Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02405:Pde4d'

292054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

9630011N22Rik, dunce, Dpde3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02405

Quality Score

Status

Chromosome

Chromosomal Location

108790711-110092503 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108996743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122041] [ENSMUST00000177907]

AlphaFold

Q01063

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000133929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151111

Predicted Effect

probably null
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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,498,036 (GRCm39)	S1434P	possibly damaging	Het
Abcc12	G	T	8: 87,284,782 (GRCm39)	Q278K	probably damaging	Het
Adk	A	G	14: 21,153,899 (GRCm39)	K48R	probably benign	Het
Atp8b3	C	T	10: 80,366,462 (GRCm39)	G267D	probably damaging	Het
Bpifa6	T	A	2: 153,832,782 (GRCm39)	L299*	probably null	Het
Cblb	G	A	16: 51,986,616 (GRCm39)	A620T	probably benign	Het
Cep128	C	T	12: 91,233,760 (GRCm39)	R436H	probably benign	Het
Chd4	A	G	6: 125,074,190 (GRCm39)	D21G	probably benign	Het
Cnksr1	T	C	4: 133,963,592 (GRCm39)	D30G	possibly damaging	Het
Crybb2	A	G	5: 113,206,374 (GRCm39)	Y154H	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhx57	A	T	17: 80,562,979 (GRCm39)		probably null	Het
Eri2	T	C	7: 119,384,705 (GRCm39)	R599G	probably damaging	Het
Fcrl1	A	C	3: 87,293,074 (GRCm39)	K244Q	probably damaging	Het
Gm11992	A	G	11: 9,009,939 (GRCm39)	N179S	probably benign	Het
Hgfac	A	G	5: 35,201,824 (GRCm39)	D319G	probably benign	Het
Irf5	G	A	6: 29,535,760 (GRCm39)	R258H	probably damaging	Het
Mecr	G	A	4: 131,590,303 (GRCm39)		probably null	Het
Obscn	T	G	11: 59,023,428 (GRCm39)	K650Q	probably damaging	Het
Or5b98	A	G	19: 12,931,823 (GRCm39)	Y290C	probably damaging	Het
Saxo4	G	A	19: 10,451,930 (GRCm39)	T406I	probably damaging	Het
Serpinh1	A	G	7: 98,996,541 (GRCm39)	M217T	possibly damaging	Het
Setbp1	A	T	18: 78,900,514 (GRCm39)	M1051K	probably damaging	Het
Slc43a3	A	G	2: 84,768,585 (GRCm39)	E68G	probably damaging	Het
Supt5	T	C	7: 28,015,249 (GRCm39)	N969D	probably benign	Het
Taf2	A	T	15: 54,897,551 (GRCm39)		probably benign	Het
Tlr2	A	G	3: 83,743,981 (GRCm39)	F701L	probably damaging	Het
Trim46	T	C	3: 89,149,792 (GRCm39)	T222A	probably benign	Het
Tshz3	A	T	7: 36,469,075 (GRCm39)	N355Y	possibly damaging	Het
Vmn2r3	A	G	3: 64,178,620 (GRCm39)		probably benign	Het
Xkr9	A	T	1: 13,742,997 (GRCm39)		probably benign	Het
Zfhx3	C	T	8: 109,682,374 (GRCm39)	A3271V	unknown	Het

Other mutations in Pde4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pde4d	APN	13	110,073,221 (GRCm39)	missense	possibly damaging	0.69
IGL00792:Pde4d	APN	13	110,071,929 (GRCm39)	missense	possibly damaging	0.85
IGL01014:Pde4d	APN	13	110,086,036 (GRCm39)	missense	probably damaging	1.00
IGL01660:Pde4d	APN	13	110,074,606 (GRCm39)	missense	probably damaging	1.00
IGL02233:Pde4d	APN	13	109,877,084 (GRCm39)	missense	probably damaging	1.00
IGL02544:Pde4d	APN	13	109,877,057 (GRCm39)	missense	probably damaging	1.00
IGL02885:Pde4d	APN	13	110,084,795 (GRCm39)	missense	probably damaging	1.00
IGL03286:Pde4d	APN	13	110,091,040 (GRCm39)	unclassified	probably benign
IGL03406:Pde4d	APN	13	110,091,125 (GRCm39)	unclassified	probably benign
Heliosphere	UTSW	13	109,253,476 (GRCm39)	missense	probably benign
Stubbs	UTSW	13	109,909,256 (GRCm39)	intron	probably benign
IGL03055:Pde4d	UTSW	13	110,071,879 (GRCm39)	missense	probably damaging	1.00
R0020:Pde4d	UTSW	13	110,091,104 (GRCm39)	missense	possibly damaging	0.66
R0020:Pde4d	UTSW	13	110,091,104 (GRCm39)	missense	possibly damaging	0.66
R0054:Pde4d	UTSW	13	109,876,955 (GRCm39)	missense	probably benign	0.23
R0054:Pde4d	UTSW	13	109,876,955 (GRCm39)	missense	probably benign	0.23
R0357:Pde4d	UTSW	13	110,087,802 (GRCm39)	missense	possibly damaging	0.46
R0482:Pde4d	UTSW	13	110,073,244 (GRCm39)	missense	probably benign	0.00
R0689:Pde4d	UTSW	13	109,877,078 (GRCm39)	missense	possibly damaging	0.78
R0884:Pde4d	UTSW	13	110,087,474 (GRCm39)	missense	probably damaging	0.99
R1169:Pde4d	UTSW	13	110,087,462 (GRCm39)	splice site	probably null
R1225:Pde4d	UTSW	13	110,086,755 (GRCm39)	missense	probably benign	0.04
R1246:Pde4d	UTSW	13	110,087,507 (GRCm39)	missense	probably damaging	1.00
R1344:Pde4d	UTSW	13	110,086,921 (GRCm39)	nonsense	probably null
R1351:Pde4d	UTSW	13	110,087,809 (GRCm39)	missense	possibly damaging	0.46
R1371:Pde4d	UTSW	13	109,253,595 (GRCm39)	missense	probably benign	0.00
R1418:Pde4d	UTSW	13	110,086,921 (GRCm39)	nonsense	probably null
R2197:Pde4d	UTSW	13	110,084,924 (GRCm39)	missense	probably damaging	1.00
R2440:Pde4d	UTSW	13	110,063,731 (GRCm39)	intron	probably benign
R3114:Pde4d	UTSW	13	110,084,792 (GRCm39)	missense	probably damaging	1.00
R3115:Pde4d	UTSW	13	110,084,792 (GRCm39)	missense	probably damaging	1.00
R3722:Pde4d	UTSW	13	110,087,866 (GRCm39)	nonsense	probably null
R3742:Pde4d	UTSW	13	109,877,013 (GRCm39)	missense	probably benign	0.42
R3797:Pde4d	UTSW	13	109,769,431 (GRCm39)	missense	probably benign	0.29
R3983:Pde4d	UTSW	13	109,876,940 (GRCm39)	missense	probably benign	0.23
R4618:Pde4d	UTSW	13	110,070,411 (GRCm39)	missense	probably benign	0.13
R4768:Pde4d	UTSW	13	110,070,408 (GRCm39)	missense	probably damaging	1.00
R4795:Pde4d	UTSW	13	110,074,705 (GRCm39)	intron	probably benign
R4824:Pde4d	UTSW	13	109,253,400 (GRCm39)	missense	probably benign	0.00
R4942:Pde4d	UTSW	13	108,996,733 (GRCm39)	missense	probably benign	0.00
R4984:Pde4d	UTSW	13	109,876,998 (GRCm39)	missense	probably damaging	1.00
R5180:Pde4d	UTSW	13	109,877,007 (GRCm39)	missense	probably benign	0.13
R5267:Pde4d	UTSW	13	109,397,343 (GRCm39)	intron	probably benign
R5311:Pde4d	UTSW	13	109,769,399 (GRCm39)	missense	probably benign
R5311:Pde4d	UTSW	13	109,769,398 (GRCm39)	missense	probably benign	0.02
R5376:Pde4d	UTSW	13	109,909,178 (GRCm39)	missense	probably benign	0.00
R5551:Pde4d	UTSW	13	110,084,930 (GRCm39)	critical splice donor site	probably null
R5753:Pde4d	UTSW	13	109,909,256 (GRCm39)	intron	probably benign
R5754:Pde4d	UTSW	13	110,074,547 (GRCm39)	missense	probably damaging	0.98
R5838:Pde4d	UTSW	13	109,876,976 (GRCm39)	missense	probably damaging	0.99
R5864:Pde4d	UTSW	13	110,074,582 (GRCm39)	missense	probably benign	0.00
R6039:Pde4d	UTSW	13	110,084,876 (GRCm39)	missense	probably damaging	1.00
R6039:Pde4d	UTSW	13	110,084,876 (GRCm39)	missense	probably damaging	1.00
R6049:Pde4d	UTSW	13	109,169,119 (GRCm39)	nonsense	probably null
R6214:Pde4d	UTSW	13	110,085,967 (GRCm39)	missense	probably damaging	1.00
R6215:Pde4d	UTSW	13	110,085,967 (GRCm39)	missense	probably damaging	1.00
R6273:Pde4d	UTSW	13	110,086,755 (GRCm39)	missense	possibly damaging	0.94
R6431:Pde4d	UTSW	13	109,738,320 (GRCm39)	splice site	probably null
R6501:Pde4d	UTSW	13	109,253,476 (GRCm39)	missense	probably benign
R6534:Pde4d	UTSW	13	109,769,435 (GRCm39)	missense	probably benign	0.05
R6709:Pde4d	UTSW	13	110,084,813 (GRCm39)	missense	probably damaging	1.00
R6722:Pde4d	UTSW	13	109,769,432 (GRCm39)	nonsense	probably null
R7164:Pde4d	UTSW	13	109,169,222 (GRCm39)	missense	probably benign
R7222:Pde4d	UTSW	13	109,894,113 (GRCm39)	missense	probably damaging	1.00
R7417:Pde4d	UTSW	13	109,769,322 (GRCm39)	splice site	probably null
R7489:Pde4d	UTSW	13	109,253,301 (GRCm39)	missense	unknown
R7563:Pde4d	UTSW	13	110,087,541 (GRCm39)	missense	probably benign	0.37
R7861:Pde4d	UTSW	13	110,071,858 (GRCm39)	missense	probably damaging	0.99
R8167:Pde4d	UTSW	13	109,578,855 (GRCm39)	missense	probably benign	0.00
R8197:Pde4d	UTSW	13	110,084,870 (GRCm39)	missense	probably damaging	1.00
R8469:Pde4d	UTSW	13	108,996,722 (GRCm39)	missense	probably benign
R8715:Pde4d	UTSW	13	110,071,876 (GRCm39)	missense	probably benign	0.29
R8926:Pde4d	UTSW	13	110,074,625 (GRCm39)	missense	probably benign	0.00
R9054:Pde4d	UTSW	13	110,071,924 (GRCm39)	missense	probably damaging	0.96
R9406:Pde4d	UTSW	13	109,877,064 (GRCm39)	missense	probably damaging	0.99
R9516:Pde4d	UTSW	13	109,397,196 (GRCm39)	missense
R9526:Pde4d	UTSW	13	110,071,915 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16