Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Pde4d'

42071

Institutional Source

Beutler Lab

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

dunce, Dpde3, 9630011N22Rik

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0482 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109936710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 347 (V347I)

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
AA Change: V278I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: V278I

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
AA Change: V298I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: V298I

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
AA Change: V117I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: V117I

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
AA Change: V104I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: V104I

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
AA Change: V303I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: V303I

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
AA Change: V184I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: V184I

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
AA Change: V403I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: V403I

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
AA Change: V347I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: V347I

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
AA Change: V300I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: V300I

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

noncoding transcript
Transcript: ENSMUST00000151429

Predicted Effect

unknown
Transcript: ENSMUST00000153234
AA Change: V353I

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: V353I

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

probably benign
Transcript: ENSMUST00000177907
AA Change: V347I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: V347I

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: ENSMUST00000155459
AA Change: V67I

SMART Domains

Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699
AA Change: V67I

Domain	Start	End	E-Value	Type
Pfam:PDEase_I	121	189	2.6e-23	PFAM

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,988,423		probably null	Het
Abca13	G	A	11: 9,328,207	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534	I6M	probably benign	Het
Adcy4	T	A	14: 55,774,572		probably null	Het
Agrn	A	G	4: 156,173,555	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,359,195	N545S	probably benign	Het
Antxr1	C	T	6: 87,269,238		probably null	Het
Arhgef17	T	C	7: 100,880,621	K476E	probably damaging	Het
Bptf	T	C	11: 107,081,262	S927G	probably benign	Het
Cacna1s	C	T	1: 136,113,394	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,895,266	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,410,269		probably benign	Het
Celsr3	T	A	9: 108,829,073	Y918*	probably null	Het
Cep250	T	C	2: 155,964,974		probably benign	Het
Ces2h	A	G	8: 105,020,271	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,663,392	T53A	probably benign	Het
Cntnap2	C	T	6: 45,715,816	S77L	probably benign	Het
Cped1	A	T	6: 22,016,958	H102L	probably benign	Het
Crim1	T	A	17: 78,372,579	D916E	probably benign	Het
Csmd1	T	A	8: 16,233,101	I614F	probably damaging	Het
Csnk1g1	G	A	9: 66,010,469	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,871,190		probably null	Het
Cuzd1	A	T	7: 131,309,872		probably benign	Het
Cyp4f16	T	A	17: 32,550,551	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144	L75P	probably damaging	Het
Ddias	G	A	7: 92,859,528	A393V	probably benign	Het
Dgka	A	T	10: 128,734,121	Y123*	probably null	Het
Dlgap1	T	C	17: 70,516,190	C57R	probably benign	Het
Dysf	T	A	6: 84,152,405	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,462,347	Y1230N	probably damaging	Het
Fam160a2	G	A	7: 105,384,212	P599L	possibly damaging	Het
Fam46a	T	C	9: 85,325,055	Y230C	probably damaging	Het
Fbxl7	A	T	15: 26,543,546	S338R	probably benign	Het
Fgf23	A	T	6: 127,073,159	T44S	probably damaging	Het
Folh1	A	T	7: 86,746,101		probably benign	Het
Gpsm2	A	T	3: 108,702,394		probably benign	Het
Hdac2	T	A	10: 36,989,134		probably benign	Het
Hist1h2bl	A	G	13: 21,716,125		probably benign	Het
Il31ra	G	T	13: 112,527,481	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,370	L199H	probably benign	Het
Kif18a	T	A	2: 109,287,843	M1K	probably null	Het
Kif4-ps	A	C	12: 101,148,662	I1017L	probably benign	Het
Klhl2	C	T	8: 64,758,130	V295M	probably benign	Het
Krt75	A	T	15: 101,570,311	M296K	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lgr4	T	C	2: 110,008,092	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,174,610	N129K	probably damaging	Het
Lnx2	A	G	5: 147,018,961	V675A	probably damaging	Het
Med13	T	C	11: 86,285,151	T1673A	probably benign	Het
Mif	A	G	10: 75,860,140	V10A	possibly damaging	Het
Mki67	A	T	7: 135,699,429	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,404,583	N89K	probably benign	Het
Myo19	G	T	11: 84,909,419	D877Y	probably benign	Het
Nckap5	A	G	1: 126,026,365	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,965,192	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,553,459	Y233H	probably damaging	Het
Nsl1	T	A	1: 191,063,040	M1K	probably null	Het
Ntsr1	T	A	2: 180,501,056	S213R	possibly damaging	Het
Olfr1225	A	T	2: 89,170,631	F194I	probably benign	Het
Olfr48	A	G	2: 89,844,169	V268A	probably benign	Het
Olfr669	T	A	7: 104,938,814	F96Y	possibly damaging	Het
Pik3r4	T	A	9: 105,669,045	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,870,431	R136G	probably benign	Het
Proser2	A	C	2: 6,113,910	S41A	probably damaging	Het
Proz	A	T	8: 13,073,460	K244*	probably null	Het
Prpf38b	A	T	3: 108,905,270	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,184,517	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,240,323	D315A	probably damaging	Het
Rnf141	G	A	7: 110,837,138	R28*	probably null	Het
Rps6kc1	A	T	1: 190,799,430	S792T	probably benign	Het
Rxrg	A	G	1: 167,631,037	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,541,037	N114S	probably benign	Het
Slc25a38	T	C	9: 120,120,833	V205A	probably benign	Het
Slc4a10	T	C	2: 62,297,017		probably benign	Het
Spred1	T	A	2: 117,152,978		probably null	Het
Stt3b	A	G	9: 115,248,567	S706P	probably benign	Het
Tcerg1	C	A	18: 42,564,240		probably benign	Het
Thsd4	A	T	9: 60,002,978	I109N	probably damaging	Het
Ticrr	C	A	7: 79,694,488	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,239,429	D146G	probably damaging	Het
Tubd1	T	G	11: 86,557,776	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,175,374	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vcan	T	A	13: 89,678,145	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,702,791	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,634,277	A231T	probably damaging	Het
Vmn2r97	A	G	17: 18,947,668	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,983,228	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,897,606	V252D	probably damaging	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
IGL03286:Pde4d	APN	13	109954506	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTGTGTTTGACTGTTCACATGC -3'
(R):5'- CTTGAAGATTCTGTCCTGCCCCAG -3'

Sequencing Primer
(F):5'- GACTGTTCACATGCCATTTCC -3'
(R):5'- CTGTGAGCTGAAATGAATCCC -3'

Posted On

2013-05-23