Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Pde7b'

378796

Institutional Source

Beutler Lab

Gene Symbol

Pde7b

Ensembl Gene

ENSMUSG00000019990

Gene Name

phosphodiesterase 7B

Synonyms

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20273750-20600824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20288873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 325 (Q325K)

Ref Sequence

ENSEMBL: ENSMUSP00000132378 (fasta)

Gene Model

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

AlphaFold

Q9QXQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020165
AA Change: Q273K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: Q273K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164195
AA Change: Q325K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: Q325K

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: Q325K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: Q325K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170265
AA Change: Q286K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: Q286K

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

0.0927

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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
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'- TTACCATGGCTTGCAGCTCC -3'
(R):5'- CTGACAGAAGACTCGCTCTCAG -3'

Sequencing Primer
(F):5'- TGCAGCTCCTCAAACGTG -3'
(R):5'- AAGACTCGCTCTCAGGCTGTG -3'

Posted On

2016-04-15