Mutagenetix > Incidental Mutation

Incidental Mutation 'R1246:Pde4d'

152161

Institutional Source

Beutler Lab

Gene Symbol

Pde4d

Ensembl Gene

ENSMUSG00000021699

Gene Name

phosphodiesterase 4D, cAMP specific

Synonyms

9630011N22Rik, dunce, Dpde3

MMRRC Submission

039313-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108790711-110092503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110087507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 625 (W625R)

Ref Sequence

ENSEMBL: ENSMUSP00000136485 (fasta)

Gene Model

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

AlphaFold

Q01063

Predicted Effect

probably damaging
Transcript: ENSMUST00000074103
AA Change: W556R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: W556R

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: W576R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: W576R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117420
AA Change: W395R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: W395R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117879
AA Change: W382R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: W382R

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: W581R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: W581R

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: W462R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: W462R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120671
AA Change: W681R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: W681R

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: W625R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: W625R

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: ENSMUST00000177907
AA Change: W625R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: W625R

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: W578R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: W578R

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

unknown
Transcript: ENSMUST00000153234
AA Change: W631R

SMART Domains

Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: W631R

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: ENSMUST00000155459

SMART Domains

Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,803 (GRCm39)	D71G	unknown	Het
Gm11563	T	C	11: 99,549,674 (GRCm39)	T27A	unknown	Het
Gm7361	G	T	5: 26,466,225 (GRCm39)	E196*	probably null	Het
Ltbp1	T	A	17: 75,692,156 (GRCm39)	Y1273*	probably null	Het
Nol8	T	A	13: 49,830,245 (GRCm39)	W1110R	probably damaging	Het
Or52b4	T	A	7: 102,184,149 (GRCm39)	L65H	probably damaging	Het
Or56b2	C	A	7: 104,337,371 (GRCm39)	L50I	possibly damaging	Het
Or8b1	T	C	9: 38,400,086 (GRCm39)	S254P	probably damaging	Het
Pigg	T	C	5: 108,489,686 (GRCm39)	Y631H	probably damaging	Het
Pik3cd	A	G	4: 149,744,257 (GRCm39)	Y165H	probably damaging	Het
Rap1gap	A	G	4: 137,439,405 (GRCm39)	E114G	possibly damaging	Het
Tubb2b	G	A	13: 34,312,130 (GRCm39)	T221I	possibly damaging	Het
Ythdf2	G	A	4: 131,932,182 (GRCm39)	T326M	probably benign	Het
Zzef1	A	G	11: 72,765,735 (GRCm39)	I1421V	probably benign	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
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
R3742:Pde4d	UTSW	13	109,877,013 (GRCm39)	missense	probably benign	0.42
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'- CGTGATCTGTTGGCTCAAACTGACC -3'
(R):5'- AGAAAGAGTGGGACAGCCTTTATGC -3'

Sequencing Primer
(F):5'- GTTGGCTCAAACTGACCAATTTAC -3'
(R):5'- TGCACAGAGTCTTAGAGTCACTG -3'

Posted On

2014-01-29