Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Pde6a'

571668

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61220482-61289924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61258293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 570 (T570A)

Ref Sequence

ENSEMBL: ENSMUSP00000025468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025468
AA Change: T570A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: T570A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000076842

SMART Domains

Protein: ENSMUSP00000100598
Gene: ENSMUSG00000057244

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S5	29	95	3.9e-30	PFAM
Pfam:Ribosomal_S5_C	112	185	1.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170335

SMART Domains

Protein: ENSMUSP00000133092
Gene: ENSMUSG00000091957

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	102	166	5.7e-34	PFAM
Pfam:Ribosomal_S5_C	185	256	2.4e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,143	M226K	probably benign	Het
2010300C02Rik	T	C	1: 37,614,618	T1036A	possibly damaging	Het
4921524L21Rik	T	G	18: 6,626,385	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311	D1061N	probably benign	Het
Abcc9	G	A	6: 142,671,593	P582S	probably damaging	Het
Abhd5	G	A	9: 122,379,573	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215	T315I	probably damaging	Het
Arntl2	G	A	6: 146,822,134	V321I	not run	Het
Asic5	C	T	3: 82,021,076	P491S	probably benign	Het
Atp5b	T	C	10: 128,085,522	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042	I51N	probably damaging	Het
C4b	A	G	17: 34,743,659	L23S	probably damaging	Het
C77080	A	G	4: 129,225,418	Y170H	probably damaging	Het
Cables2	A	G	2: 180,260,336	V410A		Het
Cdyl	A	G	13: 35,863,395	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,827,986	M194V	probably benign	Het
Colec11	T	A	12: 28,594,715	D260V	probably damaging	Het
Cux2	T	C	5: 121,861,256	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516	L254*	probably null	Het
Fam129b	T	C	2: 32,922,642	S468P	possibly damaging	Het
Fam43b	A	G	4: 138,395,841	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075	W386L	probably benign	Het
Fgd6	C	A	10: 94,139,881	T1386K	probably benign	Het
Fgd6	T	A	10: 94,044,047	C254*	probably null	Het
Fkbp7	G	T	2: 76,671,764	D98E	possibly damaging	Het
Gm8251	T	A	1: 44,060,916	K341*	probably null	Het
Hectd1	C	T	12: 51,785,852	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394		probably null	Het
Kcnj5	A	C	9: 32,322,749	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224	Y2348*	probably null	Het
Nlrc3	T	C	16: 3,963,590	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1129	T	A	2: 87,575,708	V208E	probably damaging	Het
Olfr1222	C	A	2: 89,124,836	R298S	probably benign	Het
Olfr527	A	T	7: 140,336,741	D293V	possibly damaging	Het
Pcna	A	G	2: 132,252,877	S54P	probably benign	Het
Phf21b	A	T	15: 84,855,717	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prob1	A	G	18: 35,653,299	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578		probably null	Het
Robo1	C	T	16: 72,989,631	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942		probably null	Het
Setd5	T	G	6: 113,147,557	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,458,739	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489	S113*	probably null	Het
Syne2	T	A	12: 76,103,036	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439	I38L	probably damaging	Het
Tepsin	G	T	11: 120,091,708	T512K	possibly damaging	Het
Utp20	A	G	10: 88,770,724	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372		probably null	Het
Zmynd8	T	C	2: 165,840,009	T201A	probably damaging	Het

Other mutations in Pde6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Pde6a	APN	18	61,257,268 (GRCm38)	missense	probably damaging	1.00
IGL00896:Pde6a	APN	18	61,220,792 (GRCm38)	missense	possibly damaging	0.94
IGL01595:Pde6a	APN	18	61,281,528 (GRCm38)	missense	probably damaging	0.98
IGL02971:Pde6a	APN	18	61,264,255 (GRCm38)	missense	probably damaging	1.00
caffeinated	UTSW	18	61,220,606 (GRCm38)	start codon destroyed	probably null	0.95
R0219:Pde6a	UTSW	18	61,285,935 (GRCm38)	missense	possibly damaging	0.57
R0968:Pde6a	UTSW	18	61,253,738 (GRCm38)	missense	probably damaging	0.99
R1304:Pde6a	UTSW	18	61,258,293 (GRCm38)	missense	probably damaging	0.99
R1498:Pde6a	UTSW	18	61,232,860 (GRCm38)	missense	possibly damaging	0.73
R1542:Pde6a	UTSW	18	61,257,045 (GRCm38)	missense	possibly damaging	0.93
R1734:Pde6a	UTSW	18	61,285,965 (GRCm38)	missense	probably damaging	1.00
R1795:Pde6a	UTSW	18	61,257,212 (GRCm38)	missense	probably damaging	1.00
R2173:Pde6a	UTSW	18	61,254,382 (GRCm38)	missense	probably damaging	1.00
R2280:Pde6a	UTSW	18	61,262,434 (GRCm38)	missense	probably damaging	1.00
R2281:Pde6a	UTSW	18	61,262,434 (GRCm38)	missense	probably damaging	1.00
R3617:Pde6a	UTSW	18	61,231,503 (GRCm38)	splice site	probably benign
R4620:Pde6a	UTSW	18	61,262,492 (GRCm38)	missense	probably damaging	1.00
R4727:Pde6a	UTSW	18	61,231,489 (GRCm38)	missense	probably benign	0.02
R4863:Pde6a	UTSW	18	61,245,592 (GRCm38)	missense	probably damaging	1.00
R4904:Pde6a	UTSW	18	61,265,034 (GRCm38)	missense	probably benign	0.08
R4945:Pde6a	UTSW	18	61,234,718 (GRCm38)	missense	probably damaging	1.00
R4953:Pde6a	UTSW	18	61,231,362 (GRCm38)	nonsense	probably null
R5323:Pde6a	UTSW	18	61,232,911 (GRCm38)	missense	possibly damaging	0.81
R5496:Pde6a	UTSW	18	61,253,665 (GRCm38)	critical splice acceptor site	probably null
R5540:Pde6a	UTSW	18	61,231,366 (GRCm38)	missense	probably damaging	0.99
R6180:Pde6a	UTSW	18	61,284,092 (GRCm38)	splice site	probably null
R6366:Pde6a	UTSW	18	61,265,071 (GRCm38)	splice site	probably null
R6743:Pde6a	UTSW	18	61,263,986 (GRCm38)	missense	possibly damaging	0.48
R7161:Pde6a	UTSW	18	61,281,525 (GRCm38)	missense	probably benign	0.05
R7186:Pde6a	UTSW	18	61,220,606 (GRCm38)	start codon destroyed	probably null	0.95
R7197:Pde6a	UTSW	18	61,258,224 (GRCm38)	missense	probably damaging	0.96
R7487:Pde6a	UTSW	18	61,249,960 (GRCm38)	missense	probably damaging	1.00
R7734:Pde6a	UTSW	18	61,232,866 (GRCm38)	missense	probably benign	0.10
R7818:Pde6a	UTSW	18	61,281,509 (GRCm38)	splice site	probably null
R8104:Pde6a	UTSW	18	61,231,494 (GRCm38)	missense	probably damaging	0.99
R8135:Pde6a	UTSW	18	61,285,925 (GRCm38)	missense	probably damaging	0.98
R8213:Pde6a	UTSW	18	61,220,696 (GRCm38)	missense	possibly damaging	0.94
R8266:Pde6a	UTSW	18	61,258,213 (GRCm38)	missense	probably damaging	1.00
R8429:Pde6a	UTSW	18	61,232,844 (GRCm38)	missense	probably damaging	0.98
R8472:Pde6a	UTSW	18	61,220,946 (GRCm38)	missense	probably damaging	1.00
R8805:Pde6a	UTSW	18	61,257,033 (GRCm38)	missense	probably benign	0.13
R8882:Pde6a	UTSW	18	61,245,548 (GRCm38)	missense
R9002:Pde6a	UTSW	18	61,285,989 (GRCm38)	missense	probably damaging	1.00
R9015:Pde6a	UTSW	18	61,263,976 (GRCm38)	missense	probably damaging	0.99
R9338:Pde6a	UTSW	18	61,221,037 (GRCm38)	missense	probably damaging	1.00
R9353:Pde6a	UTSW	18	61,257,311 (GRCm38)	missense	probably damaging	1.00
R9446:Pde6a	UTSW	18	61,285,996 (GRCm38)	missense	probably benign	0.00
R9458:Pde6a	UTSW	18	61,254,406 (GRCm38)	missense	probably damaging	1.00
RF018:Pde6a	UTSW	18	61,231,403 (GRCm38)	missense	possibly damaging	0.84
X0064:Pde6a	UTSW	18	61,264,948 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTACAGTACTTTCCCCGTGC -3'
(R):5'- ATCAGTGCTAGAAATTGAACCTCC -3'

Sequencing Primer
(F):5'- CCACGATTTGGGTCAGTGATG -3'
(R):5'- GTGCTAGAAATTGAACCTCCTAAGC -3'

Posted On

2019-09-13