Mutagenetix > Incidental Mutation

Incidental Mutation 'R1944:Pde6c'

216531

Institutional Source

Beutler Lab

Gene Symbol

Pde6c

Ensembl Gene

ENSMUSG00000024992

Gene Name

phosphodiesterase 6C, cGMP specific, cone, alpha prime

Synonyms

cpfl1

MMRRC Submission

039962-MU

Accession Numbers

Essential gene?

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

Stock #

R1944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38121220-38172391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38145967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 418 (D418E)

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: D418E

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

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: D418E

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: D418E

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

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: D418E

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,980,796 (GRCm39)	N593Y	probably damaging	Het
Adamts16	C	T	13: 70,940,005 (GRCm39)	S406N	possibly damaging	Het
Adgrg1	G	A	8: 95,733,928 (GRCm39)	V350I	probably damaging	Het
Adgrv1	A	T	13: 81,659,030 (GRCm39)	D2051E	probably damaging	Het
Adrb2	C	A	18: 62,312,484 (GRCm39)	V114L	probably damaging	Het
Ago3	A	G	4: 126,247,520 (GRCm39)	V599A	probably damaging	Het
AI837181	T	C	19: 5,476,257 (GRCm39)	V140A	probably damaging	Het
Ankrd16	T	A	2: 11,788,443 (GRCm39)		probably null	Het
Arnt2	A	G	7: 83,992,959 (GRCm39)	S194P	probably benign	Het
Art2b	T	C	7: 101,229,153 (GRCm39)	N249D	probably benign	Het
Atat1	A	G	17: 36,220,232 (GRCm39)	L60P	probably damaging	Het
Atp2b1	A	T	10: 98,858,793 (GRCm39)	I1159F	probably damaging	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bbs4	T	G	9: 59,237,698 (GRCm39)		probably null	Het
Bdp1	A	T	13: 100,210,889 (GRCm39)		probably null	Het
Best2	A	G	8: 85,737,390 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,583,227 (GRCm39)	I1516T	probably damaging	Het
Cadps2	T	C	6: 23,599,479 (GRCm39)	I276V	probably damaging	Het
Carmil3	T	C	14: 55,736,087 (GRCm39)	S610P	probably damaging	Het
Caskin1	A	G	17: 24,719,745 (GRCm39)	I375V	probably damaging	Het
Ccdc168	G	A	1: 44,101,009 (GRCm39)	P30S	probably damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Clec11a	G	T	7: 43,954,098 (GRCm39)	T285K	probably benign	Het
Clk3	G	T	9: 57,672,469 (GRCm39)	T111K	probably benign	Het
Col6a6	G	A	9: 105,586,583 (GRCm39)	R1813C	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Ctrb1	C	A	8: 112,416,151 (GRCm39)	W45L	probably damaging	Het
Cubn	T	A	2: 13,283,349 (GRCm39)	S3530C	probably benign	Het
Dio1	A	G	4: 107,163,977 (GRCm39)		probably null	Het
Dock5	A	T	14: 67,994,584 (GRCm39)	Y1825*	probably null	Het
Duox1	A	T	2: 122,177,001 (GRCm39)	Q1476L	probably damaging	Het
Dync2h1	A	T	9: 7,001,377 (GRCm39)	H3877Q	probably damaging	Het
Enkd1	A	G	8: 106,434,208 (GRCm39)	S85P	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
F11r	T	C	1: 171,289,459 (GRCm39)	Y261H	probably damaging	Het
Glp2r	A	T	11: 67,637,618 (GRCm39)	S138T	probably benign	Het
Gpt2	A	G	8: 86,244,625 (GRCm39)	Y306C	probably damaging	Het
Grid2	G	C	6: 63,886,045 (GRCm39)	R147P	probably damaging	Het
Gtdc1	A	G	2: 44,642,198 (GRCm39)	F128L	possibly damaging	Het
H2-T15	A	G	17: 36,368,897 (GRCm39)	F61S	probably damaging	Het
Hacd4	T	C	4: 88,341,303 (GRCm39)	T154A	possibly damaging	Het
Heatr6	G	T	11: 83,660,046 (GRCm39)	L530F	probably damaging	Het
Hoxd8	A	T	2: 74,537,056 (GRCm39)	D256V	probably damaging	Het
Ints6	T	C	14: 62,931,089 (GRCm39)	N865D	probably benign	Het
Itpkc	G	T	7: 26,927,084 (GRCm39)	P277T	possibly damaging	Het
Klc4	T	C	17: 46,947,553 (GRCm39)	N383S	probably damaging	Het
Klra6	T	C	6: 129,995,908 (GRCm39)	Y150C	possibly damaging	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Krt39	A	C	11: 99,410,649 (GRCm39)	D174E	probably damaging	Het
Krt82	G	A	15: 101,456,970 (GRCm39)	R137W	probably damaging	Het
Lgmn	A	T	12: 102,368,183 (GRCm39)	S193T	probably damaging	Het
Limch1	G	A	5: 67,156,442 (GRCm39)	R300H	probably damaging	Het
Lrpap1	T	A	5: 35,254,974 (GRCm39)	I221F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,264,459 (GRCm39)	D4883G	probably damaging	Het
Man2b2	A	G	5: 36,973,524 (GRCm39)	V485A	probably benign	Het
Map3k19	T	C	1: 127,750,859 (GRCm39)	T831A	probably benign	Het
Mdfic2	A	G	6: 98,225,151 (GRCm39)	I44T	probably benign	Het
Megf6	C	G	4: 154,340,523 (GRCm39)	D471E	possibly damaging	Het
Mettl8	A	T	2: 70,803,623 (GRCm39)	F268L	probably damaging	Het
Miip	T	C	4: 147,950,422 (GRCm39)	E58G	probably benign	Het
Mycbp2	T	A	14: 103,466,840 (GRCm39)	S1308C	probably damaging	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Nav3	T	C	10: 109,552,391 (GRCm39)	N1817S	probably damaging	Het
Ndel1	A	T	11: 68,720,746 (GRCm39)	H313Q	probably benign	Het
Neb	A	T	2: 52,118,862 (GRCm39)	H3931Q	probably benign	Het
Nfkb2	T	A	19: 46,296,491 (GRCm39)	V253E	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Nr2e1	T	C	10: 42,448,774 (GRCm39)	T155A	probably benign	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or2b2	A	T	13: 21,887,287 (GRCm39)	I39F	possibly damaging	Het
Pdap1	G	A	5: 145,069,726 (GRCm39)	T93I	probably benign	Het
Pdha1	T	A	X: 158,910,354 (GRCm39)	D255V	probably damaging	Het
Polr2h	T	A	16: 20,537,796 (GRCm39)	D64E	probably benign	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Rbm15	C	T	3: 107,238,868 (GRCm39)	R510H	probably damaging	Het
Rgs7	A	T	1: 174,980,769 (GRCm39)	M85K	possibly damaging	Het
Rpl27-ps3	T	A	18: 6,332,669 (GRCm39)	V13D	probably damaging	Het
Rtp2	T	A	16: 23,746,316 (GRCm39)	D105V	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Slc30a6	T	G	17: 74,715,858 (GRCm39)	V106G	probably damaging	Het
Slco1a4	T	C	6: 141,785,276 (GRCm39)	I105V	probably benign	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Syne2	T	C	12: 76,121,318 (GRCm39)	V5928A	probably damaging	Het
Tbr1	T	A	2: 61,642,600 (GRCm39)	S622T	probably damaging	Het
Tgm3	A	G	2: 129,871,889 (GRCm39)	N306D	probably damaging	Het
Tmem132d	A	G	5: 127,860,828 (GRCm39)	*1098Q	probably null	Het
Tmem140	T	C	6: 34,849,747 (GRCm39)	Y88H	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Vamp3	A	G	4: 151,140,617 (GRCm39)		probably null	Het
Vmn1r235	A	C	17: 21,481,785 (GRCm39)	T37P	probably damaging	Het
Vmn2r81	T	G	10: 79,129,571 (GRCm39)	L821V	probably damaging	Het
Vmn2r97	A	G	17: 19,160,500 (GRCm39)	D545G	probably benign	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Wtip	A	T	7: 33,818,363 (GRCm39)	M268K	probably benign	Het
Zfhx2	G	T	14: 55,312,189 (GRCm39)	F168L	probably benign	Het
Zscan22	G	A	7: 12,637,767 (GRCm39)	R53K	probably damaging	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
R1605:Pde6c	UTSW	19	38,129,940 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCAGCTAAGCAGTGGGTGG -3'
(R):5'- GGGCGAAGTCAGACTTTATACTTG -3'

Sequencing Primer
(F):5'- CTGAATGAAGAGTCCGTGAACTTCTG -3'
(R):5'- GAAGATGATGCAATATATAGCAACCC -3'

Posted On

2014-08-01