Mutagenetix > Incidental Mutations

Incidental Mutation 'R1518:Pde7b'

167202

Institutional Source

Beutler Lab

Gene Symbol

Pde7b

Ensembl Gene

ENSMUSG00000019990

Gene Name

phosphodiesterase 7B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20398004-20725078 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20548121 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 3 (V3E)

Ref Sequence

ENSEMBL: ENSMUSP00000130596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020165] [ENSMUST00000164195] [ENSMUST00000169016] [ENSMUST00000169404] [ENSMUST00000170265]

Predicted Effect

probably benign
Transcript: ENSMUST00000020165

SMART Domains

Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990

Domain	Start	End	E-Value	Type
HDc	170	337	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164195
AA Change: V3E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: V3E

Domain	Start	End	E-Value	Type
HDc	222	389	9.04e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169016
AA Change: V3E

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

SMART Domains

Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990
AA Change: V3E

Domain	Start	End	E-Value	Type
low complexity region	103	116	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169404
AA Change: V3E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: V3E

Domain	Start	End	E-Value	Type
HDc	222	389	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170265

SMART Domains

Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
HDc	183	350	9.04e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170683

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,275,369	M493L	probably benign	Het
Abtb2	G	A	2: 103,709,284	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,342,603	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,871,469	T623A	possibly damaging	Het
Alox5	A	G	6: 116,413,780	F470S	probably damaging	Het
Angpt2	T	C	8: 18,705,839	E204G	probably benign	Het
Apip	A	G	2: 103,089,493	E138G	probably damaging	Het
Apob	C	T	12: 7,989,207	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 73,545,123		probably benign	Het
Atxn7l3	A	T	11: 102,294,514	D56E	probably benign	Het
Cacna1s	C	T	1: 136,098,551	A1092V	probably damaging	Het
Calr3	A	G	8: 72,427,200	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,926,051	D55V	probably benign	Het
Chid1	A	C	7: 141,528,471	V145G	probably damaging	Het
Chst15	T	C	7: 132,270,126	N142S	probably damaging	Het
Cnot4	C	T	6: 35,051,454	R409Q	probably damaging	Het
Cope	T	G	8: 70,312,761	I287S	possibly damaging	Het
Cpd	A	T	11: 76,840,386		probably null	Het
Cux1	G	T	5: 136,308,279	T785K	probably benign	Het
Dthd1	T	C	5: 62,822,040	S348P	probably damaging	Het
Eno3	G	T	11: 70,661,077	E64*	probably null	Het
Entpd1	T	A	19: 40,725,063	Y184*	probably null	Het
Erv3	A	T	2: 131,856,163	M92K	probably benign	Het
Flg2	T	A	3: 93,203,138	H824Q	unknown	Het
Fndc9	G	A	11: 46,238,103	G150S	probably benign	Het
Gdap1	G	A	1: 17,146,945	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,589,663	L394F	probably damaging	Het
Ift88	A	G	14: 57,430,628	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,333,826	I437L	probably benign	Het
Kras	T	A	6: 145,232,251	E98D	probably benign	Het
Lcorl	C	A	5: 45,734,201	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,630,576	I516V	probably benign	Het
Lrrc51	T	C	7: 101,915,596	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,947,492	A159T	probably damaging	Het
Magel2	G	A	7: 62,380,440	V1031I	unknown	Het
Man1c1	A	T	4: 134,580,789	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,335,852	A135S	possibly damaging	Het
Muc4	T	C	16: 32,750,349	S76P	possibly damaging	Het
Nin	T	G	12: 70,014,773	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,321,843	I585T	probably benign	Het
Npy1r	C	T	8: 66,704,195	A89V	probably benign	Het
Olfr1136	A	T	2: 87,693,528	M118K	probably damaging	Het
Olfr1220	G	A	2: 89,097,600	A109V	probably benign	Het
Olfr608	T	A	7: 103,470,042	M1K	probably null	Het
Olfr665	T	A	7: 104,881,308	Y200*	probably null	Het
Olfr743	T	C	14: 50,534,165	V251A	probably damaging	Het
Parp14	T	G	16: 35,856,638	T987P	possibly damaging	Het
Pdlim7	G	T	13: 55,508,294	Y104*	probably null	Het
Pgm2l1	A	G	7: 100,261,725	K292R	probably benign	Het
Plec	T	C	15: 76,188,201	E728G	probably damaging	Het
Plppr4	T	C	3: 117,335,503	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,247,895	N23K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prkca	T	C	11: 107,978,316	D57G	probably damaging	Het
Prkcb	A	G	7: 122,544,631		probably null	Het
Prl6a1	C	A	13: 27,318,927	Q169K	possibly damaging	Het
Prl6a1	A	T	13: 27,318,928	Q169L	probably null	Het
Psmd14	G	A	2: 61,760,991	R46H	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,247,582	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,140,280		probably benign	Het
Rbm25	A	T	12: 83,668,445	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,817,315	I35V	probably benign	Het
Sestd1	A	G	2: 77,241,632	Y49H	probably damaging	Het
Setd2	T	A	9: 110,602,238	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,671,874	C486*	probably null	Het
Spef2	T	A	15: 9,667,230	I791F	probably damaging	Het
Sptb	T	C	12: 76,604,024	T1726A	possibly damaging	Het
St5	A	G	7: 109,557,355	S63P	probably damaging	Het
Stk38l	T	A	6: 146,771,631	M296K	probably benign	Het
Taf5	T	C	19: 47,081,846	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,266,492	T316K	probably damaging	Het
Trpm2	A	G	10: 77,943,005	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,378,868	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,698,662	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,662,353	H399R	probably damaging	Het
Zfp984	A	T	4: 147,755,545	M283K	probably benign	Het

Other mutations in Pde7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Pde7b	APN	10	20619129	critical splice donor site	probably null
IGL01312:Pde7b	APN	10	20436194	critical splice donor site	probably null
IGL01728:Pde7b	APN	10	20434464	critical splice donor site	probably null
IGL01868:Pde7b	APN	10	20407165	nonsense	probably null
R0241:Pde7b	UTSW	10	20436216	missense	probably damaging	1.00
R0241:Pde7b	UTSW	10	20436216	missense	probably damaging	1.00
R0505:Pde7b	UTSW	10	20438746	missense	probably damaging	1.00
R1386:Pde7b	UTSW	10	20418801	missense	probably damaging	1.00
R1539:Pde7b	UTSW	10	20479686	missense	possibly damaging	0.75
R1547:Pde7b	UTSW	10	20434594	missense	probably damaging	1.00
R1571:Pde7b	UTSW	10	20413090	missense	probably benign	0.05
R1611:Pde7b	UTSW	10	20434490	missense	probably benign	0.14
R1722:Pde7b	UTSW	10	20436244	missense	probably damaging	1.00
R2275:Pde7b	UTSW	10	20400419	makesense	probably null
R4622:Pde7b	UTSW	10	20418792	missense	probably damaging	1.00
R4666:Pde7b	UTSW	10	20438750	missense	probably damaging	1.00
R4757:Pde7b	UTSW	10	20547942	missense	probably benign	0.01
R4823:Pde7b	UTSW	10	20438785	missense	probably damaging	1.00
R4889:Pde7b	UTSW	10	20548077	missense	probably benign	0.16
R4910:Pde7b	UTSW	10	20724734	unclassified	probably benign
R4923:Pde7b	UTSW	10	20413127	missense	probably damaging	0.98
R5349:Pde7b	UTSW	10	20619186	missense	probably damaging	0.99
R6258:Pde7b	UTSW	10	20440800	missense	possibly damaging	0.93
R6645:Pde7b	UTSW	10	20610566	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTACTGGACCCAGAGTGATGAGAC -3'
(R):5'- TCCAAGGCTGGAGAGGATTTCACG -3'

Sequencing Primer
(F):5'- CCACAGTCAGTTTACCTGGGAAG -3'
(R):5'- AAGAAATTCCCCTCTGGTGG -3'

Posted On

2014-04-13