Mutagenetix > Incidental Mutations

Incidental Mutation 'R4074:Pde11a'

316439

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

040855-MU

Accession Numbers

Genbank: NM_001081033; MGI: 3036251

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75989141-76338774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76337898 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 237 (R237H)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099992
AA Change: R237H

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

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: R237H

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

Meta Mutation Damage Score

0.7712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably null	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably 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
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
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'- GTAGGCATCCGGGATGTTAAC -3'
(R):5'- CATTCTAAGTGCCCTGCTGG -3'

Sequencing Primer
(F):5'- CATCCGGGATGTTAACAGTTTC -3'
(R):5'- GAATCGAGGGTGAATCTGCCTC -3'

Posted On

2015-05-15