Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Pde11a'

539142

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75819485-76169118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76168084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 290 (V290F)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

AlphaFold

P0C1Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099992
AA Change: V290F

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

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: V290F

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Cse1l	G	A	2: 166,771,797 (GRCm39)	V353I	possibly damaging	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	probably benign	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
R4604:Pde11a	UTSW	2	76,168,137 (GRCm39)	missense	possibly damaging	0.89
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
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'- TTCTGTCAAAGACGATACAACACTC -3'
(R):5'- TTGACCTCACCAGCCTAAGC -3'

Sequencing Primer
(F):5'- GACGATACAACACTCTAACAAAACTC -3'
(R):5'- AAGCTACAAGATCCTCATCTTTGTC -3'

Posted On

2018-11-06