Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Pde11a'

345839

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75819485-76169118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76168137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 272 (T272K)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

AlphaFold

P0C1Q2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099992
AA Change: T272K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: T272K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Col22a1	G	T	15: 71,824,188 (GRCm39)	P569T	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,547,007 (GRCm39)	W356R	probably damaging	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prkag2	T	A	5: 25,083,732 (GRCm39)	I84F	probably damaging	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,462,887 (GRCm39)	V337A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Timm50	A	G	7: 28,010,443 (GRCm39)	V37A	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	probably null	Het

Other mutations in Pde11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pde11a	APN	2	76,045,729 (GRCm39)	missense	probably damaging	1.00
IGL01528:Pde11a	APN	2	76,025,300 (GRCm39)	splice site	probably benign
IGL02117:Pde11a	APN	2	75,821,606 (GRCm39)	missense	probably damaging	1.00
IGL02428:Pde11a	APN	2	75,877,189 (GRCm39)	missense	possibly damaging	0.68
IGL02455:Pde11a	APN	2	75,988,737 (GRCm39)	missense	possibly damaging	0.58
IGL02731:Pde11a	APN	2	75,821,583 (GRCm39)	missense	probably benign	0.00
IGL03068:Pde11a	APN	2	75,848,208 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pde11a	APN	2	75,906,274 (GRCm39)	splice site	probably benign
D4186:Pde11a	UTSW	2	76,121,634 (GRCm39)	missense	probably damaging	1.00
R0323:Pde11a	UTSW	2	75,877,118 (GRCm39)	splice site	probably null
R0433:Pde11a	UTSW	2	76,168,050 (GRCm39)	missense	possibly damaging	0.47
R1226:Pde11a	UTSW	2	75,988,698 (GRCm39)	missense	probably benign	0.10
R1542:Pde11a	UTSW	2	75,877,199 (GRCm39)	missense	probably benign	0.25
R1941:Pde11a	UTSW	2	76,121,594 (GRCm39)	missense	probably benign	0.10
R2107:Pde11a	UTSW	2	76,168,266 (GRCm39)	missense	probably damaging	1.00
R2394:Pde11a	UTSW	2	75,889,405 (GRCm39)	missense	probably benign	0.00
R3689:Pde11a	UTSW	2	76,121,510 (GRCm39)	missense	probably damaging	1.00
R3690:Pde11a	UTSW	2	76,121,510 (GRCm39)	missense	probably damaging	1.00
R3945:Pde11a	UTSW	2	75,906,275 (GRCm39)	splice site	probably benign
R4073:Pde11a	UTSW	2	76,168,242 (GRCm39)	missense	probably damaging	1.00
R4074:Pde11a	UTSW	2	76,168,242 (GRCm39)	missense	probably damaging	1.00
R4588:Pde11a	UTSW	2	75,859,647 (GRCm39)	missense	probably damaging	1.00
R4602:Pde11a	UTSW	2	75,988,677 (GRCm39)	missense	probably benign	0.05
R4609:Pde11a	UTSW	2	76,121,585 (GRCm39)	missense	possibly damaging	0.94
R4610:Pde11a	UTSW	2	75,988,677 (GRCm39)	missense	probably benign	0.05
R5017:Pde11a	UTSW	2	75,966,711 (GRCm39)	missense	probably benign	0.05
R5519:Pde11a	UTSW	2	75,906,299 (GRCm39)	missense	probably damaging	1.00
R5930:Pde11a	UTSW	2	75,970,175 (GRCm39)	splice site	probably null
R6000:Pde11a	UTSW	2	75,848,204 (GRCm39)	missense	probably damaging	0.98
R6018:Pde11a	UTSW	2	75,848,194 (GRCm39)	missense	probably benign	0.00
R6913:Pde11a	UTSW	2	76,168,084 (GRCm39)	missense	probably damaging	1.00
R7117:Pde11a	UTSW	2	75,906,348 (GRCm39)	missense	probably damaging	1.00
R7258:Pde11a	UTSW	2	75,970,250 (GRCm39)	missense	possibly damaging	0.91
R7267:Pde11a	UTSW	2	76,168,189 (GRCm39)	missense	probably damaging	1.00
R7409:Pde11a	UTSW	2	75,836,328 (GRCm39)	missense
R7451:Pde11a	UTSW	2	75,853,117 (GRCm39)	missense	possibly damaging	0.89
R7452:Pde11a	UTSW	2	75,966,758 (GRCm39)	missense	probably damaging	1.00
R7598:Pde11a	UTSW	2	75,966,767 (GRCm39)	missense	probably damaging	1.00
R7671:Pde11a	UTSW	2	76,045,697 (GRCm39)	missense	possibly damaging	0.81
R7886:Pde11a	UTSW	2	76,121,547 (GRCm39)	missense	probably benign
R8045:Pde11a	UTSW	2	75,853,072 (GRCm39)	missense	probably damaging	0.99
R8137:Pde11a	UTSW	2	76,041,383 (GRCm39)	missense	possibly damaging	0.91
R8420:Pde11a	UTSW	2	75,889,354 (GRCm39)	missense	probably damaging	1.00
R8716:Pde11a	UTSW	2	75,848,238 (GRCm39)	missense	probably damaging	0.97
R8730:Pde11a	UTSW	2	75,889,334 (GRCm39)	missense	probably damaging	1.00
R8816:Pde11a	UTSW	2	76,121,577 (GRCm39)	missense	probably benign	0.00
R8869:Pde11a	UTSW	2	76,041,434 (GRCm39)	missense	probably benign	0.02
R9023:Pde11a	UTSW	2	75,966,803 (GRCm39)	missense	probably damaging	1.00
R9202:Pde11a	UTSW	2	75,853,077 (GRCm39)	nonsense	probably null
R9301:Pde11a	UTSW	2	75,848,217 (GRCm39)	missense	probably damaging	1.00
R9470:Pde11a	UTSW	2	75,821,612 (GRCm39)	missense	probably benign
R9570:Pde11a	UTSW	2	75,877,157 (GRCm39)	missense	probably damaging	1.00
R9728:Pde11a	UTSW	2	76,121,608 (GRCm39)	missense	probably damaging	1.00
Z1176:Pde11a	UTSW	2	76,025,249 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCCTGGTGGTCAAAGGATGAG -3'
(R):5'- GGCCATCGACTACAAATGCC -3'

Sequencing Primer
(F):5'- TGAGGGAAGGCATGGCTG -3'
(R):5'- CTGGAACTGGTCAAGGACATCTC -3'

Posted On

2015-09-25