Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Pde4d'

688582

Institutional Source

Beutler Lab

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

dunce, Dpde3, 9630011N22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109935390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 306 (V306A)

Ref Sequence

ENSEMBL: ENSMUSP00000113488 (fasta)

Gene Model

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

AlphaFold

Q01063

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074103
AA Change: V237A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: V237A

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: V257A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: V257A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117420
AA Change: V76A

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: V76A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117879
AA Change: V63A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: V63A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119507
AA Change: V262A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: V262A

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 damaging
Transcript: ENSMUST00000120664
AA Change: V143A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: V143A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120671
AA Change: V362A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: V362A

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: V306A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: V306A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135275
AA Change: V259A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: V259A

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

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: V312A

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

SMART Domains

Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699
AA Change: V26A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177907
AA Change: V306A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: V306A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,553,674	D641E	probably benign	Het
Anln	A	G	9: 22,360,820		probably null	Het
Areg	A	T	5: 91,144,358	E172D	probably damaging	Het
Ccdc51	A	T	9: 109,089,414	T24S	probably benign	Het
Cckar	A	T	5: 53,703,082	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,483,477		probably benign	Het
Cep295	T	C	9: 15,324,255	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,757,255	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,942,266	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,634,279	I406F	probably benign	Het
Eml4	T	A	17: 83,427,211		probably benign	Het
Fkrp	G	T	7: 16,810,644	T431K	probably damaging	Het
Fsip2	A	T	2: 82,975,836	Y833F	possibly damaging	Het
Galnt2	T	C	8: 124,332,098		probably null	Het
Gm13101	T	C	4: 143,965,744	Q229R	probably benign	Het
Gm8180	T	A	14: 43,782,349		probably null	Het
Gm8882	G	C	6: 132,361,893	Q121E	unknown	Het
Hcn1	T	C	13: 117,971,635	S552P	unknown	Het
Ifit1	A	C	19: 34,648,487	E341A	possibly damaging	Het
Iyd	A	G	10: 3,540,250		probably benign	Het
Krt72	A	T	15: 101,786,401	S20T	probably damaging	Het
Lemd2	G	T	17: 27,204,095	D108E	probably benign	Het
Lipn	A	T	19: 34,076,976	I205F	possibly damaging	Het
Nat1	G	T	8: 67,491,071	R36L	probably benign	Het
Nebl	A	T	2: 17,411,096	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,386,783	N502I	probably damaging	Het
Nrp1	G	A	8: 128,487,908	V626I	probably benign	Het
Olfr160	C	T	9: 37,711,908	V124M	probably damaging	Het
Olfr692	A	G	7: 105,368,473	Y49C	probably damaging	Het
Oprm1	G	A	10: 6,823,914		probably benign	Het
Pde2a	A	G	7: 101,507,720	Y637C	probably damaging	Het
Pdzd9	G	A	7: 120,670,275		probably benign	Het
Pitpnm3	T	A	11: 72,056,191	D810V	probably damaging	Het
Pkd1l3	A	T	8: 109,665,672	H1966L	probably benign	Het
Pmfbp1	C	T	8: 109,521,029	T319I	possibly damaging	Het
Psg18	T	A	7: 18,353,525	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,460,640	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,402,716	T105A	probably benign	Het
Rbm12	A	T	2: 156,095,561	D930E	unknown	Het
Rlf	A	C	4: 121,150,587	S509A	possibly damaging	Het
Slc39a3	C	A	10: 81,033,665	G53C	probably damaging	Het
Smchd1	G	A	17: 71,363,022	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,340,408	E52A	unknown	Het
Stat1	A	G	1: 52,142,927	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,546,149	E64G	probably benign	Het
Ttll11	A	T	2: 35,979,380	V82D	probably benign	Het
Ttn	T	A	2: 76,740,633	T26639S	probably damaging	Het
Usp53	A	T	3: 122,934,076	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,383,554	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,391	D166N	probably damaging	Het
Zfp954	C	A	7: 7,116,098	C149F	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
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
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
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'- TGAGCAGTTACGGTTGGTCC -3'
(R):5'- ACAGTCTCACTATGTAGTTCCTG -3'

Sequencing Primer
(F):5'- CAGTTACGGTTGGTCCATTTATATG -3'
(R):5'- GGAACTACACTGGAGTCTCACTATG -3'

Posted On

2021-11-19