Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Pde4b'

620097

Institutional Source

Beutler Lab

Gene Symbol

Pde4b

Ensembl Gene

ENSMUSG00000028525

Gene Name

phosphodiesterase 4B, cAMP specific

Synonyms

dunce, Dpde4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102087543-102607259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102596015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 293 (I293T)

Ref Sequence

ENSEMBL: ENSMUSP00000102521 (fasta)

Gene Model

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

AlphaFold

B1AWC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030251
AA Change: I56T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525
AA Change: I56T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097949
AA Change: I75T

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: I75T

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: I136T

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

SMART Domains

Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525
AA Change: I136T

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 benign
Transcript: ENSMUST00000106901
AA Change: I75T

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: I75T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106904
AA Change: I231T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: I231T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106908
AA Change: I293T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: I293T

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: I308T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: I308T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 40,825,938	D455E	not run	Het
Aldoc	T	C	11: 78,324,727	F79S	possibly damaging	Het
Atmin	A	G	8: 116,956,650	S350G	probably benign	Het
Bms1	A	G	6: 118,413,750	F206S	probably damaging	Het
Carmil1	T	A	13: 24,075,728	I698L	probably benign	Het
Cd47	T	A	16: 49,895,416	S182T		Het
Ces2e	G	T	8: 104,932,997		probably null	Het
Cit	C	A	5: 115,952,466	H906Q	probably damaging	Het
Cit	T	C	5: 115,982,235	S1370P	probably benign	Het
Dchs2	T	C	3: 83,300,438	F1739L	probably benign	Het
Dlx4	T	C	11: 95,145,330	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,190	Y796*	probably null	Het
Elf1	T	A	14: 79,536,390	F14I	probably benign	Het
Fam135b	T	C	15: 71,532,978	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gls2	C	G	10: 128,195,114	R81G	unknown	Het
Hnrnpll	T	C	17: 80,050,852	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,665,511	M726K	probably benign	Het
Kcna10	T	G	3: 107,194,410	M119R	possibly damaging	Het
Kcnh1	A	G	1: 192,241,942	T155A	probably benign	Het
Kctd9	T	A	14: 67,724,662	D51E	unknown	Het
Lgr6	T	C	1: 135,063,664	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,128,102	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,324,168	Q850K	probably damaging	Het
Mdm1	A	G	10: 118,146,804	R115G	possibly damaging	Het
Mns1	A	C	9: 72,448,527		probably null	Het
Mthfs	G	A	9: 89,211,235	R14Q	probably damaging	Het
Muc2	T	A	7: 141,744,685	S25T		Het
Ncapd3	T	C	9: 27,063,361	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,292,953	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1020	A	G	2: 85,849,806	E118G	probably damaging	Het
Olfr1152	A	G	2: 87,868,651	Y220C	probably benign	Het
Olfr656	T	A	7: 104,618,253	C191*	probably null	Het
Opa3	A	G	7: 19,244,985	E125G	probably damaging	Het
P3h1	A	G	4: 119,236,862	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,935,985	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,005,565	N82K	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Qk	T	C	17: 10,318,803	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,408,518	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Scyl1	A	G	19: 5,760,825	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,812,872	V476L	possibly damaging	Het
Slc22a17	A	T	14: 54,908,908	F84I	probably benign	Het
Slc22a4	A	C	11: 53,997,443	I253S	possibly damaging	Het
Speer2	T	C	16: 69,860,524	H77R	possibly damaging	Het
Speg	T	C	1: 75,422,250	S2114P	probably damaging	Het
Synpo2	T	A	3: 123,117,392	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,933,279	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,716,086	V271D	probably benign	Het
Wdr66	A	G	5: 123,256,166	S373G	not run	Het
Zfp53	A	T	17: 21,509,012	T436S	probably benign	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
R1961: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
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'- TGGTACTCCATGTTGAAAATGTG -3'
(R):5'- TCAGCTTCTGCATCATAAAACTCAATG -3'

Sequencing Primer
(F):5'- GGCCATGCTACAAGGGTTCTTTAC -3'
(R):5'- TGTGTCCATGTGTGCACC -3'

Posted On

2020-01-23