Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Pde6a'

374710

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4863 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

61353387-61422995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61378663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 329 (I329F)

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: I329F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: I329F

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

0.3111

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fam193a	T	A	5: 34,623,549 (GRCm39)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itga3	T	A	11: 94,952,793 (GRCm39)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,491,123 (GRCm39)	D173G	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 24,796,533 (GRCm39)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	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
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
R4953:Pde6a	UTSW	18	61,364,434 (GRCm39)	nonsense	probably null
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'- GCACGGGTAAACTTCCTGTG -3'
(R):5'- GCGGTGTCTTTAATCAAGCTC -3'

Sequencing Primer
(F):5'- GGGTAAACTTCCTGTGTTCTTTTTC -3'
(R):5'- AAGACTGTGTTGGAGGCA -3'

Posted On

2016-03-17