Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Pde4d'

415713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

dunce, Dpde3, 9630011N22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 109954506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074103] [ENSMUST00000079975] [ENSMUST00000117420] [ENSMUST00000117879] [ENSMUST00000119507] [ENSMUST00000119672] [ENSMUST00000120664] [ENSMUST00000120671] [ENSMUST00000122041] [ENSMUST00000135275] [ENSMUST00000177907]

AlphaFold

Q01063

Predicted Effect

probably benign
Transcript: ENSMUST00000074103

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
HDc	329	504	1.12e-2	SMART
low complexity region	652	667	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079975

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	349	524	1.12e-2	SMART
low complexity region	672	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117420

SMART Domains

Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	168	343	1.12e-2	SMART
low complexity region	491	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117879

SMART Domains

Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	155	330	1.12e-2	SMART
low complexity region	478	493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119507

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	354	529	1.12e-2	SMART
low complexity region	677	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119672

Predicted Effect

probably benign
Transcript: ENSMUST00000120664

SMART Domains

Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	235	410	1.12e-2	SMART
low complexity region	558	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120671

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
low complexity region	45	84	N/A	INTRINSIC
HDc	454	629	1.12e-2	SMART
low complexity region	777	792	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122041

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	398	573	1.12e-2	SMART
low complexity region	721	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135275

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
HDc	351	526	1.12e-2	SMART
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177907

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
HDc	398	573	1.12e-2	SMART
low complexity region	721	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153234

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699

Domain	Start	End	E-Value	Type
PDB:1E9K\|A	22	59	9e-18	PDB
low complexity region	69	85	N/A	INTRINSIC
HDc	405	580	1.12e-2	SMART
low complexity region	728	743	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Pde4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pde4d	APN	13	109936687	missense	possibly damaging	0.69
IGL00792:Pde4d	APN	13	109935395	missense	possibly damaging	0.85
IGL01014:Pde4d	APN	13	109949502	missense	probably damaging	1.00
IGL01660:Pde4d	APN	13	109938072	missense	probably damaging	1.00
IGL02233:Pde4d	APN	13	109740550	missense	probably damaging	1.00
IGL02405:Pde4d	APN	13	108860209	critical splice donor site	probably null
IGL02544:Pde4d	APN	13	109740523	missense	probably damaging	1.00
IGL02885:Pde4d	APN	13	109948261	missense	probably damaging	1.00
IGL03406:Pde4d	APN	13	109954591	unclassified	probably benign
Heliosphere	UTSW	13	109116942	missense	probably benign
Stubbs	UTSW	13	109772722	intron	probably benign
IGL03055:Pde4d	UTSW	13	109935345	missense	probably damaging	1.00
R0020:Pde4d	UTSW	13	109954570	missense	possibly damaging	0.66
R0020:Pde4d	UTSW	13	109954570	missense	possibly damaging	0.66
R0054:Pde4d	UTSW	13	109740421	missense	probably benign	0.23
R0054:Pde4d	UTSW	13	109740421	missense	probably benign	0.23
R0357:Pde4d	UTSW	13	109951268	missense	possibly damaging	0.46
R0482:Pde4d	UTSW	13	109936710	missense	probably benign	0.00
R0689:Pde4d	UTSW	13	109740544	missense	possibly damaging	0.78
R0884:Pde4d	UTSW	13	109950940	missense	probably damaging	0.99
R1169:Pde4d	UTSW	13	109950928	splice site	probably null
R1225:Pde4d	UTSW	13	109950221	missense	probably benign	0.04
R1246:Pde4d	UTSW	13	109950973	missense	probably damaging	1.00
R1344:Pde4d	UTSW	13	109950387	nonsense	probably null
R1351:Pde4d	UTSW	13	109951275	missense	possibly damaging	0.46
R1371:Pde4d	UTSW	13	109117061	missense	probably benign	0.00
R1418:Pde4d	UTSW	13	109950387	nonsense	probably null
R2197:Pde4d	UTSW	13	109948390	missense	probably damaging	1.00
R2440:Pde4d	UTSW	13	109927197	intron	probably benign
R3114:Pde4d	UTSW	13	109948258	missense	probably damaging	1.00
R3115:Pde4d	UTSW	13	109948258	missense	probably damaging	1.00
R3722:Pde4d	UTSW	13	109951332	nonsense	probably null
R3742:Pde4d	UTSW	13	109740479	missense	probably benign	0.42
R3797:Pde4d	UTSW	13	109632897	missense	probably benign	0.29
R3983:Pde4d	UTSW	13	109740406	missense	probably benign	0.23
R4618:Pde4d	UTSW	13	109933877	missense	probably benign	0.13
R4768:Pde4d	UTSW	13	109933874	missense	probably damaging	1.00
R4795:Pde4d	UTSW	13	109938171	intron	probably benign
R4824:Pde4d	UTSW	13	109116866	missense	probably benign	0.00
R4942:Pde4d	UTSW	13	108860199	missense	probably benign	0.00
R4984:Pde4d	UTSW	13	109740464	missense	probably damaging	1.00
R5180:Pde4d	UTSW	13	109740473	missense	probably benign	0.13
R5267:Pde4d	UTSW	13	109260809	intron	probably benign
R5311:Pde4d	UTSW	13	109632864	missense	probably benign	0.02
R5311:Pde4d	UTSW	13	109632865	missense	probably benign
R5376:Pde4d	UTSW	13	109772644	missense	probably benign	0.00
R5551:Pde4d	UTSW	13	109948396	critical splice donor site	probably null
R5753:Pde4d	UTSW	13	109772722	intron	probably benign
R5754:Pde4d	UTSW	13	109938013	missense	probably damaging	0.98
R5838:Pde4d	UTSW	13	109740442	missense	probably damaging	0.99
R5864:Pde4d	UTSW	13	109938048	missense	probably benign	0.00
R6039:Pde4d	UTSW	13	109948342	missense	probably damaging	1.00
R6039:Pde4d	UTSW	13	109948342	missense	probably damaging	1.00
R6049:Pde4d	UTSW	13	109032585	nonsense	probably null
R6214:Pde4d	UTSW	13	109949433	missense	probably damaging	1.00
R6215:Pde4d	UTSW	13	109949433	missense	probably damaging	1.00
R6273:Pde4d	UTSW	13	109950221	missense	possibly damaging	0.94
R6431:Pde4d	UTSW	13	109601786	splice site	probably null
R6501:Pde4d	UTSW	13	109116942	missense	probably benign
R6534:Pde4d	UTSW	13	109632901	missense	probably benign	0.05
R6709:Pde4d	UTSW	13	109948279	missense	probably damaging	1.00
R6722:Pde4d	UTSW	13	109632898	nonsense	probably null
R7164:Pde4d	UTSW	13	109032688	missense	probably benign
R7222:Pde4d	UTSW	13	109757579	missense	probably damaging	1.00
R7417:Pde4d	UTSW	13	109632788	splice site	probably null
R7489:Pde4d	UTSW	13	109116767	missense	unknown
R7563:Pde4d	UTSW	13	109951007	missense	probably benign	0.37
R7861:Pde4d	UTSW	13	109935324	missense	probably damaging	0.99
R8167:Pde4d	UTSW	13	109442321	missense	probably benign	0.00
R8197:Pde4d	UTSW	13	109948336	missense	probably damaging	1.00
R8469:Pde4d	UTSW	13	108860188	missense	probably benign
R8715:Pde4d	UTSW	13	109935342	missense	probably benign	0.29
R8926:Pde4d	UTSW	13	109938091	missense	probably benign	0.00
R9054:Pde4d	UTSW	13	109935390	missense	probably damaging	0.96
R9406:Pde4d	UTSW	13	109740530	missense	probably damaging	0.99
R9516:Pde4d	UTSW	13	109260662	missense
R9526:Pde4d	UTSW	13	109935381	missense	probably damaging	1.00

Posted On

2016-08-02