Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Pde4d'

580435

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 #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109116767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 43 (L43I)

Ref Sequence

ENSEMBL: ENSMUSP00000112991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120671] [ENSMUST00000122041] [ENSMUST00000177907]

AlphaFold

Q01063

Predicted Effect

unknown
Transcript: ENSMUST00000120671
AA Change: L43I

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: L43I

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: 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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,627,234	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,170,299	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 114,879,625	S166P	unknown	Het
Adgrb3	G	A	1: 25,547,505	T369I	probably damaging	Het
Agbl4	T	C	4: 111,526,658	S237P	probably damaging	Het
Ahi1	T	C	10: 20,963,750	C187R	probably benign	Het
Akap9	C	T	5: 4,004,933	T1626M	probably damaging	Het
Alas1	A	T	9: 106,241,634		probably null	Het
Apbb1	G	T	7: 105,567,480	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,358	V679A	probably benign	Het
Atp2a2	T	C	5: 122,467,767	D375G	probably benign	Het
Best1	A	G	19: 9,997,046	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,944,004	T21P	probably damaging	Het
Btbd11	T	A	10: 85,627,215	Y615N	probably damaging	Het
Cdx2	A	T	5: 147,306,672	M104K	probably benign	Het
Ces1d	A	T	8: 93,178,131	L327Q	probably damaging	Het
Ces2e	A	G	8: 104,929,780	H214R	probably benign	Het
Chd5	G	A	4: 152,373,468	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,091,838	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,533,312	V110A	probably damaging	Het
Fam71b	G	C	11: 46,407,441	G524A		Het
Fancd2	T	C	6: 113,564,304	S724P	probably benign	Het
Galnt1	T	A	18: 24,282,157	V485D	probably damaging	Het
Gli2	A	G	1: 118,838,175	S749P	probably benign	Het
H2-M5	A	C	17: 36,989,471	L12V	unknown	Het
Iqcf6	C	A	9: 106,627,457	Q107K	probably benign	Het
Itfg1	C	T	8: 85,767,001	C283Y	probably damaging	Het
Jak3	A	C	8: 71,684,292	K704T	probably damaging	Het
Kl	A	T	5: 150,952,996	T94S	probably damaging	Het
Krt73	A	C	15: 101,793,859	V523G	probably benign	Het
Lap3	T	C	5: 45,500,506	F215L	probably damaging	Het
Lce1c	G	A	3: 92,680,647	C127Y	unknown	Het
Map6	C	T	7: 99,268,061	R14C	probably damaging	Het
Mcm10	T	A	2: 5,001,301	K410M	probably damaging	Het
Med23	T	A	10: 24,904,356	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,387	T131S	probably benign	Het
Ms4a14	T	C	19: 11,302,031	I1054M	probably benign	Het
Mup14	A	G	4: 61,303,888	M1T	probably null	Het
Myzap	T	A	9: 71,561,038	T110S	probably benign	Het
Nmrk1	A	T	19: 18,642,242	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,642,243	K153N	possibly damaging	Het
Olfr1267-ps1	T	A	2: 90,086,360	M34L	probably benign	Het
Olfr814	A	T	10: 129,874,682	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,281,789	H761R	possibly damaging	Het
Prrc2a	A	T	17: 35,162,354	S46R	unknown	Het
Rab19	A	G	6: 39,388,105	T100A	probably benign	Het
Rad51b	C	T	12: 79,300,585	R8*	probably null	Het
Sclt1	A	T	3: 41,629,597	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,949,176	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,366,702	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,883,916	C511F	probably damaging	Het
Sspo	T	C	6: 48,473,713	L2612P	probably damaging	Het
Synrg	C	T	11: 83,990,825	T329I	probably benign	Het
Tdrd9	A	G	12: 112,067,637	T1338A	probably benign	Het
Tenm4	A	T	7: 96,837,314	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,560,517	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,656,359	I374M	probably benign	Het
Trip10	A	T	17: 57,250,966	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,544	D735E	probably benign	Het
Trpm8	T	A	1: 88,379,759	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,226,021	D431V	probably damaging	Het
Ucn2	C	T	9: 108,986,254	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,843,892	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,797,656	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,525,560	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 55,866,158	H228Q	probably damaging	Het
Zfr	T	A	15: 12,152,982	H566Q	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
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'- CTACAAGTCGGAAGCTGAGC -3'
(R):5'- ATCCTAGATTTCTTCAGGCCCG -3'

Sequencing Primer
(F):5'- CGCTCAGGCTGGTGTGG -3'
(R):5'- TACAGGTAGCGCTCGGTGTC -3'

Posted On

2019-10-07