Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Pde4c'

560019

Institutional Source

Beutler Lab

Gene Symbol

Pde4c

Ensembl Gene

ENSMUSG00000031842

Gene Name

phosphodiesterase 4C, cAMP specific

Synonyms

E130301F19Rik, dunce, Dpde1

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70723720-70751186 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70745329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 102 (G102W)

Ref Sequence

ENSEMBL: ENSMUSP00000105722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874]

AlphaFold

Q3UEI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034307
AA Change: G102W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: G102W

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	512	1.48e0	SMART
Pfam:PDEase_I	526	598	5.3e-21	PFAM
low complexity region	625	636	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110095
AA Change: G102W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: G102W

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	561	5.11e-6	SMART
low complexity region	659	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123739
AA Change: G102W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842
AA Change: G102W

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224874
AA Change: G62W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,258,222		probably null	Het
Aars2	T	C	17: 45,508,959	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,945,822	R1216*	probably null	Het
Acad8	A	T	9: 26,977,671		probably null	Het
Acer2	A	G	4: 86,887,050	T84A	probably null	Het
Adgrb2	A	G	4: 130,009,522	N613S	probably damaging	Het
Arap2	T	C	5: 62,641,386	D1300G	possibly damaging	Het
Ccl11	A	T	11: 82,057,839		probably benign	Het
Cfh	A	T	1: 140,088,767	Y1151*	probably null	Het
Cobll1	A	G	2: 65,098,538	S815P	probably benign	Het
Cryz	T	C	3: 154,621,568	S240P	probably damaging	Het
Csmd2	A	G	4: 128,511,033	Y2404C		Het
F13a1	T	C	13: 36,916,886	D428G	probably damaging	Het
Fbxo42	A	G	4: 141,200,085	S559G	probably benign	Het
Fry	A	G	5: 150,469,767	S263G		Het
Fshr	C	T	17: 88,985,469	A594T	probably damaging	Het
Gatsl3	T	C	11: 4,218,949	C39R	probably damaging	Het
Gm1527	A	G	3: 28,926,541	M597V	probably null	Het
Gpr158	A	T	2: 21,810,601	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,029,996	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,117,085	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,403,346	N366K	probably damaging	Het
Kif15	T	C	9: 123,009,926		probably null	Het
Klk1b26	T	A	7: 44,016,397		probably null	Het
Lama1	G	T	17: 67,737,705	E200*	probably null	Het
Lpar5	C	T	6: 125,082,384	T356I	probably benign	Het
Lrch3	A	T	16: 32,990,295	T538S	probably damaging	Het
Mansc4	A	G	6: 147,075,705	S138P	probably damaging	Het
Mief1	T	C	15: 80,249,860	S373P	possibly damaging	Het
Nbas	G	T	12: 13,520,750	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,244,415	E435G	probably damaging	Het
Nynrin	A	T	14: 55,871,923	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,550	M41L	probably benign	Het
Olfr1209	A	T	2: 88,910,364	F10I	probably benign	Het
Olfr1220	A	G	2: 89,097,282	V215A	probably benign	Het
Olfr713	A	G	7: 107,036,157	M8V	probably benign	Het
Olfr871	T	G	9: 20,212,555	S69A	probably benign	Het
Oxnad1	T	C	14: 32,096,516	V106A	possibly damaging	Het
Padi4	C	A	4: 140,761,658	E157*	probably null	Het
Parp10	A	T	15: 76,242,416	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,490,383	S255R	probably benign	Het
Pde6a	T	C	18: 61,258,224	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,326,058	L137I	probably benign	Het
Pigh	A	C	12: 79,083,689	I134S	probably damaging	Het
Pigt	G	A	2: 164,502,516	V362M	probably damaging	Het
Pld1	A	G	3: 28,024,252	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,685,601	V382A	probably damaging	Het
Prdm16	T	C	4: 154,341,510	E606G	probably damaging	Het
Psg28	A	G	7: 18,430,584	Y68H	probably damaging	Het
Qpctl	C	A	7: 19,149,019	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,342,155	P584L	probably damaging	Het
Sde2	C	T	1: 180,851,278	H36Y	probably benign	Het
Sema4d	T	C	13: 51,702,836	S787G	probably benign	Het
Sgca	C	T	11: 94,973,188		probably null	Het
Shroom3	A	G	5: 92,942,604	E1071G	probably damaging	Het
Skint5	A	G	4: 113,580,482		probably null	Het
Slc44a3	T	A	3: 121,525,762	D110V	probably benign	Het
Slc4a4	A	C	5: 88,934,574		probably benign	Het
Slc4a8	A	G	15: 100,790,976	D389G	probably damaging	Het
Sp3	C	G	2: 72,979,609	E11Q	probably benign	Het
Srrm2	A	G	17: 23,818,224	S1281G	unknown	Het
Tat	A	T	8: 109,996,827	I316F	probably benign	Het
Thoc5	A	G	11: 4,915,563	T381A	probably benign	Het
Tiam1	T	C	16: 89,884,938	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,811,663	F197L	probably damaging	Het
Trav8d-1	A	G	14: 52,778,978	Y107C	probably damaging	Het
Trim10	T	A	17: 36,876,954	V354D	probably damaging	Het
Unc45b	A	T	11: 82,940,187		probably null	Het
Unc79	A	G	12: 103,112,506	I1643M	probably benign	Het
Unc80	G	T	1: 66,521,566	G818*	probably null	Het
Usp15	A	T	10: 123,131,005	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,234,841	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994	V84A	probably benign	Het
Vmn2r67	C	T	7: 85,136,566	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,893,198	C221R	probably benign	Het
Zxdc	C	T	6: 90,378,837	H443Y	probably damaging	Het

Other mutations in Pde4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01938:Pde4c	APN	8	70749378	missense	probably damaging	1.00
IGL02052:Pde4c	APN	8	70748413	missense	probably damaging	0.99
IGL02484:Pde4c	APN	8	70748052	splice site	probably benign
IGL02567:Pde4c	APN	8	70747921	missense	probably benign	0.11
IGL03355:Pde4c	APN	8	70746595	missense	probably damaging	1.00
coffee	UTSW	8	70745329	missense	probably damaging	0.99
tea	UTSW	8	70748972	missense	possibly damaging	0.67
R0396:Pde4c	UTSW	8	70750076	missense	probably benign
R1103:Pde4c	UTSW	8	70748417	missense	probably damaging	1.00
R1161:Pde4c	UTSW	8	70749923	missense	possibly damaging	0.90
R1310:Pde4c	UTSW	8	70749923	missense	possibly damaging	0.90
R1420:Pde4c	UTSW	8	70748417	missense	probably damaging	1.00
R1456:Pde4c	UTSW	8	70746613	missense	probably benign	0.42
R1586:Pde4c	UTSW	8	70746859	missense	probably damaging	1.00
R1817:Pde4c	UTSW	8	70726989	missense	probably benign
R1818:Pde4c	UTSW	8	70726989	missense	probably benign
R1843:Pde4c	UTSW	8	70747950	missense	probably damaging	1.00
R1984:Pde4c	UTSW	8	70724542	missense	probably damaging	1.00
R2001:Pde4c	UTSW	8	70747358	splice site	probably null
R2088:Pde4c	UTSW	8	70749356	missense	possibly damaging	0.88
R4334:Pde4c	UTSW	8	70749826	splice site	probably null
R5369:Pde4c	UTSW	8	70750105	makesense	probably null
R5521:Pde4c	UTSW	8	70747382	critical splice donor site	probably null
R6168:Pde4c	UTSW	8	70750039	missense	probably benign	0.01
R6749:Pde4c	UTSW	8	70746010	missense	probably damaging	1.00
R7426:Pde4c	UTSW	8	70748972	missense	possibly damaging	0.67
R9004:Pde4c	UTSW	8	70746866	missense	possibly damaging	0.66
R9038:Pde4c	UTSW	8	70726901	missense	probably benign	0.03
R9134:Pde4c	UTSW	8	70748511	missense	probably damaging	1.00
R9584:Pde4c	UTSW	8	70748079	missense	probably benign	0.25
R9707:Pde4c	UTSW	8	70750052	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATTGGTAGGTTCTCTCATGC -3'
(R):5'- TCACAAAGTAACGCTCTGGG -3'

Sequencing Primer
(F):5'- TTCTCTCATGCGGGGCAG -3'
(R):5'- GTAACGCTCTGGGAAATTCCTAC -3'

Posted On

2019-06-26