Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Pde4d'

605504

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 #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 109632788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119583 (fasta)

Gene Model

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

AlphaFold

Q01063

Predicted Effect

probably benign
Transcript: ENSMUST00000079975

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699

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: ENSMUST00000119507

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699

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: ENSMUST00000120671

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699

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 null
Transcript: ENSMUST00000135275

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699

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 benign
Transcript: ENSMUST00000153234

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,152,889	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,417,365		probably null	Het
Aldh6a1	T	C	12: 84,441,782	Q110R	probably benign	Het
Alg11	A	T	8: 22,062,028	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,476,194	Y271H	probably damaging	Het
Ano8	T	A	8: 71,480,833	D605V	unknown	Het
Best2	C	T	8: 85,009,666		probably null	Het
Brca1	A	G	11: 101,524,981	S776P	probably damaging	Het
Capn7	T	C	14: 31,370,706	Y737H	probably damaging	Het
Cblc	A	T	7: 19,788,974	S333T	probably benign	Het
Ccm2	T	A	11: 6,593,091	M257K	probably benign	Het
Cd320	T	A	17: 33,847,556	C103*	probably null	Het
Cd53	A	G	3: 106,768,919	F44S	probably benign	Het
Col9a2	G	A	4: 121,054,292	R610H	not run	Het
Cubn	T	C	2: 13,426,967	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,201,988		probably null	Het
Dmrt2	A	T	19: 25,678,598	R520S	probably benign	Het
Drg2	A	G	11: 60,454,680	M1V	probably null	Het
Ect2	A	G	3: 27,098,419	S908P	probably damaging	Het
Eipr1	A	G	12: 28,866,955	T341A	probably benign	Het
Ell3	A	C	2: 121,440,410	I214R	probably benign	Het
Emsy	A	T	7: 98,615,486	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,900,462	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,619,877	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,774,080	I150F	probably damaging	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Hk2	G	A	6: 82,743,345	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345	H147L	probably benign	Het
Map3k6	T	A	4: 133,248,396	S732T	probably benign	Het
Masp2	A	G	4: 148,605,721	E229G	probably benign	Het
Mccc2	A	G	13: 99,971,777		probably null	Het
Mia3	A	G	1: 183,327,653	V359A		Het
Mob1a	A	T	6: 83,332,510	T80S	probably benign	Het
Msantd2	G	A	9: 37,523,294	G478S	probably damaging	Het
Mtf1	A	G	4: 124,825,181	E329G	probably null	Het
Myh9	T	A	15: 77,763,865	K1804*	probably null	Het
Ndst3	A	G	3: 123,671,664	W220R	probably damaging	Het
Nln	A	G	13: 104,036,970	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,446,488	M300T	probably benign	Het
Obscn	G	T	11: 59,129,577	D880E	possibly damaging	Het
Olfr1313	A	C	2: 112,072,100	V161G	probably benign	Het
Olfr136	T	A	17: 38,335,292	I45N	probably damaging	Het
Oprd1	T	C	4: 132,117,452	T82A	probably damaging	Het
Orc3	A	G	4: 34,595,136	C278R	probably damaging	Het
Pms1	T	C	1: 53,197,072	E683G	probably benign	Het
Prdm2	A	T	4: 143,179,299	Y73N	probably damaging	Het
Prkaa2	T	C	4: 105,075,543	Q36R	probably benign	Het
Psg22	A	G	7: 18,722,966	E258G	probably damaging	Het
Ptprf	T	C	4: 118,212,172	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,273,069	Y759F	probably benign	Het
Ripor2	A	G	13: 24,696,550	D411G	probably damaging	Het
Ryr2	A	C	13: 11,556,748		probably null	Het
Sdr42e1	T	C	8: 117,662,751	T384A	probably benign	Het
Sec1	A	T	7: 45,684,725		probably null	Het
Sec16a	A	T	2: 26,421,397	F616I		Het
Sipa1l2	T	C	8: 125,482,106	D521G	possibly damaging	Het
Smc1b	T	A	15: 85,097,542	Q759L	probably benign	Het
Snph	A	T	2: 151,600,343	S57R	probably damaging	Het
Sqor	A	T	2: 122,787,530	T103S	probably benign	Het
Srbd1	A	G	17: 86,136,321	V159A	probably benign	Het
Srsf2	A	T	11: 116,852,901	V10E	probably damaging	Het
Swap70	T	A	7: 110,264,109		probably null	Het
Synm	A	C	7: 67,733,206	*675G	probably null	Het
Tek	A	G	4: 94,811,345	E320G	probably benign	Het
Tenm3	T	C	8: 48,236,183	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,125,863	K56R	possibly damaging	Het
Top3b	G	A	16: 16,877,850		probably benign	Het
Tssc4	G	T	7: 143,070,688	E244D	possibly damaging	Het
Twnk	G	A	19: 45,010,564		probably null	Het
Ube4a	A	C	9: 44,956,713	I45S	probably benign	Het
Unc79	A	T	12: 103,088,758	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,746,315	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,933,053	I312L	probably benign	Het
Vmn1r77	A	G	7: 12,041,684	Y129C	probably damaging	Het
Wdr63	A	T	3: 146,093,080		probably null	Het
Zer1	A	G	2: 30,102,822	L600P	probably damaging	Het
Zfp266	T	C	9: 20,500,936	T114A	probably benign	Het
Zrsr1	T	C	11: 22,974,662		probably null	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
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'- ACTGTCTAGGTGAAGCAAGCG -3'
(R):5'- TACTTGTAAGGGACCTACAGCAG -3'

Sequencing Primer
(F):5'- CTGTCGCAAAGGGCAAGTGTC -3'
(R):5'- GGACCTACAGCAGATAAAAAGGCC -3'

Posted On

2019-12-09