Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Pde4b'

317910

Institutional Source

Beutler Lab

Gene Symbol

Pde4b

Ensembl Gene

ENSMUSG00000028525

Gene Name

phosphodiesterase 4B, cAMP specific

Synonyms

dunce, Dpde4

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102087543-102607259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102597460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000102514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030251] [ENSMUST00000097949] [ENSMUST00000097950] [ENSMUST00000106901] [ENSMUST00000106904] [ENSMUST00000106908] [ENSMUST00000106911]

AlphaFold

B1AWC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030251
AA Change: E89G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525
AA Change: E89G

Domain	Start	End	E-Value	Type
HDc	151	326	2.35e-5	SMART
low complexity region	433	446	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: E108G

Domain	Start	End	E-Value	Type
HDc	170	345	2.35e-5	SMART
low complexity region	452	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097950
AA Change: E169G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525
AA Change: E169G

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
HDc	231	406	2.35e-5	SMART
low complexity region	513	526	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106901
AA Change: E108G

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

SMART Domains

Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: E108G

Domain	Start	End	E-Value	Type
HDc	170	345	2.35e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106904
AA Change: E264G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: E264G

Domain	Start	End	E-Value	Type
HDc	326	501	2.35e-5	SMART
low complexity region	608	621	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106908
AA Change: E326G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: E326G

Domain	Start	End	E-Value	Type
HDc	388	563	2.35e-5	SMART
low complexity region	670	683	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106911
AA Change: E341G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: E341G

Domain	Start	End	E-Value	Type
low complexity region	23	33	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
HDc	403	578	2.35e-5	SMART
low complexity region	685	698	N/A	INTRINSIC

Meta Mutation Damage Score

0.3136

Coding Region Coverage

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

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation. One mutation resulted in brain and spinal cord vacuoles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
3110001I22Rik	T	A	16: 13,677,728	H230Q	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,611,456	G495C	probably damaging	Het
Abcc4	C	A	14: 118,611,459	V494L	possibly damaging	Het
Acsm4	T	C	7: 119,708,740	Y367H	probably benign	Het
Adam21	A	T	12: 81,559,508	Y493*	probably null	Het
Add2	T	C	6: 86,096,756	F209S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Aff4	T	G	11: 53,372,999	L282R	probably damaging	Het
Akt3	A	G	1: 177,096,995	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,041,015	Y174C	probably damaging	Het
Atl1	A	G	12: 69,953,500	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,644,525		probably null	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,630,322	I1366N	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc167	T	C	17: 29,704,431	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,313,646		probably benign	Het
Cenpe	A	G	3: 135,242,493	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Exog	A	G	9: 119,452,266	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,590,334	W30R	probably benign	Het
Fam172a	C	A	13: 77,902,720	H50N	probably benign	Het
Fndc3b	G	A	3: 27,456,451	Q841*	probably null	Het
Frzb	T	A	2: 80,424,601	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gabrb1	G	A	5: 71,700,336	R43Q	probably benign	Het
Gm21060	A	T	19: 61,297,007	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Gm5581	A	C	6: 131,168,162		noncoding transcript	Het
Gm9894	T	C	13: 67,763,915		noncoding transcript	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546		probably benign	Het
Grid2	T	C	6: 63,908,893	L91S	probably damaging	Het
Igsf5	A	C	16: 96,378,351	T215P	probably damaging	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Kifc2	T	A	15: 76,662,825	L226H	probably damaging	Het
Klf10	T	C	15: 38,295,996	H435R	probably damaging	Het
Masp1	T	C	16: 23,452,932	Y623C	probably damaging	Het
Megf10	T	A	18: 57,212,354	C118S	probably damaging	Het
Mical3	A	G	6: 120,982,607	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,398,475		probably null	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nmi	A	T	2: 51,948,620	S301T	probably benign	Het
Nr2f2	G	T	7: 70,358,155	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,197,098	N404S	probably damaging	Het
Olfr54	T	G	11: 51,027,475	S158A	probably benign	Het
Olfr594	T	C	7: 103,219,997	V93A	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Otoa	T	A	7: 121,118,569	D336E	probably benign	Het
Pdgfrb	G	A	18: 61,061,505	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Plekhg4	A	G	8: 105,381,464	E982G	probably damaging	Het
Pmfbp1	T	G	8: 109,530,144		probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rab11fip5	C	A	6: 85,348,991	Q144H	possibly damaging	Het
Reep3	A	T	10: 67,039,499		probably null	Het
Rgl2	T	C	17: 33,933,615	L400P	probably damaging	Het
Rnf122	A	G	8: 31,124,846		probably benign	Het
Scgb1b21	G	T	7: 33,527,378		noncoding transcript	Het
Sec63	A	T	10: 42,823,886	K647N	probably damaging	Het
Sema4a	C	T	3: 88,438,176		probably benign	Het
Serpinf1	C	T	11: 75,416,419	V31I	probably benign	Het
Sez6l	C	T	5: 112,424,615		probably benign	Het
Shank3	T	C	15: 89,557,964	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,022,798	T166M	probably benign	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc38a11	A	T	2: 65,330,339	F304I	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Slx4ip	A	G	2: 137,067,681	T129A	probably benign	Het
Spop	T	C	11: 95,491,711	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,358,880	D147E	probably benign	Het
Tnpo1	T	C	13: 98,852,932	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttc27	T	A	17: 74,780,856	M472K	probably damaging	Het
Ttll7	A	G	3: 146,915,795		probably benign	Het
Ttn	A	T	2: 76,721,760	C22851S	probably benign	Het
Ttn	T	A	2: 76,798,212	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,640,262	T54A	probably benign	Het
Usp33	T	C	3: 152,380,628	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,481,071	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,798,095	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,602,191		probably null	Het
Wnk1	T	C	6: 119,969,247	I648M	probably damaging	Het

Other mutations in Pde4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Pde4b	APN	4	102506044	critical splice donor site	probably null
IGL01146:Pde4b	APN	4	102255263	missense	possibly damaging	0.80
IGL01377:Pde4b	APN	4	102487402	missense	probably damaging	1.00
IGL01549:Pde4b	APN	4	102605068	missense	probably damaging	0.97
IGL01739:Pde4b	APN	4	102601635	missense	probably damaging	0.97
IGL01791:Pde4b	APN	4	102590930	splice site	probably benign
IGL02211:Pde4b	APN	4	102590822	splice site	probably benign
IGL02578:Pde4b	APN	4	102255297	missense	possibly damaging	0.94
IGL02878:Pde4b	APN	4	102601639	missense	probably damaging	1.00
PIT4458001:Pde4b	UTSW	4	102602678	missense	probably damaging	1.00
PIT4618001:Pde4b	UTSW	4	102602812	missense	probably benign	0.09
R0102:Pde4b	UTSW	4	102590178	missense	probably benign	0.15
R0230:Pde4b	UTSW	4	102597510	missense	probably benign	0.01
R0530:Pde4b	UTSW	4	102602651	missense	probably damaging	0.96
R0704:Pde4b	UTSW	4	102487392	missense	probably damaging	0.99
R1115:Pde4b	UTSW	4	102542155	intron	probably benign
R1450:Pde4b	UTSW	4	102601635	missense	probably damaging	0.97
R1457:Pde4b	UTSW	4	102605176	missense	probably damaging	0.99
R1568:Pde4b	UTSW	4	102597699	missense	probably damaging	1.00
R1740:Pde4b	UTSW	4	102487351	missense	probably damaging	1.00
R1784:Pde4b	UTSW	4	102605260	missense	probably benign	0.02
R1960:Pde4b	UTSW	4	102597460	missense	probably damaging	0.99
R2033:Pde4b	UTSW	4	102605295	missense	probably benign	0.43
R2210:Pde4b	UTSW	4	102597475	missense	probably damaging	1.00
R2848:Pde4b	UTSW	4	102601545	missense	probably damaging	1.00
R2936:Pde4b	UTSW	4	102601545	missense	probably damaging	1.00
R3195:Pde4b	UTSW	4	102599643	missense	probably damaging	0.99
R3196:Pde4b	UTSW	4	102599643	missense	probably damaging	0.99
R3695:Pde4b	UTSW	4	102601545	missense	probably damaging	1.00
R3699:Pde4b	UTSW	4	102601545	missense	probably damaging	1.00
R4014:Pde4b	UTSW	4	102555625	missense	probably benign	0.00
R4627:Pde4b	UTSW	4	102601605	missense	probably damaging	1.00
R4852:Pde4b	UTSW	4	102597770	missense	probably damaging	1.00
R5055:Pde4b	UTSW	4	102195114	intron	probably benign
R5109:Pde4b	UTSW	4	102601544	missense	probably damaging	1.00
R5319:Pde4b	UTSW	4	102421788	utr 3 prime	probably benign
R5476:Pde4b	UTSW	4	102602699	missense	probably benign	0.00
R5576:Pde4b	UTSW	4	102430162	missense	probably damaging	0.98
R6019:Pde4b	UTSW	4	102570769	missense	possibly damaging	0.56
R6151:Pde4b	UTSW	4	102601551	missense	probably damaging	1.00
R6540:Pde4b	UTSW	4	102601876	missense	probably damaging	1.00
R6573:Pde4b	UTSW	4	102430162	missense	probably damaging	0.98
R6662:Pde4b	UTSW	4	102601898	missense	possibly damaging	0.82
R6751:Pde4b	UTSW	4	102602671	missense	probably damaging	0.98
R7066:Pde4b	UTSW	4	102602806	missense	probably benign	0.03
R7092:Pde4b	UTSW	4	102601851	missense	probably damaging	1.00
R7461:Pde4b	UTSW	4	102255306	missense	probably damaging	1.00
R7613:Pde4b	UTSW	4	102255306	missense	probably damaging	1.00
R8068:Pde4b	UTSW	4	102596015	missense	probably damaging	1.00
R8296:Pde4b	UTSW	4	102602786	missense	possibly damaging	0.76
R8732:Pde4b	UTSW	4	102555625	missense	probably null	0.00
R9070:Pde4b	UTSW	4	102601797	missense	probably damaging	1.00
R9111:Pde4b	UTSW	4	102597460	missense	probably damaging	0.99
R9114:Pde4b	UTSW	4	102602629	missense	probably damaging	1.00
R9295:Pde4b	UTSW	4	102255281	missense	probably damaging	0.99
R9384:Pde4b	UTSW	4	102255251	missense	probably benign
R9516:Pde4b	UTSW	4	102604986	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTATCATGAAGAGGAGATACAGCC -3'
(R):5'- ACGTCTTCAGAAGGTCTCTTTC -3'

Sequencing Primer
(F):5'- GAGGAGATACAGCCAGCCC -3'
(R):5'- CAGAAGGTCTCTTTCCTATGTAGG -3'

Posted On

2015-05-19