Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Pde1c'

204593

Institutional Source

Beutler Lab

Gene Symbol

Pde1c

Ensembl Gene

ENSMUSG00000004347

Gene Name

phosphodiesterase 1C

Synonyms

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

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

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56046789-56629472 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56103877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 651 (K651*)

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 null
Transcript: ENSMUST00000044505
AA Change: K591*

SMART Domains

Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: K591*

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 null
Transcript: ENSMUST00000114327
AA Change: K591*

SMART Domains

Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: K591*

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 null
Transcript: ENSMUST00000164037
AA Change: K582*

SMART Domains

Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: K582*

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 null
Transcript: ENSMUST00000164752
AA Change: K591*

SMART Domains

Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: K591*

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 null
Transcript: ENSMUST00000166102
AA Change: K591*

SMART Domains

Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: K591*

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 null
Transcript: ENSMUST00000166890
AA Change: K563*

SMART Domains

Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: K563*

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 null
Transcript: ENSMUST00000168944
AA Change: K591*

SMART Domains

Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: K591*

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 null
Transcript: ENSMUST00000170774
AA Change: K554*

SMART Domains

Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: K554*

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 null
Transcript: ENSMUST00000203372
AA Change: K651*

SMART Domains

Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: K651*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203462

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cebpz	A	G	17: 79,242,805 (GRCm39)	L283P	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnai4	A	G	4: 102,929,854 (GRCm39)	V56A	possibly damaging	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nup153	A	T	13: 46,835,113 (GRCm39)	N1397K	possibly damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Usp16	C	T	16: 87,276,020 (GRCm39)	R452*	probably null	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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
R8260:Pde1c	UTSW	6	56,114,404 (GRCm39)	missense	probably benign
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'- TGGTCACAGGATGGGATCATG -3'
(R):5'- GTGTACTGGTTCCCATGGAC -3'

Sequencing Primer
(F):5'- ACAGGATGGGATCATGACTGTATCTC -3'
(R):5'- ACTGGTTCCCATGGACATTAG -3'

Posted On

2014-06-23