Mutagenetix > Incidental Mutation

Incidental Mutation 'R3742:Pde4d'

270421

Institutional Source

Beutler Lab

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

9630011N22Rik, dunce, Dpde3

MMRRC Submission

040728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3742 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108790711-110092503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109877013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 53 (V53G)

Ref Sequence

ENSEMBL: ENSMUSP00000073742 (fasta)

Gene Model

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

AlphaFold

Q01063

Predicted Effect

probably benign
Transcript: ENSMUST00000074103
AA Change: V53G

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: V53G

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: V73G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: V73G

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
AA Change: V78G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: V78G

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
AA Change: V178G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: V178G

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: V122G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: V122G

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 benign
Transcript: ENSMUST00000135275
AA Change: V75G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: V75G

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: ENSMUST00000138938

Predicted Effect

probably benign
Transcript: ENSMUST00000177907
AA Change: V122G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: V122G

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: V128G

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: V128G

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

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (32/33)

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
Atp8b2	C	G	3: 89,853,338 (GRCm39)	A726P	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bclaf3	T	A	X: 158,334,828 (GRCm39)	H41Q	probably benign	Het
Bsn	C	A	9: 107,982,938 (GRCm39)	R3605M	unknown	Het
Ctso	G	A	3: 81,859,556 (GRCm39)	V288I	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,095,076 (GRCm39)	M718T	probably benign	Het
Dsg4	A	T	18: 20,604,058 (GRCm39)	T842S	probably damaging	Het
Epb41l5	T	C	1: 119,532,973 (GRCm39)	Q388R	probably benign	Het
Fbxo6	A	G	4: 148,234,090 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,930,104 (GRCm39)	Y281D	probably damaging	Het
Gm6489	T	A	1: 31,326,764 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,476,808 (GRCm39)	T329A	probably benign	Het
Hemgn	T	C	4: 46,396,421 (GRCm39)	T272A	possibly damaging	Het
Hinfp	A	G	9: 44,213,812 (GRCm39)	C22R	probably damaging	Het
Hoxc13	G	A	15: 102,829,873 (GRCm39)	G84D	possibly damaging	Het
Ing5	T	A	1: 93,740,398 (GRCm39)	S106R	probably damaging	Het
Mbd6	G	A	10: 127,120,812 (GRCm39)		probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Nup210l	A	T	3: 90,114,701 (GRCm39)	M1759L	probably benign	Het
Or10ag52	A	G	2: 87,043,340 (GRCm39)	I35V	probably benign	Het
Or5b106	A	G	19: 13,123,258 (GRCm39)	F255S	probably damaging	Het
Or7e168	A	T	9: 19,720,195 (GRCm39)	I194F	probably benign	Het
Or7g25	A	G	9: 19,159,979 (GRCm39)	S239P	possibly damaging	Het
Shisa9	G	A	16: 12,085,528 (GRCm39)	R379Q	probably damaging	Het
Syngr4	T	C	7: 45,545,194 (GRCm39)	E5G	possibly damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tmem88b	A	G	4: 155,869,884 (GRCm39)	L59P	probably damaging	Het
Zfp386	T	A	12: 116,023,170 (GRCm39)	L296*	probably null	Het
Zfp605	G	T	5: 110,276,564 (GRCm39)	G561W	probably damaging	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
IGL02233:Pde4d	APN	13	109,877,084 (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
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

Predicted Primers

PCR Primer
(F):5'- CCACTACATCTCTAGTTCAACGTTG -3'
(R):5'- ATCTACTCCAGAGATGAATCTGC -3'

Sequencing Primer
(F):5'- GCAAGAATCAGATGTAATATCTTCCC -3'
(R):5'- TACTCCAGAGATGAATCTGCTCAGG -3'

Posted On

2015-03-18