Mutagenetix > Incidental Mutation

Incidental Mutation 'R8260:Pde1c'

639990

Institutional Source

Beutler Lab

Gene Symbol

Pde1c

Ensembl Gene

ENSMUSG00000004347

Gene Name

phosphodiesterase 1C

Synonyms

MMRRC Submission

067685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R8260 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56046789-56629472 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56114404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 503 (Y503C)

Ref Sequence

ENSEMBL: ENSMUSP00000046601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044505] [ENSMUST00000114327] [ENSMUST00000164037] [ENSMUST00000164752] [ENSMUST00000166102] [ENSMUST00000166890] [ENSMUST00000168944] [ENSMUST00000170774] [ENSMUST00000203372]

AlphaFold

Q64338

Predicted Effect

probably benign
Transcript: ENSMUST00000044505
AA Change: Y503C

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

SMART Domains

Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: Y503C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	82	142	3.8e-34	PFAM
HDc	225	390	1.02e-5	SMART
Blast:HDc	402	681	1e-123	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114327
AA Change: Y503C

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

SMART Domains

Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: Y503C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	82	142	4.7e-31	PFAM
HDc	225	390	1.02e-5	SMART
Blast:HDc	402	650	1e-110	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164037
AA Change: Y494C

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

SMART Domains

Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: Y494C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	73	133	8e-32	PFAM
HDc	216	381	1.02e-5	SMART
Blast:HDc	393	618	1e-102	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164752
AA Change: Y503C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: Y503C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	82	142	3e-28	PFAM
HDc	225	390	5.7e-8	SMART
Blast:HDc	402	627	1e-101	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166102
AA Change: Y503C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: Y503C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	82	142	3e-28	PFAM
HDc	225	390	5.7e-8	SMART
Blast:HDc	402	627	1e-101	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166890
AA Change: Y475C

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

SMART Domains

Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: Y475C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	54	114	3.5e-31	PFAM
HDc	197	362	1.02e-5	SMART
Blast:HDc	374	599	1e-102	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168944
AA Change: Y503C

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

SMART Domains

Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: Y503C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	82	142	4.7e-31	PFAM
HDc	225	390	1.02e-5	SMART
Blast:HDc	402	650	1e-110	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000170774
AA Change: Y466C

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

SMART Domains

Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: Y466C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	45	105	3.6e-31	PFAM
HDc	188	353	1.02e-5	SMART
Blast:HDc	365	613	1e-110	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000203372
AA Change: Y563C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: Y563C

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	142	202	3.1e-31	PFAM
HDc	285	450	5.8e-8	SMART
Blast:HDc	462	741	1e-122	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
PHENOTYPE: Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	G	C	14: 64,223,633 (GRCm39)	L48V	probably benign	Het
Acbd3	T	C	1: 180,566,095 (GRCm39)	Y263H	probably damaging	Het
Acot4	C	A	12: 84,088,809 (GRCm39)	P219Q	possibly damaging	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Ahcyl	T	C	16: 45,974,786 (GRCm39)	E197G	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Arid1b	A	G	17: 5,382,788 (GRCm39)	T1292A	probably benign	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Bbs10	C	T	10: 111,136,104 (GRCm39)	Q406*	probably null	Het
Bcas3	T	A	11: 85,400,372 (GRCm39)	M447K	possibly damaging	Het
Bmal1	A	T	7: 112,884,258 (GRCm39)	I92F	probably damaging	Het
Cars1	T	C	7: 143,139,446 (GRCm39)	D214G	probably benign	Het
Ccdc88a	A	T	11: 29,443,934 (GRCm39)	I1410F	probably benign	Het
Cd55b	A	T	1: 130,316,415 (GRCm39)	L378H	probably damaging	Het
Cdh1	G	A	8: 107,330,979 (GRCm39)	E37K	probably benign	Het
Cep72	T	C	13: 74,206,465 (GRCm39)	Y119C	probably damaging	Het
Ctnnd2	A	G	15: 30,634,879 (GRCm39)	T176A	possibly damaging	Het
D630045J12Rik	T	A	6: 38,119,846 (GRCm39)		probably null	Het
Ddi1	A	T	9: 6,265,524 (GRCm39)	C282S	probably damaging	Het
Ddit4	T	C	10: 59,787,277 (GRCm39)	T20A	probably benign	Het
Dpp10	T	A	1: 123,614,024 (GRCm39)	T102S	probably benign	Het
Ep400	T	A	5: 110,903,478 (GRCm39)	K374*	probably null	Het
Epha3	A	G	16: 63,403,917 (GRCm39)	L728P	probably damaging	Het
Fbxw21	C	A	9: 108,975,614 (GRCm39)		probably null	Het
Frmpd1	A	G	4: 45,244,638 (GRCm39)	E109G	probably damaging	Het
Ggt1	C	T	10: 75,417,245 (GRCm39)	P332L	probably damaging	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Gm5431	A	T	11: 48,785,556 (GRCm39)	I273K	probably benign	Het
Gon4l	A	G	3: 88,799,937 (GRCm39)	N861D	probably damaging	Het
Grm5	T	C	7: 87,724,340 (GRCm39)		probably null	Het
Helt	T	C	8: 46,745,745 (GRCm39)	N84S	possibly damaging	Het
Hnrnpa0	G	T	13: 58,275,228 (GRCm39)	Y300*	probably null	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Irf2bp1	C	T	7: 18,740,079 (GRCm39)	A573V	possibly damaging	Het
Itgbl1	C	A	14: 124,065,246 (GRCm39)	D133E	probably benign	Het
Kctd15	A	G	7: 34,344,267 (GRCm39)	F128S	possibly damaging	Het
Klra17	T	A	6: 129,808,421 (GRCm39)	N271Y	probably damaging	Het
Kmt2c	T	A	5: 25,610,514 (GRCm39)	E197D	possibly damaging	Het
Larp1	C	A	11: 57,949,515 (GRCm39)	T1048K	probably benign	Het
Macf1	A	G	4: 123,365,863 (GRCm39)	V2966A	probably benign	Het
Magi3	A	G	3: 103,922,625 (GRCm39)	L1364P	probably benign	Het
Malrd1	T	C	2: 15,619,017 (GRCm39)	S294P		Het
Med13l	C	T	5: 118,886,794 (GRCm39)	T1565I	possibly damaging	Het
Mov10l1	A	G	15: 88,896,313 (GRCm39)	D719G	probably benign	Het
Mtcl3	T	A	10: 29,024,270 (GRCm39)	H395Q	possibly damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,264,800 (GRCm39)	E1654G	probably damaging	Het
Myo1c	C	T	11: 75,546,942 (GRCm39)		probably benign	Het
Myo9a	A	G	9: 59,817,961 (GRCm39)	T2343A	probably benign	Het
Or1j12	A	G	2: 36,342,897 (GRCm39)	Q100R	probably damaging	Het
Or2ag18	A	T	7: 106,405,234 (GRCm39)	V145E	possibly damaging	Het
Or2d2b	A	T	7: 106,706,062 (GRCm39)	M2K	probably benign	Het
Or4m1	T	C	14: 50,557,615 (GRCm39)	K226E	probably benign	Het
Or52m2	T	A	7: 102,263,432 (GRCm39)	I255F	possibly damaging	Het
Or52n5	T	A	7: 104,587,879 (GRCm39)	Y49N	probably damaging	Het
Or6c2	T	A	10: 129,362,957 (GRCm39)	I287N	possibly damaging	Het
Or8k53	T	A	2: 86,177,276 (GRCm39)	Y278F	possibly damaging	Het
Or9g3	A	T	2: 85,589,820 (GRCm39)	L300Q	probably damaging	Het
Osmr	A	T	15: 6,844,897 (GRCm39)	D957E	probably benign	Het
Pappa	T	A	4: 65,234,419 (GRCm39)	V1408E	probably damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pdcd6ip	A	T	9: 113,501,865 (GRCm39)	D464E	probably benign	Het
Potefam3d	A	T	8: 69,972,400 (GRCm39)	D116E	possibly damaging	Het
Prob1	T	A	18: 35,787,210 (GRCm39)	E348V	possibly damaging	Het
Rnls	A	G	19: 33,180,048 (GRCm39)	L134S	probably damaging	Het
Scrn3	T	C	2: 73,166,202 (GRCm39)	Y412H	probably damaging	Het
Serpina3g	T	C	12: 104,205,362 (GRCm39)	S34P	probably benign	Het
Sertad3	G	A	7: 27,175,784 (GRCm39)	A73T	probably benign	Het
Sez6l	C	T	5: 112,609,122 (GRCm39)	A576T	probably benign	Het
Sh3tc2	G	A	18: 62,146,137 (GRCm39)	R1172H	probably damaging	Het
Sirt3	A	G	7: 140,456,319 (GRCm39)	V110A		Het
Smpd3	A	T	8: 106,984,047 (GRCm39)	D557E	probably benign	Het
Sptssb	A	T	3: 69,728,305 (GRCm39)	M44K	probably damaging	Het
Tars2	A	G	3: 95,662,132 (GRCm39)	W7R	probably damaging	Het
Tbc1d9b	A	G	11: 50,055,013 (GRCm39)	D964G	probably benign	Het
Tiam2	A	T	17: 3,568,594 (GRCm39)	D1580V	possibly damaging	Het
Tmeff2	T	A	1: 50,977,478 (GRCm39)	V130D	probably damaging	Het
Top2a	T	A	11: 98,891,595 (GRCm39)	E1176V	probably null	Het
Trappc9	C	A	15: 72,813,758 (GRCm39)	E680*	probably null	Het
Trip10	A	G	17: 57,564,314 (GRCm39)	N355S	probably benign	Het
Ttn	T	C	2: 76,596,337 (GRCm39)	E20192G	probably damaging	Het
Vmn2r96	A	G	17: 18,804,243 (GRCm39)	M306V	probably benign	Het
Wdr90	A	T	17: 26,064,141 (GRCm39)	H1860Q	probably damaging	Het
Wrnip1	A	G	13: 32,989,339 (GRCm39)	I276V	possibly damaging	Het
Zfp608	T	C	18: 55,030,821 (GRCm39)	K1040E	possibly damaging	Het
Zfp808	T	A	13: 62,320,552 (GRCm39)	C594S	probably benign	Het

Other mutations in Pde1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Pde1c	APN	6	56,150,659 (GRCm39)	missense	probably damaging	1.00
IGL02316:Pde1c	APN	6	56,128,336 (GRCm39)	missense	possibly damaging	0.77
IGL02751:Pde1c	APN	6	56,158,673 (GRCm39)	missense	probably damaging	1.00
IGL02801:Pde1c	APN	6	56,150,651 (GRCm39)	missense	probably damaging	1.00
IGL02975:Pde1c	APN	6	56,135,921 (GRCm39)	missense	probably damaging	1.00
IGL03357:Pde1c	APN	6	56,157,078 (GRCm39)	missense	probably damaging	1.00
R0523:Pde1c	UTSW	6	56,151,926 (GRCm39)	missense	probably damaging	1.00
R0717:Pde1c	UTSW	6	56,099,997 (GRCm39)	missense	probably damaging	0.98
R0973:Pde1c	UTSW	6	56,338,800 (GRCm39)	missense	probably benign	0.00
R1344:Pde1c	UTSW	6	56,338,752 (GRCm39)	missense	probably benign	0.08
R1521:Pde1c	UTSW	6	56,150,592 (GRCm39)	missense	possibly damaging	0.91
R1818:Pde1c	UTSW	6	56,103,877 (GRCm39)	nonsense	probably null
R2004:Pde1c	UTSW	6	56,135,996 (GRCm39)	missense	probably damaging	1.00
R2026:Pde1c	UTSW	6	56,157,175 (GRCm39)	missense	probably damaging	1.00
R4380:Pde1c	UTSW	6	56,049,263 (GRCm39)	missense	probably null	0.02
R4729:Pde1c	UTSW	6	56,049,194 (GRCm39)	missense	probably damaging	1.00
R4847:Pde1c	UTSW	6	56,100,019 (GRCm39)	missense	possibly damaging	0.52
R4993:Pde1c	UTSW	6	56,127,609 (GRCm39)	missense	probably damaging	0.98
R5666:Pde1c	UTSW	6	56,103,842 (GRCm39)	critical splice donor site	probably null
R6005:Pde1c	UTSW	6	56,456,187 (GRCm39)	splice site	probably null
R6636:Pde1c	UTSW	6	56,157,087 (GRCm39)	missense	probably damaging	1.00
R6701:Pde1c	UTSW	6	56,158,685 (GRCm39)	missense	probably damaging	1.00
R6990:Pde1c	UTSW	6	56,419,020 (GRCm39)	missense	possibly damaging	0.92
R7607:Pde1c	UTSW	6	56,127,613 (GRCm39)	missense	probably damaging	1.00
R7622:Pde1c	UTSW	6	56,103,910 (GRCm39)	missense	probably damaging	1.00
R8416:Pde1c	UTSW	6	56,128,276 (GRCm39)	critical splice donor site	probably null
R8898:Pde1c	UTSW	6	56,114,371 (GRCm39)	missense	probably damaging	0.99
R8904:Pde1c	UTSW	6	56,156,128 (GRCm39)	missense	possibly damaging	0.47
R9280:Pde1c	UTSW	6	56,114,505 (GRCm39)	missense	probably benign	0.44
R9405:Pde1c	UTSW	6	56,049,199 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTGCCATGCTTAAAAGGCC -3'
(R):5'- TAGCTCAGCAAATCCCACTTAG -3'

Sequencing Primer
(F):5'- TGCCATGCTTAAAAGGCCCATAAATC -3'
(R):5'- AGCAAATCCCACTTAGCATTCTGTG -3'

Posted On

2020-07-28