Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Pde1c'

588362

Institutional Source

Beutler Lab

Gene Symbol

Pde1c

Ensembl Gene

ENSMUSG00000004347

Gene Name

phosphodiesterase 1C

Synonyms

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56069804-56569103 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56150628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 391 (T391A)

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 damaging
Transcript: ENSMUST00000044505
AA Change: T391A

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

SMART Domains

Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: T391A

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: T391A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: T391A

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: T382A

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

SMART Domains

Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: T382A

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: T391A

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

SMART Domains

Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: T391A

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: T391A

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

SMART Domains

Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: T391A

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: T363A

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

SMART Domains

Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: T363A

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: T391A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: T391A

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: T354A

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

SMART Domains

Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: T354A

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 damaging
Transcript: ENSMUST00000203372
AA Change: T451A

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

SMART Domains

Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: T451A

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989		probably null	Het
Abca7	T	C	10: 80,011,833	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011		probably null	Het
Atp7b	T	G	8: 22,011,506	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936	L156*	probably null	Het
Gk5	A	T	9: 96,153,210		probably null	Het
Gm3573	A	G	14: 42,189,750	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269		probably null	Het
Knl1	T	C	2: 119,095,133	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930	T303P	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783	E128G	probably benign	Het
Radil	A	T	5: 142,494,795	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738	P13S		Het
Slc18a2	C	A	19: 59,284,358	A364D	probably benign	Het
Snph	C	T	2: 151,594,586	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829	T40A	unknown	Het
Terb2	G	T	2: 122,186,475	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r48	C	A	6: 90,035,980	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742	D992E	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACCAGGAAACACTTTTCTTC -3'
(R):5'- TTTCCTCAACTCGGTGCTAG -3'

Sequencing Primer
(F):5'- GGAAACACTTTTCTTCATCTAAGCAG -3'
(R):5'- AACTCGGTGCTAGTTGAGTTTGAG -3'

Posted On

2019-10-24