Mutagenetix > Incidental Mutation

Incidental Mutation 'R9565:Pde6c'

721555

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: 0.137) question?

Stock #

R9565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38121220-38172391 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 38147008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025956 (fasta)

Gene Model

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

AlphaFold

Q91ZQ1

Predicted Effect

probably null
Transcript: ENSMUST00000025956

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992

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 null
Transcript: ENSMUST00000025956

SMART Domains

Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992

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

SMART Domains

Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992

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: 99.9%
10x: 99.6%
20x: 98.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,773,635 (GRCm39)	R58Q	probably null	Het
Actl11	A	T	9: 107,808,121 (GRCm39)	T815S	possibly damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Acvr1	T	C	2: 58,338,385 (GRCm39)	K446E	probably damaging	Het
Adam39	T	C	8: 41,277,755 (GRCm39)	Y49H	probably benign	Het
Adcy7	TGG	TG	8: 89,053,053 (GRCm39)		probably null	Het
Amn1	C	T	6: 149,090,103 (GRCm39)		probably benign	Het
Ankdd1a	C	T	9: 65,411,452 (GRCm39)	A352T	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,909 (GRCm39)	M303T	probably benign	Het
Arl4c	A	G	1: 88,629,134 (GRCm39)	C85R	probably damaging	Het
Asgr2	T	A	11: 69,996,310 (GRCm39)		probably null	Het
Bdkrb1	G	A	12: 105,571,078 (GRCm39)	V215I	probably benign	Het
Btn2a2	C	A	13: 23,662,848 (GRCm39)	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,813,189 (GRCm39)	F273I	probably benign	Het
C7	T	A	15: 5,086,579 (GRCm39)		probably null	Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,339,800 (GRCm39)	T782A	probably damaging	Het
Ccdc187	T	C	2: 26,183,698 (GRCm39)	S101G	possibly damaging	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpg	T	G	19: 6,370,696 (GRCm39)	L1263R	probably damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Cdk12	A	G	11: 98,140,628 (GRCm39)	N1290D	unknown	Het
Ces1g	A	G	8: 94,061,792 (GRCm39)	V38A	probably benign	Het
Cntnap4	A	C	8: 113,582,982 (GRCm39)	Y1020S	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Cyp4f37	A	G	17: 32,844,205 (GRCm39)	D103G	possibly damaging	Het
Dlgap1	T	G	17: 70,964,458 (GRCm39)	N400K	probably benign	Het
Dnaaf9	G	A	2: 130,648,711 (GRCm39)	T257M	unknown	Het
Dnah1	C	A	14: 30,986,394 (GRCm39)	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,597,281 (GRCm39)	R3547S	possibly damaging	Het
Dnah3	A	G	7: 119,610,114 (GRCm39)	V1774A	probably benign	Het
Drc7	A	G	8: 95,801,866 (GRCm39)	E709G	probably damaging	Het
Dsc1	T	A	18: 20,240,791 (GRCm39)	D178V	probably damaging	Het
Duox1	T	C	2: 122,151,203 (GRCm39)	Y293H	probably damaging	Het
Elp1	G	T	4: 56,772,521 (GRCm39)	P867T	probably benign	Het
Epas1	T	A	17: 87,112,667 (GRCm39)	D88E	probably damaging	Het
Epdr1	A	G	13: 19,778,821 (GRCm39)	F92L	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Etv6	A	G	6: 134,225,672 (GRCm39)	N212S	probably benign	Het
Fam186b	A	T	15: 99,176,685 (GRCm39)	L735Q	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fan1	A	G	7: 63,999,240 (GRCm39)	L874P	possibly damaging	Het
Fancm	A	G	12: 65,168,494 (GRCm39)	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,734,722 (GRCm39)	N183K	probably damaging	Het
Fbn2	T	C	18: 58,228,298 (GRCm39)	H746R	probably benign	Het
Fbxw17	T	C	13: 50,579,605 (GRCm39)	W141R	probably damaging	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Gbe1	A	T	16: 70,198,664 (GRCm39)	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,293,180 (GRCm39)	Y369F	probably damaging	Het
Gdf9	T	A	11: 53,327,511 (GRCm39)	S156T	probably damaging	Het
Gm14295	T	C	2: 176,499,162 (GRCm39)	V4A	probably benign	Het
Gm8369	A	C	19: 11,489,015 (GRCm39)	T101P	probably benign	Het
Herc3	A	G	6: 58,835,999 (GRCm39)	N280S	probably null	Het
Hipk2	T	A	6: 38,724,390 (GRCm39)	R447W	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,136,996 (GRCm39)		probably null	Het
Ik	C	A	18: 36,886,959 (GRCm39)	D397E	probably benign	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Kif21b	A	T	1: 136,077,090 (GRCm39)	I371F	probably damaging	Het
Klrc1	A	G	6: 129,655,746 (GRCm39)	F43S	probably damaging	Het
Krt8	A	G	15: 101,912,460 (GRCm39)	V72A	probably benign	Het
Krtap6-2	A	G	16: 89,216,722 (GRCm39)	S82P	unknown	Het
Lrrc15	G	A	16: 30,093,016 (GRCm39)	L108F	probably damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Mark3	A	G	12: 111,570,960 (GRCm39)	I87V	probably damaging	Het
Mki67	GTT	GTTT	7: 135,309,233 (GRCm39)		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Msantd5f4	G	T	4: 73,557,190 (GRCm39)	V8F	probably damaging	Het
Myh3	C	T	11: 66,983,187 (GRCm39)	R905*	probably null	Het
Myh8	T	C	11: 67,177,215 (GRCm39)	V427A	probably benign	Het
Myocd	T	C	11: 65,078,209 (GRCm39)	K529E	probably damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Or1l4	G	T	2: 37,091,575 (GRCm39)	M107I	probably benign	Het
Or2w25	T	G	11: 59,504,339 (GRCm39)	I183S	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Pabpc4	T	C	4: 123,180,653 (GRCm39)	I125T	probably damaging	Het
Parp14	A	G	16: 35,677,775 (GRCm39)	I731T	probably benign	Het
Pias3	T	A	3: 96,610,867 (GRCm39)	C391S	possibly damaging	Het
Pknox2	A	T	9: 36,835,067 (GRCm39)	M134K	probably damaging	Het
Pot1b	A	G	17: 55,969,465 (GRCm39)	S568P	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,466 (GRCm39)	T483S	probably benign	Het
Rag1	A	T	2: 101,473,327 (GRCm39)	V605E	probably damaging	Het
Relch	T	C	1: 105,591,876 (GRCm39)	V15A	probably damaging	Het
Ros1	T	C	10: 51,943,170 (GRCm39)	D2048G	probably damaging	Het
Rp2	A	G	X: 20,243,781 (GRCm39)	D252G	probably benign	Het
Rpgrip1l	A	C	8: 92,031,516 (GRCm39)	H120Q	probably benign	Het
Rpl24	T	A	16: 55,790,509 (GRCm39)	S122T	probably benign	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Sema6a	A	T	18: 47,382,594 (GRCm39)	L651Q	probably null	Het
Serpinb6a	T	A	13: 34,102,400 (GRCm39)	K275I	probably damaging	Het
Skic2	C	T	17: 35,063,758 (GRCm39)	A562T	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc2a4	A	G	11: 69,837,173 (GRCm39)	F88L	probably damaging	Het
Slc8b1	A	G	5: 120,665,865 (GRCm39)	T399A	probably benign	Het
Slfn5	A	T	11: 82,847,699 (GRCm39)	M195L	possibly damaging	Het
Snx17	C	A	5: 31,355,088 (GRCm39)	Q368K	probably damaging	Het
Tasor	T	C	14: 27,201,766 (GRCm39)		probably null	Het
Tbcb	A	T	7: 29,930,549 (GRCm39)		probably null	Het
Telo2	A	G	17: 25,334,199 (GRCm39)	I16T	probably benign	Het
Timm50	A	G	7: 28,007,069 (GRCm39)	F202S	possibly damaging	Het
Tle2	A	G	10: 81,417,567 (GRCm39)	D244G	probably benign	Het
Tlr4	G	A	4: 66,759,522 (GRCm39)	V772I	possibly damaging	Het
Tmem214	G	A	5: 31,027,043 (GRCm39)	W11*	probably null	Het
Top2b	A	C	14: 16,365,718 (GRCm38)	T14P	probably benign	Het
Trim44	T	C	2: 102,187,827 (GRCm39)	T309A	probably benign	Het
Tuba8	A	G	6: 121,200,063 (GRCm39)	N249S	probably benign	Het
Tubb4a	A	G	17: 57,388,027 (GRCm39)	V333A	probably benign	Het
Ugdh	C	A	5: 65,575,876 (GRCm39)	D328Y	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,426 (GRCm39)	L137P	probably damaging	Het
Vmn1r208	A	G	13: 22,956,789 (GRCm39)	V236A	probably damaging	Het
Vmn2r29	A	T	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Vmn2r52	A	C	7: 9,893,476 (GRCm39)	D554E	probably benign	Het
Wdr36	C	T	18: 32,994,168 (GRCm39)	Q669*	probably null	Het
Wiz	G	T	17: 32,575,939 (GRCm39)	D812E	probably benign	Het
Zfp777	A	T	6: 48,021,580 (GRCm39)	V14D	possibly 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
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
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'- GGATCTGAGTCACTGTTCTTCC -3'
(R):5'- CCAGATACATTGTGTGCTCCTAC -3'

Sequencing Primer
(F):5'- TCCACTTCAGACTTTAACCCAG -3'
(R):5'- CCAGGAGCTGTTTTTCACAAAC -3'

Posted On

2022-08-09