Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Pde7b'

544487

Institutional Source

Beutler Lab

Gene Symbol

Pde7b

Ensembl Gene

ENSMUSG00000019990

Gene Name

phosphodiesterase 7B

Synonyms

MMRRC Submission

045105-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20273750-20600824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20319038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 95 (S95P)

Ref Sequence

ENSEMBL: ENSMUSP00000126324 (fasta)

Gene Model

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

AlphaFold

Q9QXQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020165
AA Change: S82P

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

SMART Domains

Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: S82P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164195
AA Change: S134P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: S134P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169016

SMART Domains

Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169404
AA Change: S134P

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

SMART Domains

Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: S134P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170265
AA Change: S95P

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

SMART Domains

Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: S95P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,823 (GRCm39)	A525T	probably benign	Het
Abcc6	A	G	7: 45,654,946 (GRCm39)	I515T	possibly damaging	Het
Abi1	G	A	2: 22,832,053 (GRCm39)	A420V	probably damaging	Het
Abtb2	A	T	2: 103,542,787 (GRCm39)	I887F	possibly damaging	Het
Acap3	G	A	4: 155,988,306 (GRCm39)	G602S	possibly damaging	Het
Auts2	T	A	5: 131,469,056 (GRCm39)	T754S	probably benign	Het
AW551984	T	C	9: 39,512,085 (GRCm39)	R12G	probably benign	Het
Bcan	G	A	3: 87,895,686 (GRCm39)	R817*	probably null	Het
Bmp10	A	G	6: 87,411,175 (GRCm39)	T323A	probably benign	Het
Bpnt1	T	C	1: 185,082,053 (GRCm39)	L165P	probably damaging	Het
Casz1	G	A	4: 149,013,693 (GRCm39)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,615,743 (GRCm39)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,895,080 (GRCm39)	F189L	probably benign	Het
Cep72	A	G	13: 74,206,444 (GRCm39)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,174,295 (GRCm39)	T483S	probably damaging	Het
Cfi	C	A	3: 129,666,522 (GRCm39)	T415K	probably damaging	Het
Chrna7	A	G	7: 62,755,787 (GRCm39)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,475,051 (GRCm39)	H596R	unknown	Het
Cplx3	G	C	9: 57,523,231 (GRCm39)	Q109E	probably benign	Het
Cyp2j8	A	T	4: 96,335,588 (GRCm39)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,399,980 (GRCm39)		probably null	Het
Dhdh	T	C	7: 45,124,698 (GRCm39)	K332E	possibly damaging	Het
Dnah11	C	A	12: 117,981,396 (GRCm39)	C2590F	probably damaging	Het
Dnah17	T	C	11: 117,916,528 (GRCm39)		probably null	Het
Dtx1	A	G	5: 120,833,148 (GRCm39)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,058,814 (GRCm39)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,808,208 (GRCm39)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,204,206 (GRCm39)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,330,285 (GRCm39)	Y521H	probably benign	Het
F5	C	T	1: 164,007,075 (GRCm39)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,146,560 (GRCm39)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,309,549 (GRCm39)		probably benign	Het
Flrt3	G	A	2: 140,502,804 (GRCm39)	R275*	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Fscn1	T	A	5: 142,946,382 (GRCm39)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,811,418 (GRCm39)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,491,143 (GRCm39)	S694G	probably benign	Het
Iglon5	A	T	7: 43,126,254 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,361,892 (GRCm39)	T874A	probably benign	Het
Lamc2	T	A	1: 153,041,873 (GRCm39)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,066,777 (GRCm39)	D37E	probably benign	Het
Loxhd1	T	C	18: 77,460,129 (GRCm39)		probably null	Het
Lxn	T	G	3: 67,369,704 (GRCm39)	E60D	probably benign	Het
Man2b2	A	G	5: 36,979,213 (GRCm39)	W276R	probably damaging	Het
Mast1	T	C	8: 85,655,598 (GRCm39)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,058,897 (GRCm39)	R923Q	probably benign	Het
Obscn	A	G	11: 59,026,864 (GRCm39)	L113P	probably damaging	Het
Ocln	C	T	13: 100,671,470 (GRCm39)		probably null	Het
Oog2	A	T	4: 143,921,897 (GRCm39)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,624,338 (GRCm39)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,341,987 (GRCm39)		probably benign	Het
Osbpl3	A	G	6: 50,274,137 (GRCm39)	S826P	probably damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,441,968 (GRCm39)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,859,946 (GRCm39)	I334K	probably benign	Het
Pik3cg	A	T	12: 32,242,128 (GRCm39)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,817,692 (GRCm39)	M148V	probably benign	Het
Plbd1	T	G	6: 136,589,836 (GRCm39)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 110,257,221 (GRCm39)	E594G	possibly damaging	Het
Pold3	A	T	7: 99,755,865 (GRCm39)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,487,783 (GRCm39)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,357,828 (GRCm39)		probably null	Het
Scarb2	T	C	5: 92,601,934 (GRCm39)	D320G	probably benign	Het
Sdk2	T	C	11: 113,693,995 (GRCm39)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,794,222 (GRCm39)	T204N	probably benign	Het
Slc23a2	T	C	2: 131,936,123 (GRCm39)	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476 (GRCm39)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,708,582 (GRCm39)	G128S	probably benign	Het
Supt16	A	T	14: 52,408,907 (GRCm39)	S822R	probably damaging	Het
Syn3	T	C	10: 85,916,116 (GRCm39)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,938,599 (GRCm39)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm39)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trim24	C	A	6: 37,935,613 (GRCm39)	T832K	probably benign	Het
Ubr4	C	T	4: 139,141,715 (GRCm39)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,490,492 (GRCm39)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,593,762 (GRCm39)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,208,819 (GRCm39)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,687,693 (GRCm39)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,107,206 (GRCm39)	Y432*	probably null	Het

Other mutations in Pde7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Pde7b	APN	10	20,494,875 (GRCm39)	critical splice donor site	probably null
IGL01312:Pde7b	APN	10	20,311,940 (GRCm39)	critical splice donor site	probably null
IGL01728:Pde7b	APN	10	20,310,210 (GRCm39)	critical splice donor site	probably null
IGL01868:Pde7b	APN	10	20,282,911 (GRCm39)	nonsense	probably null
PIT4431001:Pde7b	UTSW	10	20,276,291 (GRCm39)	missense	possibly damaging	0.77
R0241:Pde7b	UTSW	10	20,311,962 (GRCm39)	missense	probably damaging	1.00
R0241:Pde7b	UTSW	10	20,311,962 (GRCm39)	missense	probably damaging	1.00
R0505:Pde7b	UTSW	10	20,314,492 (GRCm39)	missense	probably damaging	1.00
R1386:Pde7b	UTSW	10	20,294,547 (GRCm39)	missense	probably damaging	1.00
R1518:Pde7b	UTSW	10	20,423,867 (GRCm39)	missense	probably damaging	1.00
R1539:Pde7b	UTSW	10	20,355,432 (GRCm39)	missense	possibly damaging	0.75
R1547:Pde7b	UTSW	10	20,310,340 (GRCm39)	missense	probably damaging	1.00
R1571:Pde7b	UTSW	10	20,288,836 (GRCm39)	missense	probably benign	0.05
R1611:Pde7b	UTSW	10	20,310,236 (GRCm39)	missense	probably benign	0.14
R1722:Pde7b	UTSW	10	20,311,990 (GRCm39)	missense	probably damaging	1.00
R2275:Pde7b	UTSW	10	20,276,165 (GRCm39)	makesense	probably null
R4622:Pde7b	UTSW	10	20,294,538 (GRCm39)	missense	probably damaging	1.00
R4666:Pde7b	UTSW	10	20,314,496 (GRCm39)	missense	probably damaging	1.00
R4757:Pde7b	UTSW	10	20,423,688 (GRCm39)	missense	probably benign	0.01
R4823:Pde7b	UTSW	10	20,314,531 (GRCm39)	missense	probably damaging	1.00
R4889:Pde7b	UTSW	10	20,423,823 (GRCm39)	missense	probably benign	0.16
R4910:Pde7b	UTSW	10	20,600,480 (GRCm39)	unclassified	probably benign
R4923:Pde7b	UTSW	10	20,288,873 (GRCm39)	missense	probably damaging	0.98
R5349:Pde7b	UTSW	10	20,494,932 (GRCm39)	missense	probably damaging	0.99
R6258:Pde7b	UTSW	10	20,316,546 (GRCm39)	missense	possibly damaging	0.93
R6645:Pde7b	UTSW	10	20,486,312 (GRCm39)	critical splice donor site	probably null
R7510:Pde7b	UTSW	10	20,288,761 (GRCm39)	missense	possibly damaging	0.83
R7717:Pde7b	UTSW	10	20,282,937 (GRCm39)	missense	probably benign	0.05
R7817:Pde7b	UTSW	10	20,319,051 (GRCm39)	missense	probably damaging	1.00
R8692:Pde7b	UTSW	10	20,423,639 (GRCm39)	missense	probably benign	0.10
R8837:Pde7b	UTSW	10	20,314,469 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGCACTTTAAGCACGGGG -3'
(R):5'- GGCCATATTCAACTTGATTTAGCC -3'

Sequencing Primer
(F):5'- GCATGGAGCTCAGTGACATACTTAC -3'
(R):5'- CAACTTGATTTAGCCTTTAAAGTGTC -3'

Posted On

2019-05-13