Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Pde1c'

360193

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 #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

56069804-56569103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56173666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 289 (N289K)

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: N229K

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

SMART Domains

Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: N229K

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: N229K

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

SMART Domains

Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: N229K

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: N220K

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

SMART Domains

Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: N220K

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: N229K

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

SMART Domains

Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: N229K

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: N229K

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

SMART Domains

Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: N229K

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: N201K

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

SMART Domains

Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: N201K

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: N229K

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

SMART Domains

Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: N229K

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: N192K

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

SMART Domains

Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: N192K

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: N289K

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

SMART Domains

Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: N289K

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,328,995	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414		probably null	Het
Csmd2	T	C	4: 128,552,075		probably null	Het
Dcp2	G	T	18: 44,417,711	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033	C662S	probably benign	Het
Dhx29	G	A	13: 112,964,646	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,597,813	P37L	probably benign	Het
Dqx1	A	G	6: 83,060,495		probably null	Het
Dzip1	T	A	14: 118,885,655	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003	S463P	probably damaging	Het
Eml5	A	G	12: 98,817,845	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,082,645	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532		probably null	Het
Lamc2	T	A	1: 153,136,783	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346	N254S	possibly damaging	Het
Med13l	T	C	5: 118,745,113	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Pfas	G	A	11: 68,988,277		probably benign	Het
Pms2	A	T	5: 143,925,835	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146		probably null	Het
Syncrip	A	T	9: 88,479,809	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819		probably null	Het

Other mutations in Pde1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Pde1c	APN	6	56173674	missense	probably damaging	1.00
IGL02316:Pde1c	APN	6	56151351	missense	possibly damaging	0.77
IGL02751:Pde1c	APN	6	56181688	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

2015-12-18