Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Pde4c'

429552

Institutional Source

Beutler Lab

Gene Symbol

Pde4c

Ensembl Gene

ENSMUSG00000031842

Gene Name

phosphodiesterase 4C, cAMP specific

Synonyms

E130301F19Rik, dunce, Dpde1

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70723720-70751186 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 70750105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 647 (*647Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153213 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000034307
AA Change: *653Q

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: *653Q

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 null
Transcript: ENSMUST00000110095
AA Change: *687Q

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: *687Q

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149272

Predicted Effect

probably null
Transcript: ENSMUST00000224874
AA Change: *647Q

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,033,006	R131S	probably benign	Het
A2ml1	T	C	6: 128,568,833	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,379,091		probably benign	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,112,510	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,564	V175A	probably benign	Het
B3galnt2	T	C	13: 13,994,425		probably null	Het
BC024139	A	C	15: 76,120,222	S711R	probably benign	Het
Bod1l	A	G	5: 41,827,183	I508T	probably damaging	Het
Btnl6	T	A	17: 34,507,985	R524*	probably null	Het
C3	C	A	17: 57,221,159	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,061,414	A367V	probably benign	Het
Ccr1	A	T	9: 123,964,289	M68K	probably damaging	Het
Cd27	T	A	6: 125,234,364		probably benign	Het
Celf2	C	A	2: 7,081,081		probably benign	Het
Cfap54	T	C	10: 93,061,257		probably benign	Het
Cfap97	A	G	8: 46,169,650	K26E	probably damaging	Het
Clcn4	T	A	7: 7,296,033	I48F	probably benign	Het
Cnot7	A	T	8: 40,494,020	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750	I654V	unknown	Het
Dip2a	A	G	10: 76,292,360	I22T	probably damaging	Het
Eif4g3	C	T	4: 138,183,334	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,858,783	G725D	probably damaging	Het
F12	T	C	13: 55,418,491	E496G	probably benign	Het
Fam227a	A	T	15: 79,615,436	S573T	probably benign	Het
Fnip1	T	C	11: 54,502,589	V593A	probably benign	Het
Focad	T	A	4: 88,121,373		probably benign	Het
Frem1	A	G	4: 83,001,739	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,765,747		probably null	Het
Gm5592	A	T	7: 41,218,211		probably benign	Het
Gm6185	A	T	1: 161,209,760		noncoding transcript	Het
Gm7935	A	T	15: 74,081,114		noncoding transcript	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Gstm5	G	A	3: 107,898,466	A198T	probably damaging	Het
Herc2	T	A	7: 56,182,700	V3048D	probably damaging	Het
Htra4	T	G	8: 25,033,569	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,637,307	M1T	probably null	Het
Ints6	T	C	14: 62,743,935	T135A	probably damaging	Het
Itpr1	T	A	6: 108,519,424	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,692,558	M268L	probably benign	Het
Lrp1b	G	T	2: 41,004,613	S2201*	probably null	Het
Lrp2	T	C	2: 69,459,560	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,272,904	I539N	possibly damaging	Het
Map3k6	T	C	4: 133,247,681	I675T	probably damaging	Het
Map3k9	T	A	12: 81,722,052	E1074V	probably damaging	Het
Med13l	T	A	5: 118,724,010	S339R	probably benign	Het
Mrps18a	T	C	17: 46,125,626		probably benign	Het
Nat8f2	G	T	6: 85,867,872	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,181,799	I406T	probably benign	Het
Npc1l1	A	G	11: 6,217,705		probably null	Het
Olfr202	A	T	16: 59,284,380	M39K	probably damaging	Het
Olfr419	A	G	1: 174,250,441	V162A	probably damaging	Het
Ostf1	C	T	19: 18,581,325	G198E	probably benign	Het
Pcsk5	A	G	19: 17,581,255	V596A	probably damaging	Het
Pkm	A	T	9: 59,670,634	I245F	probably damaging	Het
Ptprj	T	C	2: 90,469,641	H179R	probably benign	Het
Rapgef2	A	T	3: 79,069,432	S1356T	probably benign	Het
Rbm45	T	A	2: 76,370,250	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scel	A	T	14: 103,586,493	I386F	probably benign	Het
Serpinb5	A	T	1: 106,881,757	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,869,493	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,991,388	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,957,723	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,490,199	D25G	probably benign	Het
Snrnp40	T	C	4: 130,362,646	S55P	probably damaging	Het
Snx9	T	A	17: 5,920,580	C399S	probably damaging	Het
Soga1	T	C	2: 157,040,734	E466G	probably damaging	Het
Ttbk2	T	C	2: 120,825,262		probably benign	Het
Vmn1r1	A	G	1: 182,157,776	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,475,502	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491	P1851L	possibly damaging	Het
Zfp472	A	T	17: 32,977,743	D264V	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
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
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'- CAGCCATTGTGGGAGACATG -3'
(R):5'- GCTTGGCTCTGTGTAAACCTTG -3'

Sequencing Primer
(F):5'- TTCTGGACACCTTGGAAGAC -3'
(R):5'- TGTGTAAACCTTGGCTGTCC -3'

Posted On

2016-09-06