Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Pde6c'

559143

Institutional Source

Beutler Lab

Gene Symbol

Pde6c

Ensembl Gene

ENSMUSG00000024992

Gene Name

phosphodiesterase 6C, cGMP specific, cone, alpha prime

Synonyms

cpfl1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38132781-38183958 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38133090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

Ref Sequence

ENSEMBL: ENSMUSP00000025956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025956] [ENSMUST00000112329]

AlphaFold

Q91ZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000025956
AA Change: S49P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: S49P

Domain	Start	End	E-Value	Type
GAF	75	234	6.27e-26	SMART
GAF	256	443	1.48e-22	SMART
Blast:HDc	490	543	1e-8	BLAST
HDc	559	737	7.57e-9	SMART
low complexity region	827	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112329
AA Change: S49P

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

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: S49P

Domain	Start	End	E-Value	Type
GAF	75	234	6.27e-26	SMART
GAF	256	443	1.48e-22	SMART
Blast:HDc	490	543	1e-8	BLAST
HDc	559	737	1.62e-8	SMART
low complexity region	802	811	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
PHENOTYPE: A spontaneous mutation in this gene results in abnormal cone photoreceptor function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc42bpg	A	G	19: 6,310,797	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550		probably null	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
P4htm	A	T	9: 108,581,860	M291K	possibly damaging	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	Het

Other mutations in Pde6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Pde6c	APN	19	38162876	splice site	probably benign
IGL01333:Pde6c	APN	19	38175695	missense	probably benign	0.05
IGL01390:Pde6c	APN	19	38161928	missense	probably benign	0.01
IGL02508:Pde6c	APN	19	38157500	missense	probably benign	0.13
IGL02542:Pde6c	APN	19	38178130	missense	probably damaging	1.00
IGL02546:Pde6c	APN	19	38140040	missense	probably benign	0.00
IGL02661:Pde6c	APN	19	38180800	missense	probably damaging	0.97
silverton	UTSW	19	38162845	missense	probably damaging	1.00
IGL03097:Pde6c	UTSW	19	38178271	missense	probably damaging	1.00
R0117:Pde6c	UTSW	19	38151531	missense	probably damaging	1.00
R0128:Pde6c	UTSW	19	38169365	splice site	probably benign
R0349:Pde6c	UTSW	19	38162349	missense	probably damaging	1.00
R0612:Pde6c	UTSW	19	38133246	missense	probably benign	0.03
R0692:Pde6c	UTSW	19	38180250	missense	probably damaging	0.99
R0785:Pde6c	UTSW	19	38133180	missense	probably benign
R1605:Pde6c	UTSW	19	38141492	missense	probably damaging	1.00
R1643:Pde6c	UTSW	19	38161958	missense	possibly damaging	0.56
R1694:Pde6c	UTSW	19	38180225	missense	probably damaging	1.00
R1781:Pde6c	UTSW	19	38151698	missense	possibly damaging	0.69
R1900:Pde6c	UTSW	19	38161940	missense	probably damaging	1.00
R1944:Pde6c	UTSW	19	38157519	missense	probably damaging	1.00
R1945:Pde6c	UTSW	19	38157519	missense	probably damaging	1.00
R2143:Pde6c	UTSW	19	38162329	missense	probably damaging	1.00
R2497:Pde6c	UTSW	19	38153694	missense	probably damaging	1.00
R3737:Pde6c	UTSW	19	38140224	missense	probably damaging	1.00
R4010:Pde6c	UTSW	19	38169436	missense	probably damaging	1.00
R4241:Pde6c	UTSW	19	38162845	missense	probably damaging	1.00
R4242:Pde6c	UTSW	19	38162845	missense	probably damaging	1.00
R4259:Pde6c	UTSW	19	38162845	missense	probably damaging	1.00
R4661:Pde6c	UTSW	19	38169439	missense	probably damaging	1.00
R4677:Pde6c	UTSW	19	38157385	missense	probably damaging	1.00
R4708:Pde6c	UTSW	19	38180893	missense	possibly damaging	0.92
R4889:Pde6c	UTSW	19	38133151	missense	probably benign	0.23
R4898:Pde6c	UTSW	19	38150624	missense	possibly damaging	0.81
R4941:Pde6c	UTSW	19	38151565	missense	probably damaging	1.00
R5448:Pde6c	UTSW	19	38133175	missense	probably damaging	1.00
R6174:Pde6c	UTSW	19	38140229	missense	possibly damaging	0.57
R6249:Pde6c	UTSW	19	38158560	critical splice donor site	probably null
R6270:Pde6c	UTSW	19	38158436	missense	probably damaging	1.00
R7428:Pde6c	UTSW	19	38157536	critical splice donor site	probably null
R7429:Pde6c	UTSW	19	38141439	missense	probably damaging	1.00
R7430:Pde6c	UTSW	19	38141439	missense	probably damaging	1.00
R7643:Pde6c	UTSW	19	38141421	missense	probably damaging	1.00
R7793:Pde6c	UTSW	19	38159753	missense	possibly damaging	0.94
R7811:Pde6c	UTSW	19	38140059	missense	possibly damaging	0.91
R8097:Pde6c	UTSW	19	38161966	nonsense	probably null
R9085:Pde6c	UTSW	19	38178121	missense	probably benign	0.00
R9565:Pde6c	UTSW	19	38158560	critical splice donor site	probably null
R9720:Pde6c	UTSW	19	38169439	missense	probably benign	0.13
R9786:Pde6c	UTSW	19	38151561	missense	possibly damaging	0.95
Z1176:Pde6c	UTSW	19	38132881	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGAGAAACCCTCCACTCTGG -3'
(R):5'- AAGTTGGGGTGACGTTCAGC -3'

Sequencing Primer
(F):5'- ACTCTGGGTAGCAGCAGCAAC -3'
(R):5'- TGACGTTCAGCAGCCTG -3'

Posted On

2019-06-26