Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02233:Pde4d'

285817

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 #

IGL02233

Quality Score

Status

Chromosome

Chromosomal Location

108790711-110092503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109877084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 202 (S202P)

Ref Sequence

ENSEMBL: ENSMUSP00000112991 (fasta)

Gene Model

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

AlphaFold

Q01063

Predicted Effect

probably damaging
Transcript: ENSMUST00000074103
AA Change: S77P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: S77P

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 damaging
Transcript: ENSMUST00000079975
AA Change: S97P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: S97P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119507
AA Change: S102P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: S102P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120671
AA Change: S202P

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

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: S202P

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 damaging
Transcript: ENSMUST00000122041
AA Change: S146P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: S146P

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: ENSMUST00000134973

Predicted Effect

probably damaging
Transcript: ENSMUST00000135275
AA Change: S99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: S99P

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 damaging
Transcript: ENSMUST00000177907
AA Change: S146P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: S146P

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

Predicted Effect

unknown
Transcript: ENSMUST00000153234
AA Change: S152P

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: S152P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138938

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,165,170 (GRCm39)	Q1581*	probably null	Het
Abcc10	A	T	17: 46,635,085 (GRCm39)		probably null	Het
Adam25	A	G	8: 41,208,423 (GRCm39)	Y563C	probably damaging	Het
Cnr2	T	A	4: 135,644,522 (GRCm39)	I200N	possibly damaging	Het
Col5a2	T	C	1: 45,422,747 (GRCm39)		probably null	Het
Cpa2	T	C	6: 30,557,666 (GRCm39)		probably benign	Het
Dis3l2	T	C	1: 86,917,953 (GRCm39)	V534A	probably damaging	Het
Dlg2	A	T	7: 92,093,746 (GRCm39)	D845V	probably damaging	Het
Dnah8	T	C	17: 30,925,487 (GRCm39)		probably null	Het
Ephb4	T	A	5: 137,352,763 (GRCm39)	Y115*	probably null	Het
Evc2	A	G	5: 37,535,681 (GRCm39)	Y452C	probably damaging	Het
Fbn1	A	G	2: 125,163,530 (GRCm39)		probably benign	Het
Gm5134	A	T	10: 75,844,334 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,184 (GRCm39)	T249A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,308 (GRCm39)	T91A	probably benign	Het
Lin9	C	A	1: 180,516,865 (GRCm39)	A535E	probably damaging	Het
Muc1	G	A	3: 89,138,935 (GRCm39)	V515I	probably benign	Het
Mup3	A	G	4: 62,003,016 (GRCm39)	I170T	probably damaging	Het
Myo1e	T	C	9: 70,291,081 (GRCm39)		probably benign	Het
Or3a1d	A	G	11: 74,238,254 (GRCm39)	V52A	possibly damaging	Het
Or8b50	A	G	9: 38,518,538 (GRCm39)	Y259C	probably damaging	Het
Pomt2	A	G	12: 87,158,185 (GRCm39)	V676A	probably benign	Het
Rasl10a	C	A	11: 5,008,333 (GRCm39)	L10M	probably damaging	Het
Rilp	T	C	11: 75,403,538 (GRCm39)	Y327H	probably damaging	Het
Sec23ip	A	G	7: 128,380,903 (GRCm39)	S957G	probably damaging	Het
Srbd1	T	C	17: 86,406,050 (GRCm39)		probably null	Het
Thsd7a	T	C	6: 12,555,257 (GRCm39)	H209R	probably benign	Het
Trav14-3	T	C	14: 54,000,643 (GRCm39)		probably benign	Het
Vipr2	A	G	12: 116,058,356 (GRCm39)	N91S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	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
IGL02405:Pde4d	APN	13	108,996,743 (GRCm39)	critical splice donor site	probably null
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