Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Pde7a'

566391

Institutional Source

Beutler Lab

Gene Symbol

Pde7a

Ensembl Gene

ENSMUSG00000069094

Gene Name

phosphodiesterase 7A

Synonyms

MMRRC Submission

045322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19277272-19365486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19281838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 471 (N471D)

Ref Sequence

ENSEMBL: ENSMUSP00000096800 (fasta)

Gene Model

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

AlphaFold

P70453

Predicted Effect

probably benign
Transcript: ENSMUST00000091314
AA Change: N445D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: N445D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099195
AA Change: N471D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: N471D

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: ENSMUST00000149081

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,699 (GRCm39)	E51G	possibly damaging	Het
Abca14	C	A	7: 119,888,832 (GRCm39)	C1259*	probably null	Het
Ablim1	T	C	19: 57,204,340 (GRCm39)	E17G	probably benign	Het
Acsf3	G	A	8: 123,540,316 (GRCm39)	V505I	probably benign	Het
Actn1	T	C	12: 80,220,859 (GRCm39)	M650V	probably benign	Het
Adamts4	G	A	1: 171,084,097 (GRCm39)	V525I	probably benign	Het
Adh1	T	C	3: 137,988,569 (GRCm39)	Y181H	probably damaging	Het
Alpl	G	A	4: 137,480,009 (GRCm39)	R168W	probably damaging	Het
Ate1	T	G	7: 130,121,661 (GRCm39)	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,668,288 (GRCm39)	F314L	probably damaging	Het
Baiap3	T	A	17: 25,463,291 (GRCm39)	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C1s2	T	A	6: 124,602,343 (GRCm39)	I623F	probably benign	Het
Card11	T	C	5: 140,886,825 (GRCm39)	D308G	probably damaging	Het
Cul9	C	T	17: 46,851,359 (GRCm39)	V354I	probably benign	Het
Dnah1	A	T	14: 31,020,662 (GRCm39)	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590 (GRCm39)	I4266F	possibly damaging	Het
Ear10	A	T	14: 44,160,377 (GRCm39)	V150D	probably damaging	Het
Elfn2	C	T	15: 78,557,183 (GRCm39)	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792 (GRCm39)	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895 (GRCm39)	H104Q	probably benign	Het
Fcgbp	A	G	7: 27,800,817 (GRCm39)	N1288D	probably benign	Het
Fcgbpl1	A	C	7: 27,839,645 (GRCm39)	D486A	probably benign	Het
Fcrl1	T	C	3: 87,293,088 (GRCm39)		probably null	Het
Fmo2	G	T	1: 162,715,271 (GRCm39)	P117Q	probably benign	Het
Fsip2	A	G	2: 82,810,863 (GRCm39)	K2394R	possibly damaging	Het
Gab1	T	G	8: 81,526,780 (GRCm39)	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,258,721 (GRCm39)	V248A	probably damaging	Het
Gemin6	T	C	17: 80,535,204 (GRCm39)	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Gm3250	T	C	10: 77,618,061 (GRCm39)	T106A	unknown	Het
Gm7356	T	C	17: 14,221,843 (GRCm39)	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,774,689 (GRCm39)	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,636,621 (GRCm39)	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,972,122 (GRCm39)	L716S	probably damaging	Het
Hecw2	A	G	1: 53,953,753 (GRCm39)	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,802,381 (GRCm39)	S151N	probably benign	Het
Il15ra	C	T	2: 11,723,192 (GRCm39)	T72I	probably damaging	Het
Ints1	A	G	5: 139,750,829 (GRCm39)	L858P	probably damaging	Het
Kat2a	C	T	11: 100,601,726 (GRCm39)	V230I	possibly damaging	Het
Kcnq2	A	T	2: 180,730,172 (GRCm39)	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,506,611 (GRCm39)	T229I	possibly damaging	Het
Ly75	T	A	2: 60,160,337 (GRCm39)	I957F	probably damaging	Het
Map3k12	T	A	15: 102,410,601 (GRCm39)	R459W	probably damaging	Het
Mia2	T	A	12: 59,205,155 (GRCm39)		probably null	Het
Mrgprf	A	G	7: 144,861,206 (GRCm39)	I53V	unknown	Het
Mttp	A	G	3: 137,796,964 (GRCm39)	L846P	probably damaging	Het
Myrip	C	T	9: 120,246,207 (GRCm39)	L112F	probably damaging	Het
Nav1	A	G	1: 135,393,597 (GRCm39)	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,458,628 (GRCm39)	D327G	possibly damaging	Het
Notch1	C	T	2: 26,366,387 (GRCm39)	V776I	probably benign	Het
Obsl1	G	T	1: 75,466,161 (GRCm39)	D1522E	probably damaging	Het
Or52s6	T	A	7: 103,091,995 (GRCm39)	M112L	probably benign	Het
Or5b110-ps1	A	T	19: 13,259,517 (GRCm39)	F302I	unknown	Het
Or7e168	T	C	9: 19,719,944 (GRCm39)	M110T	possibly damaging	Het
Or9r3	T	C	10: 129,948,093 (GRCm39)	K189E	probably benign	Het
Pla2r1	T	C	2: 60,360,779 (GRCm39)	H203R	probably benign	Het
Plch2	C	A	4: 155,082,929 (GRCm39)	C573F	probably damaging	Het
Polr1a	G	A	6: 71,918,440 (GRCm39)	R666Q	probably benign	Het
Prepl	T	C	17: 85,388,668 (GRCm39)	N145S	probably benign	Het
Psen2	C	T	1: 180,066,521 (GRCm39)	V139M	probably benign	Het
Ptgdr	A	T	14: 45,096,649 (GRCm39)	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,582,065 (GRCm39)	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,269,747 (GRCm39)	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,811,382 (GRCm39)	M824K	probably benign	Het
Sel1l	T	C	12: 91,815,739 (GRCm39)	T23A	probably benign	Het
Sele	A	G	1: 163,881,437 (GRCm39)	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,381,822 (GRCm39)	N421D	probably damaging	Het
Slc35f3	T	G	8: 127,121,297 (GRCm39)	L386R	probably benign	Het
Stab2	G	A	10: 86,782,084 (GRCm39)	S699L	probably damaging	Het
Synrg	A	T	11: 83,900,207 (GRCm39)	L726F	probably damaging	Het
Syt3	G	A	7: 44,045,343 (GRCm39)	V528M	probably damaging	Het
Szt2	A	G	4: 118,248,446 (GRCm39)	I655T	probably damaging	Het
Tbr1	T	C	2: 61,642,600 (GRCm39)	S622P	probably damaging	Het
Tex36	C	T	7: 133,188,952 (GRCm39)	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,550,399 (GRCm39)	W13*	probably null	Het
Trdn	A	T	10: 33,313,732 (GRCm39)	E500V	probably null	Het
Ugt2b38	A	T	5: 87,559,754 (GRCm39)	N379K	probably damaging	Het
Unc13d	T	C	11: 115,964,876 (GRCm39)	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,462,919 (GRCm39)	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,794,471 (GRCm39)	I733V	probably benign	Het
Zfp870	T	A	17: 33,102,828 (GRCm39)	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,426,503 (GRCm39)	M179L	probably benign	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
R5646:Pde7a	UTSW	3	19,287,937 (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
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'- TGCGCTCGTATGATCTAACAG -3'
(R):5'- GCTAATATTTTGGCTGACACTGG -3'

Sequencing Primer
(F):5'- TGCGCTCGTATGATCTAACAGAAGAC -3'
(R):5'- AGTGGAACTGAAGAACATTAAAACTC -3'

Posted On

2019-06-26