Mutagenetix > Incidental Mutation

Incidental Mutation 'R4953:Pde6a'

381441

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

MMRRC Submission

042550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61353387-61422995 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61364434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 163 (C163*)

Ref Sequence

ENSEMBL: ENSMUSP00000025468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025468]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000025468
AA Change: C163*

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: C163*

Domain	Start	End	E-Value	Type
GAF	73	232	1.36e-21	SMART
GAF	254	441	3.21e-23	SMART
low complexity region	478	495	N/A	INTRINSIC
Blast:HDc	496	540	3e-11	BLAST
HDc	556	734	6.95e-8	SMART
Blast:HDc	759	786	1e-8	BLAST
low complexity region	817	837	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have retinal degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgre1	G	A	17: 57,748,321 (GRCm39)	G507E	probably damaging	Het
Agpat5	G	A	8: 18,918,971 (GRCm39)	V118I	probably benign	Het
Aif1	T	C	17: 35,390,074 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,488,608 (GRCm39)		probably null	Het
Akt2	T	A	7: 27,337,597 (GRCm39)		probably null	Het
Ankrd35	T	A	3: 96,590,989 (GRCm39)	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,385,326 (GRCm39)	T520A	possibly damaging	Het
Arhgef28	T	A	13: 98,066,062 (GRCm39)	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,399,472 (GRCm39)	D1079G	probably benign	Het
Atp1a2	A	T	1: 172,119,009 (GRCm39)		probably benign	Het
Cage1	C	A	13: 38,207,406 (GRCm39)	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,576,582 (GRCm39)	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,784,247 (GRCm39)	V85A	probably damaging	Het
Cd38	A	C	5: 44,064,887 (GRCm39)	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,009,088 (GRCm39)	K530R	probably benign	Het
Ceacam20	T	A	7: 19,705,651 (GRCm39)	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,502,379 (GRCm39)	A379T	probably benign	Het
Col4a2	A	T	8: 11,479,505 (GRCm39)	E796V	probably benign	Het
Copa	A	G	1: 171,910,453 (GRCm39)		probably benign	Het
Cpa5	A	G	6: 30,631,363 (GRCm39)	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,249,931 (GRCm39)	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,042,822 (GRCm39)	L290*	probably null	Het
Ddx42	A	G	11: 106,133,766 (GRCm39)	T581A	probably damaging	Het
Deaf1	C	T	7: 140,902,381 (GRCm39)	G221S	probably damaging	Het
Dnah6	A	G	6: 73,165,366 (GRCm39)	S580P	probably benign	Het
Dock1	A	G	7: 134,754,017 (GRCm39)	E1598G	probably benign	Het
Drg2	T	C	11: 60,350,262 (GRCm39)		probably benign	Het
Eif3f	C	A	7: 108,533,847 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Gas7	C	T	11: 67,550,876 (GRCm39)	T126M	possibly damaging	Het
Gckr	T	G	5: 31,465,608 (GRCm39)	F408C	probably damaging	Het
Gm17472	A	G	6: 42,958,004 (GRCm39)	D91G	probably damaging	Het
Gm5117	G	A	8: 32,228,608 (GRCm39)		noncoding transcript	Het
Gsto1	T	A	19: 47,843,759 (GRCm39)	I47N	probably damaging	Het
Hck	C	T	2: 152,976,597 (GRCm39)	P244S	probably damaging	Het
Hif3a	T	C	7: 16,784,490 (GRCm39)	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,752,111 (GRCm39)		probably benign	Het
Impa1	G	A	3: 10,380,340 (GRCm39)	S247F	probably damaging	Het
Ints14	G	C	9: 64,889,340 (GRCm39)	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,373,524 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,722,377 (GRCm39)	K436R	probably damaging	Het
Lama3	G	A	18: 12,581,362 (GRCm39)	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,599,133 (GRCm39)		probably benign	Het
Lrrc8d	C	T	5: 105,961,234 (GRCm39)	T548M	probably damaging	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,341,431 (GRCm39)	P214L	probably benign	Het
Mast1	G	A	8: 85,645,357 (GRCm39)	T696I	probably damaging	Het
Muc15	C	T	2: 110,561,617 (GRCm39)	P18S	probably damaging	Het
Mybl2	T	C	2: 162,922,716 (GRCm39)	S205P	probably damaging	Het
Mylk	T	C	16: 34,809,331 (GRCm39)	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nfib	A	G	4: 82,271,808 (GRCm39)	M252T	probably benign	Het
Nid2	C	A	14: 19,828,146 (GRCm39)	Y261*	probably null	Het
Nmd3	C	T	3: 69,638,970 (GRCm39)	R187C	possibly damaging	Het
Nomo1	G	T	7: 45,700,155 (GRCm39)		probably benign	Het
Npy4r	A	G	14: 33,868,437 (GRCm39)	F284L	probably damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5b121	T	A	19: 13,507,178 (GRCm39)	L91Q	probably null	Het
Or5g27	T	A	2: 85,410,069 (GRCm39)	L162*	probably null	Het
Pcdhb12	T	A	18: 37,569,209 (GRCm39)	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,116,404 (GRCm39)	T1518I	probably benign	Het
Pign	A	T	1: 105,572,227 (GRCm39)	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,367,799 (GRCm39)	H76L	probably damaging	Het
Plcz1	T	C	6: 139,974,277 (GRCm39)	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,821,438 (GRCm39)	H350L	possibly damaging	Het
Rchy1	A	T	5: 92,110,487 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,793,946 (GRCm39)	T270A	possibly damaging	Het
Rprml	A	G	11: 103,540,644 (GRCm39)	E13G	probably benign	Het
Secisbp2	T	A	13: 51,836,063 (GRCm39)	I719N	probably damaging	Het
Sergef	C	T	7: 46,283,259 (GRCm39)	R148H	probably benign	Het
Serpina6	T	A	12: 103,618,221 (GRCm39)		probably null	Het
Sirpb1b	C	A	3: 15,613,887 (GRCm39)	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,455,977 (GRCm39)	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Smarce1	A	G	11: 99,105,977 (GRCm39)	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,864,097 (GRCm39)	E415V	probably damaging	Het
Speg	G	A	1: 75,400,508 (GRCm39)	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,543,417 (GRCm39)	V338G	probably damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tex14	G	T	11: 87,427,727 (GRCm39)		probably null	Het
Trim36	T	A	18: 46,329,245 (GRCm39)	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,444,368 (GRCm39)	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,620,289 (GRCm39)	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,539,471 (GRCm39)	S421P	probably benign	Het
Unc5a	A	T	13: 55,147,683 (GRCm39)	M498L	probably benign	Het
Vipr2	A	G	12: 116,107,876 (GRCm39)	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,628,515 (GRCm39)	H235Q	probably damaging	Het
Vps35	T	A	8: 86,008,475 (GRCm39)	I267F	probably damaging	Het
Wdr26	G	A	1: 181,025,216 (GRCm39)	R279W	probably damaging	Het
Xpo6	C	A	7: 125,768,443 (GRCm39)	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp105	T	A	9: 122,758,880 (GRCm39)	S184T	probably benign	Het
Zfp574	G	A	7: 24,780,388 (GRCm39)	R470H	probably damaging	Het
Zswim9	T	A	7: 13,003,484 (GRCm39)	H122L	probably damaging	Het

Other mutations in Pde6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Pde6a	APN	18	61,390,339 (GRCm39)	missense	probably damaging	1.00
IGL00896:Pde6a	APN	18	61,353,864 (GRCm39)	missense	possibly damaging	0.94
IGL01595:Pde6a	APN	18	61,414,599 (GRCm39)	missense	probably damaging	0.98
IGL02971:Pde6a	APN	18	61,397,326 (GRCm39)	missense	probably damaging	1.00
caffeinated	UTSW	18	61,353,678 (GRCm39)	start codon destroyed	probably null	0.95
R0219:Pde6a	UTSW	18	61,419,006 (GRCm39)	missense	possibly damaging	0.57
R0968:Pde6a	UTSW	18	61,386,809 (GRCm39)	missense	probably damaging	0.99
R1304:Pde6a	UTSW	18	61,391,364 (GRCm39)	missense	probably damaging	0.99
R1498:Pde6a	UTSW	18	61,365,932 (GRCm39)	missense	possibly damaging	0.73
R1542:Pde6a	UTSW	18	61,390,116 (GRCm39)	missense	possibly damaging	0.93
R1734:Pde6a	UTSW	18	61,419,036 (GRCm39)	missense	probably damaging	1.00
R1795:Pde6a	UTSW	18	61,390,283 (GRCm39)	missense	probably damaging	1.00
R2173:Pde6a	UTSW	18	61,387,453 (GRCm39)	missense	probably damaging	1.00
R2280:Pde6a	UTSW	18	61,395,505 (GRCm39)	missense	probably damaging	1.00
R2281:Pde6a	UTSW	18	61,395,505 (GRCm39)	missense	probably damaging	1.00
R3617:Pde6a	UTSW	18	61,364,575 (GRCm39)	splice site	probably benign
R4620:Pde6a	UTSW	18	61,395,563 (GRCm39)	missense	probably damaging	1.00
R4727:Pde6a	UTSW	18	61,364,561 (GRCm39)	missense	probably benign	0.02
R4863:Pde6a	UTSW	18	61,378,663 (GRCm39)	missense	probably damaging	1.00
R4904:Pde6a	UTSW	18	61,398,105 (GRCm39)	missense	probably benign	0.08
R4945:Pde6a	UTSW	18	61,367,790 (GRCm39)	missense	probably damaging	1.00
R5323:Pde6a	UTSW	18	61,365,983 (GRCm39)	missense	possibly damaging	0.81
R5496:Pde6a	UTSW	18	61,386,736 (GRCm39)	critical splice acceptor site	probably null
R5540:Pde6a	UTSW	18	61,364,438 (GRCm39)	missense	probably damaging	0.99
R6180:Pde6a	UTSW	18	61,417,163 (GRCm39)	splice site	probably null
R6366:Pde6a	UTSW	18	61,398,142 (GRCm39)	splice site	probably null
R6743:Pde6a	UTSW	18	61,397,057 (GRCm39)	missense	possibly damaging	0.48
R7161:Pde6a	UTSW	18	61,414,596 (GRCm39)	missense	probably benign	0.05
R7186:Pde6a	UTSW	18	61,353,678 (GRCm39)	start codon destroyed	probably null	0.95
R7197:Pde6a	UTSW	18	61,391,295 (GRCm39)	missense	probably damaging	0.96
R7296:Pde6a	UTSW	18	61,391,364 (GRCm39)	missense	probably damaging	0.99
R7487:Pde6a	UTSW	18	61,383,031 (GRCm39)	missense	probably damaging	1.00
R7734:Pde6a	UTSW	18	61,365,938 (GRCm39)	missense	probably benign	0.10
R7818:Pde6a	UTSW	18	61,414,580 (GRCm39)	splice site	probably null
R8104:Pde6a	UTSW	18	61,364,566 (GRCm39)	missense	probably damaging	0.99
R8135:Pde6a	UTSW	18	61,418,996 (GRCm39)	missense	probably damaging	0.98
R8213:Pde6a	UTSW	18	61,353,768 (GRCm39)	missense	possibly damaging	0.94
R8266:Pde6a	UTSW	18	61,391,284 (GRCm39)	missense	probably damaging	1.00
R8429:Pde6a	UTSW	18	61,365,916 (GRCm39)	missense	probably damaging	0.98
R8472:Pde6a	UTSW	18	61,354,018 (GRCm39)	missense	probably damaging	1.00
R8805:Pde6a	UTSW	18	61,390,104 (GRCm39)	missense	probably benign	0.13
R8882:Pde6a	UTSW	18	61,378,619 (GRCm39)	missense
R9002:Pde6a	UTSW	18	61,419,060 (GRCm39)	missense	probably damaging	1.00
R9015:Pde6a	UTSW	18	61,397,047 (GRCm39)	missense	probably damaging	0.99
R9338:Pde6a	UTSW	18	61,354,109 (GRCm39)	missense	probably damaging	1.00
R9353:Pde6a	UTSW	18	61,390,382 (GRCm39)	missense	probably damaging	1.00
R9446:Pde6a	UTSW	18	61,419,067 (GRCm39)	missense	probably benign	0.00
R9458:Pde6a	UTSW	18	61,387,477 (GRCm39)	missense	probably damaging	1.00
RF018:Pde6a	UTSW	18	61,364,475 (GRCm39)	missense	possibly damaging	0.84
X0064:Pde6a	UTSW	18	61,398,019 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGGTAGAGTGCCTGTCAG -3'
(R):5'- TTCCGTGAACTGGAAGAACAG -3'

Sequencing Primer
(F):5'- TCCTCCTCCTTTTTCTAATGGATG -3'
(R):5'- GGCTAGCATGGCCTCCTCAG -3'

Posted On

2016-04-27