Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Pde6a'

685064

Institutional Source

Beutler Lab

Gene Symbol

Pde6a

Ensembl Gene

ENSMUSG00000024575

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

Pdea

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61220482-61289924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61285989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 812 (L812Q)

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: L812Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: L812Q

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: L133Q

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: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Hivep2	G	T	10: 14,132,413	R1585L	probably benign	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,576,227	C410Y	probably benign	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,714,959	T363I	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr522	T	C	7: 140,162,285	I222V	probably damaging	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly damaging	Het

Other mutations in Pde6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Pde6a	APN	18	61257268	missense	probably damaging	1.00
IGL00896:Pde6a	APN	18	61220792	missense	possibly damaging	0.94
IGL01595:Pde6a	APN	18	61281528	missense	probably damaging	0.98
IGL02971:Pde6a	APN	18	61264255	missense	probably damaging	1.00
caffeinated	UTSW	18	61220606	start codon destroyed	probably null	0.95
R0219:Pde6a	UTSW	18	61285935	missense	possibly damaging	0.57
R0968:Pde6a	UTSW	18	61253738	missense	probably damaging	0.99
R1304:Pde6a	UTSW	18	61258293	missense	probably damaging	0.99
R1498:Pde6a	UTSW	18	61232860	missense	possibly damaging	0.73
R1542:Pde6a	UTSW	18	61257045	missense	possibly damaging	0.93
R1734:Pde6a	UTSW	18	61285965	missense	probably damaging	1.00
R1795:Pde6a	UTSW	18	61257212	missense	probably damaging	1.00
R2173:Pde6a	UTSW	18	61254382	missense	probably damaging	1.00
R2280:Pde6a	UTSW	18	61262434	missense	probably damaging	1.00
R2281:Pde6a	UTSW	18	61262434	missense	probably damaging	1.00
R3617:Pde6a	UTSW	18	61231503	splice site	probably benign
R4620:Pde6a	UTSW	18	61262492	missense	probably damaging	1.00
R4727:Pde6a	UTSW	18	61231489	missense	probably benign	0.02
R4863:Pde6a	UTSW	18	61245592	missense	probably damaging	1.00
R4904:Pde6a	UTSW	18	61265034	missense	probably benign	0.08
R4945:Pde6a	UTSW	18	61234718	missense	probably damaging	1.00
R4953:Pde6a	UTSW	18	61231362	nonsense	probably null
R5323:Pde6a	UTSW	18	61232911	missense	possibly damaging	0.81
R5496:Pde6a	UTSW	18	61253665	critical splice acceptor site	probably null
R5540:Pde6a	UTSW	18	61231366	missense	probably damaging	0.99
R6180:Pde6a	UTSW	18	61284092	splice site	probably null
R6366:Pde6a	UTSW	18	61265071	splice site	probably null
R6743:Pde6a	UTSW	18	61263986	missense	possibly damaging	0.48
R7161:Pde6a	UTSW	18	61281525	missense	probably benign	0.05
R7186:Pde6a	UTSW	18	61220606	start codon destroyed	probably null	0.95
R7197:Pde6a	UTSW	18	61258224	missense	probably damaging	0.96
R7296:Pde6a	UTSW	18	61258293	missense	probably damaging	0.99
R7487:Pde6a	UTSW	18	61249960	missense	probably damaging	1.00
R7734:Pde6a	UTSW	18	61232866	missense	probably benign	0.10
R7818:Pde6a	UTSW	18	61281509	splice site	probably null
R8104:Pde6a	UTSW	18	61231494	missense	probably damaging	0.99
R8135:Pde6a	UTSW	18	61285925	missense	probably damaging	0.98
R8213:Pde6a	UTSW	18	61220696	missense	possibly damaging	0.94
R8266:Pde6a	UTSW	18	61258213	missense	probably damaging	1.00
R8429:Pde6a	UTSW	18	61232844	missense	probably damaging	0.98
R8472:Pde6a	UTSW	18	61220946	missense	probably damaging	1.00
R8805:Pde6a	UTSW	18	61257033	missense	probably benign	0.13
R8882:Pde6a	UTSW	18	61245548	missense
R9015:Pde6a	UTSW	18	61263976	missense	probably damaging	0.99
R9338:Pde6a	UTSW	18	61221037	missense	probably damaging	1.00
R9353:Pde6a	UTSW	18	61257311	missense	probably damaging	1.00
R9446:Pde6a	UTSW	18	61285996	missense	probably benign	0.00
R9458:Pde6a	UTSW	18	61254406	missense	probably damaging	1.00
RF018:Pde6a	UTSW	18	61231403	missense	possibly damaging	0.84
X0064:Pde6a	UTSW	18	61264948	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTGGTCCCTAGATAGAGGCTG -3'
(R):5'- GGCCACAATACTTCACCTTCAG -3'

Sequencing Primer
(F):5'- CTAGGGTCCTGTAGTTGATCATAAAG -3'
(R):5'- TTCAGCAGGCTCAGGGC -3'

Posted On

2021-10-11