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

Dpde4, dunce

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101944740-102464456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102454657 bp (GRCm39)

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
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Plekhg4	A	G	8: 106,108,096 (GRCm39)	E982G	probably damaging	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Serpinf1	C	T	11: 75,307,245 (GRCm39)	V31I	probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,000,519 (GRCm39)	T166M	probably benign	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Usp33	T	C	3: 152,086,265 (GRCm39)	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	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
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
R4627:Pde4b	UTSW	4	102,458,802 (GRCm39)	missense	probably damaging	1.00
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'- GTTATCATGAAGAGGAGATACAGCC -3'
(R):5'- ACGTCTTCAGAAGGTCTCTTTC -3'

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

Posted On

2015-05-19