Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00886:Pde1c'

27573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde1c

Ensembl Gene

ENSMUSG00000004347

Gene Name

phosphodiesterase 1C

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL00886

Quality Score

Status

Chromosome

Chromosomal Location

56069804-56569103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56173674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 287 (Y287H)

Ref Sequence

ENSEMBL: ENSMUSP00000145508 (fasta)

Gene Model

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

AlphaFold

Q64338

Predicted Effect

probably damaging
Transcript: ENSMUST00000044505
AA Change: Y227H

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

SMART Domains

Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: Y227H

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 damaging
Transcript: ENSMUST00000114327
AA Change: Y227H

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

SMART Domains

Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: Y227H

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 damaging
Transcript: ENSMUST00000164037
AA Change: Y218H

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

SMART Domains

Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: Y218H

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 damaging
Transcript: ENSMUST00000164752
AA Change: Y227H

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

SMART Domains

Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: Y227H

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 damaging
Transcript: ENSMUST00000166102
AA Change: Y227H

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

SMART Domains

Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: Y227H

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 damaging
Transcript: ENSMUST00000166890
AA Change: Y199H

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

SMART Domains

Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: Y199H

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 damaging
Transcript: ENSMUST00000168944
AA Change: Y227H

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

SMART Domains

Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: Y227H

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 damaging
Transcript: ENSMUST00000170774
AA Change: Y190H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: Y190H

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

noncoding transcript
Transcript: ENSMUST00000198921

Predicted Effect

probably damaging
Transcript: ENSMUST00000203372
AA Change: Y287H

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

SMART Domains

Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: Y287H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203967

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,163,275	R67H	possibly damaging	Het
Ak4	G	T	4: 101,447,189	E59*	probably null	Het
Ano10	T	C	9: 122,271,324	N116S	probably benign	Het
Arid1b	T	A	17: 5,126,979	H658Q	probably damaging	Het
Atf2	G	A	2: 73,845,503	T208I	possibly damaging	Het
Bco1	T	C	8: 117,130,637	W448R	probably damaging	Het
Cel	A	T	2: 28,559,385	C277S	probably damaging	Het
Chd5	T	A	4: 152,359,699	D296E	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Fmo9	T	C	1: 166,680,145		probably null	Het
Gdpgp1	T	G	7: 80,239,352	L377R	probably damaging	Het
Gm26938	T	A	5: 139,826,336	D3V	probably damaging	Het
Gpld1	T	A	13: 24,962,353	Y193*	probably null	Het
Gtf2h4	T	C	17: 35,669,982	H265R	probably damaging	Het
Hadh	G	T	3: 131,249,816	T83K	probably benign	Het
Hao1	T	C	2: 134,523,159	M183V	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ift88	T	C	14: 57,478,068	Y523H	probably damaging	Het
Il23r	G	T	6: 67,473,890	Q202K	possibly damaging	Het
Iyd	T	C	10: 3,540,444	D50A	probably benign	Het
Katnal2	A	T	18: 77,002,754	L248Q	probably damaging	Het
Krtap26-1	A	T	16: 88,647,379	V118E	possibly damaging	Het
Lzic	T	C	4: 149,493,296		probably null	Het
Mical2	T	A	7: 112,315,072	N316K	probably benign	Het
Ndufc2	T	A	7: 97,400,190	M1K	probably null	Het
Net1	A	G	13: 3,893,391		probably benign	Het
Olfr309	G	A	7: 86,307,051	L21F	probably damaging	Het
Pitpnm1	T	C	19: 4,110,665		probably null	Het
Pla2r1	T	A	2: 60,424,324	E1300V	probably damaging	Het
Polr3g	T	C	13: 81,694,677	Y73C	probably damaging	Het
Ryr1	T	A	7: 29,024,229	E4137V	probably damaging	Het
Scrib	T	C	15: 76,048,794	D1425G	possibly damaging	Het
Slc25a12	A	G	2: 71,344,032	Y23H	possibly damaging	Het
Spef2	C	A	15: 9,663,095	G867W	probably damaging	Het
Strn3	A	T	12: 51,610,150	Y698N	probably damaging	Het
Tldc1	T	C	8: 119,773,268		probably benign	Het
Ube3a	T	A	7: 59,284,737	F533I	probably damaging	Het

Other mutations in Pde1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02316:Pde1c	APN	6	56151351	missense	possibly damaging	0.77
IGL02751:Pde1c	APN	6	56181688	missense	probably damaging	1.00
IGL02801:Pde1c	APN	6	56173666	missense	probably damaging	1.00
IGL02975:Pde1c	APN	6	56158936	missense	probably damaging	1.00
IGL03357:Pde1c	APN	6	56180093	missense	probably damaging	1.00
R0523:Pde1c	UTSW	6	56174941	missense	probably damaging	1.00
R0717:Pde1c	UTSW	6	56123012	missense	probably damaging	0.98
R0973:Pde1c	UTSW	6	56361815	missense	probably benign	0.00
R1344:Pde1c	UTSW	6	56361767	missense	probably benign	0.08
R1521:Pde1c	UTSW	6	56173607	missense	possibly damaging	0.91
R1818:Pde1c	UTSW	6	56126892	nonsense	probably null
R2004:Pde1c	UTSW	6	56159011	missense	probably damaging	1.00
R2026:Pde1c	UTSW	6	56180190	missense	probably damaging	1.00
R4380:Pde1c	UTSW	6	56072278	missense	probably null	0.02
R4729:Pde1c	UTSW	6	56072209	missense	probably damaging	1.00
R4847:Pde1c	UTSW	6	56123034	missense	possibly damaging	0.52
R4993:Pde1c	UTSW	6	56150624	missense	probably damaging	0.98
R5666:Pde1c	UTSW	6	56126857	critical splice donor site	probably null
R6005:Pde1c	UTSW	6	56479202	splice site	probably null
R6636:Pde1c	UTSW	6	56180102	missense	probably damaging	1.00
R6701:Pde1c	UTSW	6	56181700	missense	probably damaging	1.00
R6990:Pde1c	UTSW	6	56442035	missense	possibly damaging	0.92
R7607:Pde1c	UTSW	6	56150628	missense	probably damaging	1.00
R7622:Pde1c	UTSW	6	56126925	missense	probably damaging	1.00
R8260:Pde1c	UTSW	6	56137419	missense	probably benign
R8416:Pde1c	UTSW	6	56151291	critical splice donor site	probably null
R8898:Pde1c	UTSW	6	56137386	missense	probably damaging	0.99
R8904:Pde1c	UTSW	6	56179143	missense	possibly damaging	0.47
R9280:Pde1c	UTSW	6	56137520	missense	probably benign	0.44
R9405:Pde1c	UTSW	6	56072214	nonsense	probably null

Posted On

2013-04-17