Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Pde7a'

351892

Institutional Source

Beutler Lab

Gene Symbol

Pde7a

Ensembl Gene

ENSMUSG00000069094

Gene Name

phosphodiesterase 7A

Synonyms

MMRRC Submission

041924-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19223108-19311322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19260256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000096800 (fasta)

Gene Model

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

AlphaFold

P70453

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091314
AA Change: T33A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: T33A

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: T59A

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

SMART Domains

Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: T59A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121951
AA Change: T33A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113173
Gene: ENSMUSG00000069094
AA Change: T33A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143120

Predicted Effect

probably benign
Transcript: ENSMUST00000149081

Predicted Effect

probably damaging
Transcript: ENSMUST00000156652
AA Change: T59A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119685
Gene: ENSMUSG00000069094
AA Change: T59A

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,902	S12L	probably benign	Het
4921507P07Rik	G	T	6: 50,595,828	T35K	possibly damaging	Het
4931406P16Rik	T	C	7: 34,284,773	M142V	probably damaging	Het
Abce1	A	G	8: 79,687,486	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,492	N1278K	probably benign	Het
Adipor1	T	A	1: 134,424,905	I138N	probably damaging	Het
Aox2	C	T	1: 58,304,597	Q480*	probably null	Het
Arhgef38	C	T	3: 133,140,772		probably null	Het
Atmin	A	G	8: 116,957,959	D786G	probably damaging	Het
Capn1	A	T	19: 6,011,015	N253K	probably benign	Het
Cdh8	T	C	8: 99,024,902	T728A	possibly damaging	Het
Celsr1	A	G	15: 86,030,494	S1093P	probably damaging	Het
Cep135	C	A	5: 76,616,854	P560T	probably benign	Het
Chfr	C	T	5: 110,144,867	Q167*	probably null	Het
Chrna4	A	G	2: 181,037,493	S54P	probably damaging	Het
Cntln	A	G	4: 84,971,216	N312S	probably benign	Het
Cntn6	A	G	6: 104,728,284	E154G	probably benign	Het
Col6a6	T	A	9: 105,767,342	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,983,207	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933	E282K	probably benign	Het
Cryba2	C	T	1: 74,890,048	D179N	probably benign	Het
Daglb	A	T	5: 143,503,349	R654W	probably damaging	Het
Dennd3	A	G	15: 73,570,860	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,274,961	E405G	probably damaging	Het
Dnah10	T	C	5: 124,828,472	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,181,330	S238P	probably damaging	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Ebf1	A	G	11: 44,991,557	N447D	probably damaging	Het
Epg5	A	G	18: 78,012,864	N1751S	probably benign	Het
Exoc6	A	G	19: 37,570,505	D75G	probably damaging	Het
Extl2	T	A	3: 116,024,207	I70N	probably damaging	Het
Fam129c	G	T	8: 71,603,825	E390*	probably null	Het
Fanca	T	C	8: 123,268,972	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,894,910		probably null	Het
Foxa3	G	T	7: 19,014,372	C275*	probably null	Het
Foxred1	C	T	9: 35,210,855		probably benign	Het
Galr2	A	G	11: 116,283,629	T362A	probably benign	Het
Garem2	C	A	5: 30,114,667	R376S	probably damaging	Het
Gatc	T	A	5: 115,335,547	N111I	probably benign	Het
Gjb4	C	A	4: 127,351,778	K123N	probably damaging	Het
Gm14025	T	C	2: 129,038,230	H592R	probably benign	Het
Gm9894	T	C	13: 67,765,094		noncoding transcript	Het
Gtdc1	T	C	2: 44,591,925	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,421,205	I96V	probably benign	Het
Homer1	T	A	13: 93,402,159	I170N	probably damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Hoxb9	A	G	11: 96,274,831	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,571,336	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Lsm11	A	G	11: 45,933,813	S296P	probably damaging	Het
Macrod2	T	C	2: 142,217,599	L265P	probably damaging	Het
Mcu	G	A	10: 59,456,699	L53F	probably damaging	Het
Mpv17l2	A	G	8: 70,760,415	V104A	possibly damaging	Het
Myh10	G	A	11: 68,801,730		probably null	Het
Nemf	T	C	12: 69,312,280	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,531,405	S1395N	probably damaging	Het
Nlrp2	T	A	7: 5,319,189	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,336,780	L686*	probably null	Het
Nudt12os	T	A	17: 59,024,551		noncoding transcript	Het
Olfr1122	T	A	2: 87,387,876	I57K	probably damaging	Het
Olfr16	G	A	1: 172,957,590	S265N	probably benign	Het
Olfr180	T	C	16: 58,916,584	D19G	probably benign	Het
Olfr205	A	G	16: 59,329,210	Y100H	possibly damaging	Het
Olfr93	A	T	17: 37,151,379	S44T	possibly damaging	Het
Olfr944	T	A	9: 39,217,846	M163K	probably damaging	Het
Pde7b	A	C	10: 20,438,750	D203E	probably damaging	Het
Phkg2	T	A	7: 127,577,984	I94N	possibly damaging	Het
Pik3r2	G	A	8: 70,768,859	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,137,101	H68L	possibly damaging	Het
Prcd	A	G	11: 116,668,164		probably benign	Het
Prune2	C	T	19: 17,120,188	R1019*	probably null	Het
Psap	A	G	10: 60,300,545	D486G	probably benign	Het
Purb	A	T	11: 6,475,615	V91E	probably damaging	Het
Recql	C	A	6: 142,376,841	V112F	probably damaging	Het
Rptor	A	T	11: 119,743,882	I175F	probably damaging	Het
Sbf1	C	T	15: 89,295,246	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,655,613	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,538,581	N22K	possibly damaging	Het
Sorl1	A	T	9: 42,004,051	M1294K	probably damaging	Het
Sp6	C	A	11: 97,021,875	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408		probably benign	Het
Spon1	T	A	7: 114,028,969	M320K	probably benign	Het
Tceanc2	A	T	4: 107,165,560	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,314	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,671,271		probably null	Het
Tmprss11d	T	C	5: 86,309,401	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,337,496	V65D	probably damaging	Het
Trpm1	G	T	7: 64,203,034	L65F	probably damaging	Het
Tyk2	C	T	9: 21,114,207	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,610,377	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,574,868	S95T	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,893,503	W1222L	possibly damaging	Het
Vcan	C	A	13: 89,679,934	W2171L	probably damaging	Het
Vmn1r64	T	C	7: 5,884,358	N62S	probably damaging	Het
Vmn2r67	T	C	7: 85,150,623	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,544	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,688,383	R216H	probably damaging	Het

Other mutations in Pde7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Pde7a	APN	3	19229679	unclassified	probably benign
IGL02644:Pde7a	APN	3	19256867	splice site	probably benign
IGL02968:Pde7a	APN	3	19243121	nonsense	probably null
IGL02985:Pde7a	APN	3	19310883	missense	probably damaging	1.00
R0081:Pde7a	UTSW	3	19241533	splice site	probably benign
R0736:Pde7a	UTSW	3	19231043	missense	probably damaging	1.00
R0834:Pde7a	UTSW	3	19230318	missense	probably damaging	1.00
R1499:Pde7a	UTSW	3	19260244	missense	possibly damaging	0.49
R1955:Pde7a	UTSW	3	19227799	missense	probably damaging	0.99
R2943:Pde7a	UTSW	3	19230325	missense	probably damaging	1.00
R4072:Pde7a	UTSW	3	19256853	missense	probably damaging	1.00
R4366:Pde7a	UTSW	3	19310862	critical splice donor site	probably null
R4524:Pde7a	UTSW	3	19230976	missense	possibly damaging	0.93
R4698:Pde7a	UTSW	3	19310931	missense	probably damaging	0.99
R4850:Pde7a	UTSW	3	19243117	missense	probably benign
R4859:Pde7a	UTSW	3	19241491	intron	probably benign
R5283:Pde7a	UTSW	3	19260256	missense	probably damaging	1.00
R5646:Pde7a	UTSW	3	19233773	missense	probably damaging	1.00
R5702:Pde7a	UTSW	3	19241207	nonsense	probably null
R5756:Pde7a	UTSW	3	19264845	missense	probably benign	0.08
R5784:Pde7a	UTSW	3	19264845	missense	probably benign	0.08
R6301:Pde7a	UTSW	3	19243163	missense	probably benign	0.01
R7136:Pde7a	UTSW	3	19231094	missense	probably benign	0.36
R7291:Pde7a	UTSW	3	19227674	missense	probably benign
R7685:Pde7a	UTSW	3	19227745	missense	probably damaging	1.00
R8032:Pde7a	UTSW	3	19260265	missense	possibly damaging	0.95
R8884:Pde7a	UTSW	3	19227694	missense	probably benign
R9408:Pde7a	UTSW	3	19233794	missense	possibly damaging	0.95
R9648:Pde7a	UTSW	3	19256802	missense	probably damaging	1.00
R9716:Pde7a	UTSW	3	19231003	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCGCAAGACTAACTGGTACTGG -3'
(R):5'- TTTCCAGAGCAGATGCATTTTG -3'

Sequencing Primer
(F):5'- GAAGGTCCTGAGTTCAAATCCTAGC -3'
(R):5'- TACAAGCATGTTCACTGAA -3'

Posted On

2015-10-08