Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Pde6a'

557613

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61353387-61422995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61414596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 714 (M714L)

Ref Sequence

ENSEMBL: ENSMUSP00000025468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025468
AA Change: M714L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: M714L

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

SMART Domains

Protein: ENSMUSP00000115963
Gene: ENSMUSG00000024575
AA Change: M35L

Domain	Start	End	E-Value	Type
Pfam:PDEase_I	8	125	1.1e-30	PFAM
low complexity region	139	159	N/A	INTRINSIC
low complexity region	161	175	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	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
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
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'- CTTAGAGAGCTGAGCCCAATGG -3'
(R):5'- AAAGAGGAAACCCTGGTATTCCC -3'

Sequencing Primer
(F):5'- CCTCTGATTATATACAGAGGCTGGAC -3'
(R):5'- CACTCTTCACTGGAGAACCGGAG -3'

Posted On

2019-06-26