Mutagenetix > Incidental Mutation

Incidental Mutation 'R1310:Pde4c'

157906

Institutional Source

Beutler Lab

Gene Symbol

Pde4c

Ensembl Gene

ENSMUSG00000031842

Gene Name

phosphodiesterase 4C, cAMP specific

Synonyms

Dpde1, dunce, E130301F19Rik

MMRRC Submission

039376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1310 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71176485-71203835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71202572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 592 (D592G)

Ref Sequence

ENSEMBL: ENSMUSP00000034307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034301] [ENSMUST00000034307] [ENSMUST00000110090] [ENSMUST00000110093] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874] [ENSMUST00000143118]

AlphaFold

Q3UEI1

Predicted Effect

probably benign
Transcript: ENSMUST00000034301

SMART Domains

Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034307
AA Change: D592G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: D592G

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 benign
Transcript: ENSMUST00000110090

SMART Domains

Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110093

SMART Domains

Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110095
AA Change: D626G

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: D626G

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 benign
Transcript: ENSMUST00000123739

SMART Domains

Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134693

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224874
AA Change: D586G

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000143118

SMART Domains

Protein: ENSMUSP00000123384
Gene: ENSMUSG00000031840

Domain	Start	End	E-Value	Type
Pfam:Miro	1	43	2.5e-6	PFAM
Pfam:Ras	1	62	3.8e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,754,936 (GRCm39)	H678R	probably benign	Het
Adgrv1	A	G	13: 81,714,496 (GRCm39)	V929A	probably benign	Het
Bcl10	T	G	3: 145,636,180 (GRCm39)	V26G	probably damaging	Het
C4b	A	G	17: 34,948,567 (GRCm39)	V1581A	probably damaging	Het
C87436	A	G	6: 86,422,432 (GRCm39)	E2G	possibly damaging	Het
Def6	G	A	17: 28,436,593 (GRCm39)	V86I	probably benign	Het
Drd3	A	G	16: 43,641,892 (GRCm39)	K403E	probably damaging	Het
Eme1	G	A	11: 94,536,368 (GRCm39)	R534C	probably damaging	Het
H2-T24	G	T	17: 36,325,888 (GRCm39)	Y234*	probably null	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifit1bl1	A	G	19: 34,571,096 (GRCm39)	S454P	possibly damaging	Het
Or4x11	T	A	2: 89,868,047 (GRCm39)	D261E	probably benign	Het
Or51a43	C	T	7: 103,717,805 (GRCm39)	M144I	probably benign	Het
Scn11a	C	T	9: 119,584,123 (GRCm39)	W1497*	probably null	Het
Sik3	A	G	9: 46,130,724 (GRCm39)	E1170G	possibly damaging	Het
Soat1	A	G	1: 156,268,902 (GRCm39)	L183P	possibly damaging	Het
Svep1	T	A	4: 58,069,416 (GRCm39)	Y2790F	possibly damaging	Het
Tmeff2	T	C	1: 51,220,946 (GRCm39)	V307A	probably damaging	Het
Tmem38a	T	A	8: 73,333,814 (GRCm39)	F98I	probably damaging	Het
Yod1	C	T	1: 130,646,567 (GRCm39)	A148V	probably benign	Het
Zfp850	A	C	7: 27,688,884 (GRCm39)	S441R	probably benign	Het
Zfp976	G	A	7: 42,262,610 (GRCm39)	P409L	probably damaging	Het

Other mutations in Pde4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01938:Pde4c	APN	8	71,202,027 (GRCm39)	missense	probably damaging	1.00
IGL02052:Pde4c	APN	8	71,201,062 (GRCm39)	missense	probably damaging	0.99
IGL02484:Pde4c	APN	8	71,200,701 (GRCm39)	splice site	probably benign
IGL02567:Pde4c	APN	8	71,200,570 (GRCm39)	missense	probably benign	0.11
IGL03355:Pde4c	APN	8	71,199,244 (GRCm39)	missense	probably damaging	1.00
coffee	UTSW	8	71,197,978 (GRCm39)	missense	probably damaging	0.99
tea	UTSW	8	71,201,621 (GRCm39)	missense	possibly damaging	0.67
R0396:Pde4c	UTSW	8	71,202,725 (GRCm39)	missense	probably benign
R1103:Pde4c	UTSW	8	71,201,066 (GRCm39)	missense	probably damaging	1.00
R1161:Pde4c	UTSW	8	71,202,572 (GRCm39)	missense	possibly damaging	0.90
R1420:Pde4c	UTSW	8	71,201,066 (GRCm39)	missense	probably damaging	1.00
R1456:Pde4c	UTSW	8	71,199,262 (GRCm39)	missense	probably benign	0.42
R1586:Pde4c	UTSW	8	71,199,508 (GRCm39)	missense	probably damaging	1.00
R1817:Pde4c	UTSW	8	71,179,638 (GRCm39)	missense	probably benign
R1818:Pde4c	UTSW	8	71,179,638 (GRCm39)	missense	probably benign
R1843:Pde4c	UTSW	8	71,200,599 (GRCm39)	missense	probably damaging	1.00
R1984:Pde4c	UTSW	8	71,177,191 (GRCm39)	missense	probably damaging	1.00
R2001:Pde4c	UTSW	8	71,200,007 (GRCm39)	splice site	probably null
R2088:Pde4c	UTSW	8	71,202,005 (GRCm39)	missense	possibly damaging	0.88
R4334:Pde4c	UTSW	8	71,202,475 (GRCm39)	splice site	probably null
R5369:Pde4c	UTSW	8	71,202,754 (GRCm39)	makesense	probably null
R5521:Pde4c	UTSW	8	71,200,031 (GRCm39)	critical splice donor site	probably null
R6168:Pde4c	UTSW	8	71,202,688 (GRCm39)	missense	probably benign	0.01
R6749:Pde4c	UTSW	8	71,198,659 (GRCm39)	missense	probably damaging	1.00
R7197:Pde4c	UTSW	8	71,197,978 (GRCm39)	missense	probably damaging	0.99
R7426:Pde4c	UTSW	8	71,201,621 (GRCm39)	missense	possibly damaging	0.67
R9004:Pde4c	UTSW	8	71,199,515 (GRCm39)	missense	possibly damaging	0.66
R9038:Pde4c	UTSW	8	71,179,550 (GRCm39)	missense	probably benign	0.03
R9134:Pde4c	UTSW	8	71,201,160 (GRCm39)	missense	probably damaging	1.00
R9584:Pde4c	UTSW	8	71,200,728 (GRCm39)	missense	probably benign	0.25
R9707:Pde4c	UTSW	8	71,202,701 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATTCCAGGCTGAGAACACCAGG -3'
(R):5'- GTGGAACGTCATCAGTGCCCATAG -3'

Sequencing Primer
(F):5'- TGATCACCCTAAGGTGGGAT -3'
(R):5'- CTCTTGTTGGACAAAGCAGAC -3'

Posted On

2014-02-18