Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Pde4c'

298882

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4c

Ensembl Gene

ENSMUSG00000031842

Gene Name

phosphodiesterase 4C, cAMP specific

Synonyms

E130301F19Rik, dunce, Dpde1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

70723720-70751186 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70747921 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 352 (M352K)

Ref Sequence

ENSEMBL: ENSMUSP00000153213 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034307
AA Change: M392K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: M392K

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: ENSMUST00000110095
AA Change: M392K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: M392K

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: ENSMUST00000134693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149272

Predicted Effect

probably benign
Transcript: ENSMUST00000224874
AA Change: M352K

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	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
IGL03355:Pde4c	APN	8	70746595	missense	probably damaging	1.00
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	unclassified	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
R7197:Pde4c	UTSW	8	70745329	missense	probably damaging	0.99
R7426:Pde4c	UTSW	8	70748972	missense	possibly damaging	0.67

Posted On

2015-04-16