Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Pde11a'

232148

Institutional Source

Beutler Lab

Gene Symbol

Pde11a

Ensembl Gene

ENSMUSG00000075270

Gene Name

phosphodiesterase 11A

Synonyms

A630086N24Rik, 6330414F14Rik

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

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

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75819485-76169118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76168266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 229 (V229A)

Ref Sequence

ENSEMBL: ENSMUSP00000097572 (fasta)

Gene Model

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

AlphaFold

P0C1Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099992
AA Change: V229A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: V229A

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

0.1146

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	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
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
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'- TAGGCATCCGGGATGTTAAC -3'
(R):5'- ACATTCTAAGTGCCCTGCTGG -3'

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

Posted On

2014-09-18