Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Pde6a'

171879

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

MMRRC Submission

039581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61353387-61422995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61390116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 490 (I490N)

Ref Sequence

ENSEMBL: ENSMUSP00000025468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025468
AA Change: I490N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: I490N

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,055 (GRCm39)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 57,156,791 (GRCm39)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,454,559 (GRCm39)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,266,286 (GRCm39)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,507,450 (GRCm39)	C112S	probably benign	Het
Als2cl	T	C	9: 110,723,102 (GRCm39)	V602A	probably benign	Het
Angptl2	G	T	2: 33,118,897 (GRCm39)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,127,825 (GRCm39)		probably null	Het
Aqp2	A	C	15: 99,481,723 (GRCm39)	I206L	probably benign	Het
Asap2	A	G	12: 21,315,998 (GRCm39)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,353,525 (GRCm39)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,360,054 (GRCm39)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,321,073 (GRCm39)	H331Y	probably benign	Het
Cd33	A	G	7: 43,181,530 (GRCm39)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,177,680 (GRCm39)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,825,061 (GRCm39)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,443,218 (GRCm39)	R970C	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,660,738 (GRCm39)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,207,418 (GRCm39)	M621L	probably benign	Het
Elp4	G	T	2: 105,624,954 (GRCm39)	T313N	probably benign	Het
Epas1	T	A	17: 87,131,918 (GRCm39)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,126,367 (GRCm39)	M71L	probably benign	Het
Fry	C	T	5: 150,328,431 (GRCm39)	T1257I	probably benign	Het
Gm21834	A	G	17: 58,048,946 (GRCm39)	F90S	possibly damaging	Het
Gm8674	T	A	13: 50,054,039 (GRCm39)		noncoding transcript	Het
Gna11	T	C	10: 81,369,162 (GRCm39)	T134A	probably benign	Het
Golga5	C	T	12: 102,440,979 (GRCm39)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,397,067 (GRCm39)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,746,338 (GRCm39)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,196,153 (GRCm39)	V253M	possibly damaging	Het
Insl5	A	T	4: 102,875,382 (GRCm39)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,395,320 (GRCm39)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,781,012 (GRCm39)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,566,352 (GRCm39)	D392N	probably null	Het
Lrp1b	G	T	2: 41,013,724 (GRCm39)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,454,793 (GRCm39)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 120,272,986 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,661,981 (GRCm39)	S330T	probably benign	Het
Mical2	T	C	7: 111,908,675 (GRCm39)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,922,102 (GRCm39)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm39)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,231,113 (GRCm39)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,147,623 (GRCm39)		probably null	Het
Nup62	A	G	7: 44,479,353 (GRCm39)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,964,318 (GRCm39)	W1301R	probably damaging	Het
Oprm1	G	T	10: 6,738,960 (GRCm39)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,983,142 (GRCm39)	E76V	probably damaging	Het
Or1l4b	T	A	2: 37,036,978 (GRCm39)	S251R	probably damaging	Het
Or2c1	T	A	16: 3,657,696 (GRCm39)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,583,662 (GRCm39)	V225A	probably damaging	Het
Pals2	A	G	6: 50,175,306 (GRCm39)	Y539C	probably damaging	Het
Pcnt	T	G	10: 76,225,221 (GRCm39)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,237,220 (GRCm39)	M1355I	probably benign	Het
Pde11a	A	T	2: 75,877,199 (GRCm39)	S757T	probably benign	Het
Pgap1	A	G	1: 54,531,249 (GRCm39)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,017,772 (GRCm39)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,824,179 (GRCm39)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,050,124 (GRCm39)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,751,402 (GRCm39)	H300N	probably benign	Het
Prpf3	T	A	3: 95,743,782 (GRCm39)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,214,672 (GRCm39)	V914I	probably benign	Het
Rasal2	T	C	1: 157,003,421 (GRCm39)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,314,473 (GRCm39)	V382I	possibly damaging	Het
Rere	T	A	4: 150,700,399 (GRCm39)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,672,988 (GRCm39)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,002,428 (GRCm39)	E162A	probably damaging	Het
Septin12	G	T	16: 4,810,159 (GRCm39)	D125E	probably benign	Het
Serpina6	A	G	12: 103,620,732 (GRCm39)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,200,517 (GRCm39)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,252,928 (GRCm39)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,230,376 (GRCm39)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,404,680 (GRCm39)	I245T	probably damaging	Het
Spink2	G	A	5: 77,354,812 (GRCm39)	T33I	probably damaging	Het
Sptan1	A	G	2: 29,917,139 (GRCm39)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,075,292 (GRCm39)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,957,873 (GRCm39)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,395,840 (GRCm39)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,686,495 (GRCm39)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,191,047 (GRCm39)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,365,426 (GRCm39)		probably null	Het
Tmc1	T	A	19: 20,793,486 (GRCm39)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,020,434 (GRCm39)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 123,342,146 (GRCm39)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,664,519 (GRCm39)	Y953*	probably null	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,034,983 (GRCm39)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,512,520 (GRCm39)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,494,226 (GRCm39)	N272K	possibly damaging	Het
Zfp526	G	A	7: 24,925,687 (GRCm39)	E649K	probably benign	Het
Zswim6	G	A	13: 107,863,769 (GRCm39)		noncoding transcript	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
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
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'- GCTTCTGCTGGAGAAGGGGCCAAAG -3'
(R):5'- AAGACCAGGCTGCACCACATGCTG -3'

Sequencing Primer
(F):5'- GGGGCCAAAGCAAACGC -3'
(R):5'- GGAACTTGTCCACCACTCTGAG -3'

Posted On

2014-04-13