Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Pde4c'

220338

Institutional Source

Beutler Lab

Gene Symbol

Pde4c

Ensembl Gene

ENSMUSG00000031842

Gene Name

phosphodiesterase 4C, cAMP specific

Synonyms

Dpde1, dunce, E130301F19Rik

MMRRC Submission

039996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1984 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

71176485-71203835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71177191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 6 (T6M)

Ref Sequence

ENSEMBL: ENSMUSP00000119312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000179347] [ENSMUST00000213065]

AlphaFold

Q3UEI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034307
AA Change: T6M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: T6M

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: T6M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: T6M

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: T6M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842
AA Change: T6M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179347

SMART Domains

Protein: ENSMUSP00000136399
Gene: ENSMUSG00000095026

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213065

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,778 (GRCm39)	L81H	probably damaging	Het
Abca8b	A	G	11: 109,868,667 (GRCm39)	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,671,868 (GRCm39)	E2242D	probably damaging	Het
Agap1	T	C	1: 89,694,045 (GRCm39)	S448P	probably benign	Het
Aldh1a2	T	C	9: 71,160,334 (GRCm39)	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,262,115 (GRCm39)	N205S	probably benign	Het
Anapc1	C	A	2: 128,511,608 (GRCm39)	G493C	possibly damaging	Het
Aox3	A	T	1: 58,192,220 (GRCm39)	I497F	possibly damaging	Het
Atp2b1	T	C	10: 98,850,354 (GRCm39)	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,164,928 (GRCm39)	R1129S	probably damaging	Het
Bche	T	A	3: 73,609,159 (GRCm39)	Q89L	probably benign	Het
Bche	G	T	3: 73,609,160 (GRCm39)	Q89K	probably benign	Het
Bcl9	T	C	3: 97,121,050 (GRCm39)	K171E	probably damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Dok6	T	C	18: 89,578,234 (GRCm39)	E61G	probably damaging	Het
Duxf4	T	A	10: 58,071,785 (GRCm39)	Q143L	possibly damaging	Het
Esf1	A	T	2: 139,990,806 (GRCm39)	D559E	possibly damaging	Het
F11r	A	G	1: 171,289,438 (GRCm39)	I254V	probably benign	Het
Fkrp	A	G	7: 16,545,802 (GRCm39)	V20A	probably benign	Het
Fscb	T	C	12: 64,521,457 (GRCm39)	E3G	unknown	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Igfn1	A	G	1: 135,889,782 (GRCm39)	S2422P	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Isg15	T	C	4: 156,284,250 (GRCm39)	I93V	probably benign	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Marchf6	A	T	15: 31,469,792 (GRCm39)	L726Q	probably damaging	Het
Megf6	G	T	4: 154,352,124 (GRCm39)	G1210C	probably damaging	Het
Msh2	C	T	17: 88,026,724 (GRCm39)	T740I	probably damaging	Het
Myh14	T	C	7: 44,288,446 (GRCm39)	Y514C	probably damaging	Het
Myorg	C	A	4: 41,497,501 (GRCm39)	A710S	possibly damaging	Het
Nedd1	T	C	10: 92,550,022 (GRCm39)	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Obox1	A	T	7: 15,289,135 (GRCm39)	I17L	probably benign	Het
Or11g24	A	T	14: 50,662,848 (GRCm39)	I291L	possibly damaging	Het
Palb2	A	C	7: 121,726,303 (GRCm39)	H522Q	probably damaging	Het
Plekhg1	A	G	10: 3,908,181 (GRCm39)	K97E	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Qrich1	T	C	9: 108,411,246 (GRCm39)	V257A	probably damaging	Het
Rpl14	A	G	9: 120,401,253 (GRCm39)	D32G	possibly damaging	Het
Senp8	A	G	9: 59,644,721 (GRCm39)	V132A	possibly damaging	Het
Serac1	A	G	17: 6,095,964 (GRCm39)		probably null	Het
Sh2d3c	T	A	2: 32,639,256 (GRCm39)	C295*	probably null	Het
Stab1	A	G	14: 30,872,605 (GRCm39)	F1142L	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	G	15: 66,554,691 (GRCm39)	E702G	probably benign	Het
Tgif2lx2	A	T	X: 117,337,690 (GRCm39)	K218*	probably null	Het
Tpp1	C	A	7: 105,400,905 (GRCm39)	V41L	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp683	T	C	4: 133,784,766 (GRCm39)	F338L	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
R1310: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
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'- GAGCTTGGGCGGGAGTAC -3'
(R):5'- GAGACACAGAGGAACCATAAATCT -3'

Sequencing Primer
(F):5'- AGTACCTGCAGCAGCCTC -3'
(R):5'- TCAGTGATTCCAGCAATGGC -3'

Posted On

2014-08-25