Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Pde7a'

441124

Institutional Source

Beutler Lab

Gene Symbol

Pde7a

Ensembl Gene

ENSMUSG00000069094

Gene Name

phosphodiesterase 7A

Synonyms

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19277272-19365486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19287937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 244 (L244Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091314] [ENSMUST00000099195] [ENSMUST00000121951] [ENSMUST00000149081] [ENSMUST00000156652]

AlphaFold

P70453

Predicted Effect

probably damaging
Transcript: ENSMUST00000091314
AA Change: L218Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: L218Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
HDc	183	350	2.91e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099195
AA Change: L244Q

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

SMART Domains

Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: L244Q

Domain	Start	End	E-Value	Type
low complexity region	21	37	N/A	INTRINSIC
HDc	209	376	2.91e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121951

SMART Domains

Protein: ENSMUSP00000113173
Gene: ENSMUSG00000069094

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148590

Predicted Effect

probably benign
Transcript: ENSMUST00000149081

Predicted Effect

probably benign
Transcript: ENSMUST00000156652

SMART Domains

Protein: ENSMUSP00000119685
Gene: ENSMUSG00000069094

Domain	Start	End	E-Value	Type
low complexity region	21	37	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous inactivation of this locus does not impair T cell function but affects the humoral immune response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	C	A	5: 34,788,024 (GRCm39)	A691D	probably benign	Het
Agap3	C	A	5: 24,688,395 (GRCm39)	D394E	probably benign	Het
Arhgef11	T	C	3: 87,591,793 (GRCm39)	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,052,277 (GRCm39)	V402A	probably benign	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Bsn	A	T	9: 107,987,631 (GRCm39)		probably benign	Het
Camk1	A	G	6: 113,316,301 (GRCm39)	V81A	probably damaging	Het
Cass4	T	G	2: 172,258,165 (GRCm39)	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,879,699 (GRCm39)	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 179,933,659 (GRCm39)	E766G	probably damaging	Het
Cdcp2	T	C	4: 106,962,339 (GRCm39)	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,371 (GRCm39)	E118K	probably damaging	Het
Col4a2	G	A	8: 11,491,281 (GRCm39)	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,336,665 (GRCm39)	T5A	probably benign	Het
Dlg5	T	A	14: 24,208,767 (GRCm39)	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,174,515 (GRCm39)	S405F	possibly damaging	Het
Drd2	A	G	9: 49,316,212 (GRCm39)	K324R	probably benign	Het
Ergic1	T	C	17: 26,833,332 (GRCm39)	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,087,338 (GRCm39)		probably benign	Het
Foxd2	C	T	4: 114,765,832 (GRCm39)	A63T	unknown	Het
Gfap	T	C	11: 102,782,282 (GRCm39)	I409M	probably benign	Het
Gfpt1	A	G	6: 87,019,981 (GRCm39)	M1V	probably null	Het
H2-T23	C	G	17: 36,342,695 (GRCm39)	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,457,595 (GRCm39)	R704W	probably damaging	Het
Kif19a	A	C	11: 114,670,480 (GRCm39)	D130A	probably damaging	Het
Lin7b	T	C	7: 45,018,617 (GRCm39)	D14G	probably damaging	Het
Meioc	T	A	11: 102,566,083 (GRCm39)	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,711,663 (GRCm39)	G68*	probably null	Het
Mitf	A	T	6: 97,990,655 (GRCm39)	I184F	probably damaging	Het
Mmp9	T	A	2: 164,790,970 (GRCm39)	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,407,346 (GRCm39)	H2768L	probably benign	Het
Myh2	A	T	11: 67,079,638 (GRCm39)	I1032F	probably benign	Het
Myo3b	T	C	2: 70,144,774 (GRCm39)	I1110T	probably damaging	Het
Nde1	T	C	16: 13,987,378 (GRCm39)	F8L	probably damaging	Het
Or10aa3	C	T	1: 173,878,853 (GRCm39)	Q305*	probably null	Het
Or2a25	A	G	6: 42,888,457 (GRCm39)		probably null	Het
Or2h2b-ps1	T	C	17: 37,480,808 (GRCm39)	I244V	probably benign	Het
Or4f47	T	C	2: 111,973,028 (GRCm39)	V246A	possibly damaging	Het
Or51r1	A	C	7: 102,228,512 (GRCm39)	Y270S	possibly damaging	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c202	T	C	10: 128,996,706 (GRCm39)	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,859,823 (GRCm39)	H293R	probably benign	Het
Pex14	T	C	4: 149,045,910 (GRCm39)	D340G	probably benign	Het
Pfkfb4	A	T	9: 108,837,489 (GRCm39)	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,005,186 (GRCm39)	G361W	probably damaging	Het
Prkcg	T	A	7: 3,377,597 (GRCm39)	M517K	probably damaging	Het
Prob1	A	T	18: 35,787,167 (GRCm39)	F362L	probably benign	Het
Rims4	C	T	2: 163,705,937 (GRCm39)	W232*	probably null	Het
Robo2	T	C	16: 73,758,707 (GRCm39)	D688G	probably damaging	Het
Sec24c	C	A	14: 20,729,641 (GRCm39)	A73E	probably benign	Het
Slc15a3	A	G	19: 10,820,574 (GRCm39)	N64D	probably benign	Het
Smg1	A	T	7: 117,811,782 (GRCm39)	N65K	probably benign	Het
Spata31h1	A	G	10: 82,119,610 (GRCm39)	S4467P	probably damaging	Het
Sptb	G	T	12: 76,634,215 (GRCm39)	D2165E	probably benign	Het
Sptbn5	A	T	2: 119,879,292 (GRCm39)		noncoding transcript	Het
Syt12	A	T	19: 4,506,569 (GRCm39)	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,636,671 (GRCm39)	V126A	probably benign	Het
Thbs3	T	C	3: 89,126,405 (GRCm39)	L242P	probably damaging	Het
Timp2	A	T	11: 118,208,358 (GRCm39)		probably null	Het
Tmtc1	G	A	6: 148,148,329 (GRCm39)	A751V	probably damaging	Het
Tnni2	A	T	7: 141,997,650 (GRCm39)	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,162,307 (GRCm39)	P319L	probably damaging	Het
Ttc6	A	T	12: 57,622,805 (GRCm39)	K68M	probably damaging	Het
Usp25	G	A	16: 76,847,360 (GRCm39)	R156Q	probably benign	Het
Vill	A	T	9: 118,900,230 (GRCm39)	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,012,223 (GRCm39)	T4S	probably benign	Het
Vmn2r76	C	A	7: 85,875,261 (GRCm39)	C572F	probably damaging	Het
Vps26a	A	C	10: 62,304,077 (GRCm39)	N181K	probably damaging	Het
Xirp2	T	C	2: 67,341,134 (GRCm39)	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,351,501 (GRCm39)	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526 (GRCm39)	D144G	probably benign	Het
Zfp600	T	C	4: 146,131,670 (GRCm39)	S113P	probably damaging	Het
Zfp84	C	T	7: 29,475,818 (GRCm39)	T170M	probably benign	Het
Zmiz2	T	A	11: 6,352,837 (GRCm39)	D654E	probably damaging	Het
Zswim4	A	T	8: 84,957,739 (GRCm39)		probably null	Het

Other mutations in Pde7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Pde7a	APN	3	19,283,843 (GRCm39)	unclassified	probably benign
IGL02644:Pde7a	APN	3	19,311,031 (GRCm39)	splice site	probably benign
IGL02968:Pde7a	APN	3	19,297,285 (GRCm39)	nonsense	probably null
IGL02985:Pde7a	APN	3	19,365,047 (GRCm39)	missense	probably damaging	1.00
R0081:Pde7a	UTSW	3	19,295,697 (GRCm39)	splice site	probably benign
R0736:Pde7a	UTSW	3	19,285,207 (GRCm39)	missense	probably damaging	1.00
R0834:Pde7a	UTSW	3	19,284,482 (GRCm39)	missense	probably damaging	1.00
R1499:Pde7a	UTSW	3	19,314,408 (GRCm39)	missense	possibly damaging	0.49
R1955:Pde7a	UTSW	3	19,281,963 (GRCm39)	missense	probably damaging	0.99
R2943:Pde7a	UTSW	3	19,284,489 (GRCm39)	missense	probably damaging	1.00
R4072:Pde7a	UTSW	3	19,311,017 (GRCm39)	missense	probably damaging	1.00
R4366:Pde7a	UTSW	3	19,365,026 (GRCm39)	critical splice donor site	probably null
R4524:Pde7a	UTSW	3	19,285,140 (GRCm39)	missense	possibly damaging	0.93
R4666:Pde7a	UTSW	3	19,314,420 (GRCm39)	missense	probably damaging	1.00
R4698:Pde7a	UTSW	3	19,365,095 (GRCm39)	missense	probably damaging	0.99
R4850:Pde7a	UTSW	3	19,297,281 (GRCm39)	missense	probably benign
R4859:Pde7a	UTSW	3	19,295,655 (GRCm39)	intron	probably benign
R5283:Pde7a	UTSW	3	19,314,420 (GRCm39)	missense	probably damaging	1.00
R5702:Pde7a	UTSW	3	19,295,371 (GRCm39)	nonsense	probably null
R5756:Pde7a	UTSW	3	19,319,009 (GRCm39)	missense	probably benign	0.08
R5784:Pde7a	UTSW	3	19,319,009 (GRCm39)	missense	probably benign	0.08
R6301:Pde7a	UTSW	3	19,297,327 (GRCm39)	missense	probably benign	0.01
R7136:Pde7a	UTSW	3	19,285,258 (GRCm39)	missense	probably benign	0.36
R7291:Pde7a	UTSW	3	19,281,838 (GRCm39)	missense	probably benign
R7685:Pde7a	UTSW	3	19,281,909 (GRCm39)	missense	probably damaging	1.00
R8032:Pde7a	UTSW	3	19,314,429 (GRCm39)	missense	possibly damaging	0.95
R8884:Pde7a	UTSW	3	19,281,858 (GRCm39)	missense	probably benign
R9408:Pde7a	UTSW	3	19,287,958 (GRCm39)	missense	possibly damaging	0.95
R9648:Pde7a	UTSW	3	19,310,966 (GRCm39)	missense	probably damaging	1.00
R9716:Pde7a	UTSW	3	19,285,167 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATTTGTGGAGTGAGCAACGTG -3'
(R):5'- TGCTGCTTCATGACCTAGC -3'

Sequencing Primer
(F):5'- CTAGTAAGCTCAAGGGATCCTCTTG -3'
(R):5'- ACCTAGCAGTTGTCCCACTGAG -3'

Posted On

2016-11-08