Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Pde7b'

582037

Institutional Source

Beutler Lab

Gene Symbol

Pde7b

Ensembl Gene

ENSMUSG00000019990

Gene Name

phosphodiesterase 7B

Synonyms

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20273750-20600824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20288761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 310 (D310G)

Ref Sequence

ENSEMBL: ENSMUSP00000020165 (fasta)

Gene Model

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

AlphaFold

Q9QXQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020165
AA Change: D310G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: D310G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164195
AA Change: D362G

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: D362G

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

possibly damaging
Transcript: ENSMUST00000169404
AA Change: D362G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: D362G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170265
AA Change: D323G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: D323G

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

Meta Mutation Damage Score

0.1754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Bend4	A	G	5: 67,584,727 (GRCm39)	F66L	unknown	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Ghsr	A	T	3: 27,426,523 (GRCm39)	D193V	probably benign	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nrf1	C	T	6: 30,151,633 (GRCm39)	T490I	possibly damaging	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or5v1b	T	A	17: 37,841,480 (GRCm39)	I204N	probably damaging	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Tssc4	G	A	7: 142,623,718 (GRCm39)	E9K	possibly damaging	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	probably benign	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
R7000:Pde7b	UTSW	10	20,319,038 (GRCm39)	missense	probably damaging	1.00
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'- GTTTGGAAAGCACTTAACAGCTG -3'
(R):5'- GCTAAAGAGTCAAGCCACGG -3'

Sequencing Primer
(F):5'- ACAGCTGCATGTCTTTCAGAG -3'
(R):5'- TGGTGCAAGAATCGATCACTCTG -3'

Posted On

2019-10-17