Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Pde6c'

176446

Institutional Source

Beutler Lab

Gene Symbol

Pde6c

Ensembl Gene

ENSMUSG00000024992

Gene Name

phosphodiesterase 6C, cGMP specific, cone, alpha prime

Synonyms

cpfl1

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38121220-38172391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38129940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 283 (D283E)

Ref Sequence

ENSEMBL: ENSMUSP00000107948 (fasta)

Gene Model

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

AlphaFold

Q91ZQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025956
AA Change: D283E

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

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: D283E

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 damaging
Transcript: ENSMUST00000112329
AA Change: D283E

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

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: D283E

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

Meta Mutation Damage Score

0.1638

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Pde6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Pde6c	APN	19	38,151,324 (GRCm39)	splice site	probably benign
IGL01333:Pde6c	APN	19	38,164,143 (GRCm39)	missense	probably benign	0.05
IGL01390:Pde6c	APN	19	38,150,376 (GRCm39)	missense	probably benign	0.01
IGL02508:Pde6c	APN	19	38,145,948 (GRCm39)	missense	probably benign	0.13
IGL02542:Pde6c	APN	19	38,166,578 (GRCm39)	missense	probably damaging	1.00
IGL02546:Pde6c	APN	19	38,128,488 (GRCm39)	missense	probably benign	0.00
IGL02661:Pde6c	APN	19	38,169,248 (GRCm39)	missense	probably damaging	0.97
silverton	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
IGL03097:Pde6c	UTSW	19	38,166,719 (GRCm39)	missense	probably damaging	1.00
R0117:Pde6c	UTSW	19	38,139,979 (GRCm39)	missense	probably damaging	1.00
R0128:Pde6c	UTSW	19	38,157,813 (GRCm39)	splice site	probably benign
R0349:Pde6c	UTSW	19	38,150,797 (GRCm39)	missense	probably damaging	1.00
R0612:Pde6c	UTSW	19	38,121,694 (GRCm39)	missense	probably benign	0.03
R0692:Pde6c	UTSW	19	38,168,698 (GRCm39)	missense	probably damaging	0.99
R0785:Pde6c	UTSW	19	38,121,628 (GRCm39)	missense	probably benign
R1643:Pde6c	UTSW	19	38,150,406 (GRCm39)	missense	possibly damaging	0.56
R1694:Pde6c	UTSW	19	38,168,673 (GRCm39)	missense	probably damaging	1.00
R1781:Pde6c	UTSW	19	38,140,146 (GRCm39)	missense	possibly damaging	0.69
R1900:Pde6c	UTSW	19	38,150,388 (GRCm39)	missense	probably damaging	1.00
R1944:Pde6c	UTSW	19	38,145,967 (GRCm39)	missense	probably damaging	1.00
R1945:Pde6c	UTSW	19	38,145,967 (GRCm39)	missense	probably damaging	1.00
R2143:Pde6c	UTSW	19	38,150,777 (GRCm39)	missense	probably damaging	1.00
R2497:Pde6c	UTSW	19	38,142,142 (GRCm39)	missense	probably damaging	1.00
R3737:Pde6c	UTSW	19	38,128,672 (GRCm39)	missense	probably damaging	1.00
R4010:Pde6c	UTSW	19	38,157,884 (GRCm39)	missense	probably damaging	1.00
R4241:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4242:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4259:Pde6c	UTSW	19	38,151,293 (GRCm39)	missense	probably damaging	1.00
R4661:Pde6c	UTSW	19	38,157,887 (GRCm39)	missense	probably damaging	1.00
R4677:Pde6c	UTSW	19	38,145,833 (GRCm39)	missense	probably damaging	1.00
R4708:Pde6c	UTSW	19	38,169,341 (GRCm39)	missense	possibly damaging	0.92
R4889:Pde6c	UTSW	19	38,121,599 (GRCm39)	missense	probably benign	0.23
R4898:Pde6c	UTSW	19	38,139,072 (GRCm39)	missense	possibly damaging	0.81
R4941:Pde6c	UTSW	19	38,140,013 (GRCm39)	missense	probably damaging	1.00
R5448:Pde6c	UTSW	19	38,121,623 (GRCm39)	missense	probably damaging	1.00
R6174:Pde6c	UTSW	19	38,128,677 (GRCm39)	missense	possibly damaging	0.57
R6249:Pde6c	UTSW	19	38,147,008 (GRCm39)	critical splice donor site	probably null
R6270:Pde6c	UTSW	19	38,146,884 (GRCm39)	missense	probably damaging	1.00
R7183:Pde6c	UTSW	19	38,121,538 (GRCm39)	missense	probably benign	0.00
R7428:Pde6c	UTSW	19	38,145,984 (GRCm39)	critical splice donor site	probably null
R7429:Pde6c	UTSW	19	38,129,887 (GRCm39)	missense	probably damaging	1.00
R7430:Pde6c	UTSW	19	38,129,887 (GRCm39)	missense	probably damaging	1.00
R7643:Pde6c	UTSW	19	38,129,869 (GRCm39)	missense	probably damaging	1.00
R7793:Pde6c	UTSW	19	38,148,201 (GRCm39)	missense	possibly damaging	0.94
R7811:Pde6c	UTSW	19	38,128,507 (GRCm39)	missense	possibly damaging	0.91
R8097:Pde6c	UTSW	19	38,150,414 (GRCm39)	nonsense	probably null
R9085:Pde6c	UTSW	19	38,166,569 (GRCm39)	missense	probably benign	0.00
R9565:Pde6c	UTSW	19	38,147,008 (GRCm39)	critical splice donor site	probably null
R9720:Pde6c	UTSW	19	38,157,887 (GRCm39)	missense	probably benign	0.13
R9786:Pde6c	UTSW	19	38,140,009 (GRCm39)	missense	possibly damaging	0.95
Z1176:Pde6c	UTSW	19	38,121,329 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTGGGAAAGACCTACCCATCAC -3'
(R):5'- CCCATTAGCTCTGAGCCTTCACAG -3'

Sequencing Primer
(F):5'- cttcttcttcttcttcttctcttcc -3'
(R):5'- TCTGAGCCTTCACAGAGCTG -3'

Posted On

2014-04-24