065,820	D145G	probably benign	Het
Zfp777	T	C	6: 48,025,797	E453G	probably damaging	Het
Zfp936	T	A	7: 43,190,379	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,656,954	Y496N	possibly damaging	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
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
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'- TGCTATGGCATTGTAGAGCAG -3'
(R):5'- ATCTGCTATAGACAGCTAAGGTG -3'

Sequencing Primer
(F):5'- AGACATAACTTGGACTGGGTCTG -3'
(R):5'- CTGCTATAGACAGCTAAGGTGAGAAG -3'

Posted On

2019-06-26