Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Pde4b'

348845

Institutional Source

Beutler Lab

Gene Symbol

Pde4b

Ensembl Gene

ENSMUSG00000028525

Gene Name

phosphodiesterase 4B, cAMP specific

Synonyms

Dpde4, dunce

MMRRC Submission

041892-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101944740-102464456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102458802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 486 (L486S)

Ref Sequence

ENSEMBL: ENSMUSP00000102524 (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: L234S

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

SMART Domains

Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525
AA Change: L234S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097949
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: L253S

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: L314S

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

SMART Domains

Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525
AA Change: L314S

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: L253S

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

SMART Domains

Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: L253S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106904
AA Change: L409S

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

SMART Domains

Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: L409S

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: L471S

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

SMART Domains

Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: L471S

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: L486S

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

SMART Domains

Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: L486S

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Apbb2	C	T	5: 66,557,419 (GRCm39)		probably null	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mmachc	A	T	4: 116,560,668 (GRCm39)	S276T	probably damaging	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,753,623 (GRCm39)	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Ripk4	A	T	16: 97,545,226 (GRCm39)	S474T	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	probably damaging	Het

Other mutations in Pde4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Pde4b	APN	4	102,363,241 (GRCm39)	critical splice donor site	probably null
IGL01146:Pde4b	APN	4	102,112,460 (GRCm39)	missense	possibly damaging	0.80
IGL01377:Pde4b	APN	4	102,344,599 (GRCm39)	missense	probably damaging	1.00
IGL01549:Pde4b	APN	4	102,462,265 (GRCm39)	missense	probably damaging	0.97
IGL01739:Pde4b	APN	4	102,458,832 (GRCm39)	missense	probably damaging	0.97
IGL01791:Pde4b	APN	4	102,448,127 (GRCm39)	splice site	probably benign
IGL02211:Pde4b	APN	4	102,448,019 (GRCm39)	splice site	probably benign
IGL02578:Pde4b	APN	4	102,112,494 (GRCm39)	missense	possibly damaging	0.94
IGL02878:Pde4b	APN	4	102,458,836 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Pde4b	UTSW	4	102,459,875 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Pde4b	UTSW	4	102,460,009 (GRCm39)	missense	probably benign	0.09
R0102:Pde4b	UTSW	4	102,447,375 (GRCm39)	missense	probably benign	0.15
R0230:Pde4b	UTSW	4	102,454,707 (GRCm39)	missense	probably benign	0.01
R0530:Pde4b	UTSW	4	102,459,848 (GRCm39)	missense	probably damaging	0.96
R0704:Pde4b	UTSW	4	102,344,589 (GRCm39)	missense	probably damaging	0.99
R1115:Pde4b	UTSW	4	102,399,352 (GRCm39)	intron	probably benign
R1450:Pde4b	UTSW	4	102,458,832 (GRCm39)	missense	probably damaging	0.97
R1457:Pde4b	UTSW	4	102,462,373 (GRCm39)	missense	probably damaging	0.99
R1568:Pde4b	UTSW	4	102,454,896 (GRCm39)	missense	probably damaging	1.00
R1740:Pde4b	UTSW	4	102,344,548 (GRCm39)	missense	probably damaging	1.00
R1784:Pde4b	UTSW	4	102,462,457 (GRCm39)	missense	probably benign	0.02
R1960:Pde4b	UTSW	4	102,454,657 (GRCm39)	missense	probably damaging	0.99
R1961:Pde4b	UTSW	4	102,454,657 (GRCm39)	missense	probably damaging	0.99
R2033:Pde4b	UTSW	4	102,462,492 (GRCm39)	missense	probably benign	0.43
R2210:Pde4b	UTSW	4	102,454,672 (GRCm39)	missense	probably damaging	1.00
R2848:Pde4b	UTSW	4	102,458,742 (GRCm39)	missense	probably damaging	1.00
R2936:Pde4b	UTSW	4	102,458,742 (GRCm39)	missense	probably damaging	1.00
R3195:Pde4b	UTSW	4	102,456,840 (GRCm39)	missense	probably damaging	0.99
R3196:Pde4b	UTSW	4	102,456,840 (GRCm39)	missense	probably damaging	0.99
R3695:Pde4b	UTSW	4	102,458,742 (GRCm39)	missense	probably damaging	1.00
R3699:Pde4b	UTSW	4	102,458,742 (GRCm39)	missense	probably damaging	1.00
R4014:Pde4b	UTSW	4	102,412,822 (GRCm39)	missense	probably benign	0.00
R4852:Pde4b	UTSW	4	102,454,967 (GRCm39)	missense	probably damaging	1.00
R5055:Pde4b	UTSW	4	102,052,311 (GRCm39)	intron	probably benign
R5109:Pde4b	UTSW	4	102,458,741 (GRCm39)	missense	probably damaging	1.00
R5319:Pde4b	UTSW	4	102,278,985 (GRCm39)	utr 3 prime	probably benign
R5476:Pde4b	UTSW	4	102,459,896 (GRCm39)	missense	probably benign	0.00
R5576:Pde4b	UTSW	4	102,287,359 (GRCm39)	missense	probably damaging	0.98
R6019:Pde4b	UTSW	4	102,427,966 (GRCm39)	missense	possibly damaging	0.56
R6151:Pde4b	UTSW	4	102,458,748 (GRCm39)	missense	probably damaging	1.00
R6540:Pde4b	UTSW	4	102,459,073 (GRCm39)	missense	probably damaging	1.00
R6573:Pde4b	UTSW	4	102,287,359 (GRCm39)	missense	probably damaging	0.98
R6662:Pde4b	UTSW	4	102,459,095 (GRCm39)	missense	possibly damaging	0.82
R6751:Pde4b	UTSW	4	102,459,868 (GRCm39)	missense	probably damaging	0.98
R7066:Pde4b	UTSW	4	102,460,003 (GRCm39)	missense	probably benign	0.03
R7092:Pde4b	UTSW	4	102,459,048 (GRCm39)	missense	probably damaging	1.00
R7461:Pde4b	UTSW	4	102,112,503 (GRCm39)	missense	probably damaging	1.00
R7613:Pde4b	UTSW	4	102,112,503 (GRCm39)	missense	probably damaging	1.00
R8068:Pde4b	UTSW	4	102,453,212 (GRCm39)	missense	probably damaging	1.00
R8296:Pde4b	UTSW	4	102,459,983 (GRCm39)	missense	possibly damaging	0.76
R8732:Pde4b	UTSW	4	102,412,822 (GRCm39)	missense	probably null	0.00
R9070:Pde4b	UTSW	4	102,458,994 (GRCm39)	missense	probably damaging	1.00
R9111:Pde4b	UTSW	4	102,454,657 (GRCm39)	missense	probably damaging	0.99
R9114:Pde4b	UTSW	4	102,459,826 (GRCm39)	missense	probably damaging	1.00
R9295:Pde4b	UTSW	4	102,112,478 (GRCm39)	missense	probably damaging	0.99
R9384:Pde4b	UTSW	4	102,112,448 (GRCm39)	missense	probably benign
R9516:Pde4b	UTSW	4	102,462,183 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCTCTAGTATGTAATGACCTATGG -3'
(R):5'- TTGCCAACACCTTGAGCAAAG -3'

Sequencing Primer
(F):5'- ATGACCTATGGATGATGACTCTTG -3'
(R):5'- CCTTGAGCAAAGACAGAATTAAAAC -3'

Posted On

2015-10-08