Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00534:Pde6b'

12958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde6b

Ensembl Gene

ENSMUSG00000029491

Gene Name

phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

Synonyms

rd, rd10, rd1, r, Pdeb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00534

Quality Score

Status

Chromosome

Chromosomal Location

108536239-108579609 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 108574437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031456]

AlphaFold

P23440

Predicted Effect

probably benign
Transcript: ENSMUST00000031456

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491

Domain	Start	End	E-Value	Type
GAF	71	230	1.29e-27	SMART
GAF	252	439	5.76e-25	SMART
Blast:HDc	484	538	1e-24	BLAST
HDc	554	732	1.25e-9	SMART
Blast:HDc	757	792	8e-13	BLAST
low complexity region	813	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134865

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes. [provided by MGI curators]

Allele List at MGI

All alleles(13) : Targeted, knock-out(1) Targeted, other(1) Spontaneous(2) Chemically induced(9)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsj	G	T	3: 126,158,594 (GRCm39)	A58S	probably benign	Het
Dchs1	A	T	7: 105,407,150 (GRCm39)	S2148T	probably benign	Het
Esd	T	C	14: 74,975,901 (GRCm39)	V34A	probably damaging	Het
Esyt1	A	G	10: 128,351,553 (GRCm39)		probably null	Het
Glce	G	A	9: 61,967,765 (GRCm39)	T462M	probably damaging	Het
Gm382	A	G	X: 125,971,238 (GRCm39)	Y1141C	probably damaging	Het
H2-T5	A	T	17: 36,479,021 (GRCm39)	I76N	probably damaging	Het
Hsd3b1	T	C	3: 98,760,562 (GRCm39)	E143G	probably damaging	Het
Igf2r	T	C	17: 12,958,215 (GRCm39)	T153A	probably damaging	Het
Irs1	A	G	1: 82,266,192 (GRCm39)	S675P	probably benign	Het
Lars1	A	T	18: 42,362,719 (GRCm39)	H573Q	probably damaging	Het
Lman2	T	C	13: 55,499,055 (GRCm39)	E237G	possibly damaging	Het
Map2k4	C	A	11: 65,610,305 (GRCm39)		probably benign	Het
Pomgnt1	T	C	4: 116,009,958 (GRCm39)	L136P	probably damaging	Het
Ralgapb	T	A	2: 158,272,420 (GRCm39)	M158K	possibly damaging	Het
Serpina3n	A	G	12: 104,378,604 (GRCm39)	E308G	probably benign	Het
Sgo2a	T	A	1: 58,055,503 (GRCm39)	N562K	probably damaging	Het
Sipa1l2	T	C	8: 126,218,545 (GRCm39)	Y264C	probably damaging	Het
Snx27	G	A	3: 94,469,279 (GRCm39)	H21Y	probably damaging	Het

Other mutations in Pde6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Pde6b	APN	5	108,567,581 (GRCm39)	nonsense	probably null
IGL01335:Pde6b	APN	5	108,571,379 (GRCm39)	missense	probably benign	0.03
IGL01611:Pde6b	APN	5	108,551,262 (GRCm39)	missense	possibly damaging	0.90
IGL01881:Pde6b	APN	5	108,569,366 (GRCm39)	missense	probably benign	0.01
IGL01941:Pde6b	APN	5	108,570,902 (GRCm39)	missense	probably benign	0.11
IGL02616:Pde6b	APN	5	108,579,407 (GRCm39)	missense	probably benign	0.05
IGL02657:Pde6b	APN	5	108,568,142 (GRCm39)	splice site	probably benign
IGL03217:Pde6b	APN	5	108,567,432 (GRCm39)	missense	probably damaging	1.00
Bemr28	UTSW	5	0 ()	unclassified
D4043:Pde6b	UTSW	5	108,573,222 (GRCm39)	nonsense	probably null
N/A:Pde6b	UTSW	5	108,576,969 (GRCm39)	unclassified	probably benign
PIT4362001:Pde6b	UTSW	5	108,571,451 (GRCm39)	critical splice donor site	probably null
PIT4581001:Pde6b	UTSW	5	108,576,374 (GRCm39)	missense	probably benign	0.01
R0940:Pde6b	UTSW	5	108,568,203 (GRCm39)	missense	possibly damaging	0.95
R0963:Pde6b	UTSW	5	108,578,534 (GRCm39)	missense	probably benign
R1738:Pde6b	UTSW	5	108,578,425 (GRCm39)	nonsense	probably null
R1753:Pde6b	UTSW	5	108,536,557 (GRCm39)	nonsense	probably null
R1801:Pde6b	UTSW	5	108,575,713 (GRCm39)	missense	possibly damaging	0.51
R1913:Pde6b	UTSW	5	108,575,056 (GRCm39)	missense	probably benign	0.05
R2131:Pde6b	UTSW	5	108,576,069 (GRCm39)	missense	probably damaging	1.00
R2282:Pde6b	UTSW	5	108,571,452 (GRCm39)	splice site	probably null
R3713:Pde6b	UTSW	5	108,570,928 (GRCm39)	missense	probably damaging	1.00
R4385:Pde6b	UTSW	5	108,575,508 (GRCm39)	missense	probably benign	0.08
R4562:Pde6b	UTSW	5	108,551,234 (GRCm39)	missense	probably benign	0.23
R4582:Pde6b	UTSW	5	108,573,097 (GRCm39)	critical splice acceptor site	probably null
R4939:Pde6b	UTSW	5	108,569,363 (GRCm39)	missense	probably benign	0.01
R4950:Pde6b	UTSW	5	108,578,569 (GRCm39)	missense	probably benign	0.16
R4972:Pde6b	UTSW	5	108,573,130 (GRCm39)	missense	probably benign	0.00
R4983:Pde6b	UTSW	5	108,573,196 (GRCm39)	missense	probably benign	0.21
R5056:Pde6b	UTSW	5	108,571,357 (GRCm39)	nonsense	probably null
R5514:Pde6b	UTSW	5	108,571,317 (GRCm39)	missense	probably benign	0.06
R5528:Pde6b	UTSW	5	108,571,424 (GRCm39)	missense	probably benign	0.04
R5937:Pde6b	UTSW	5	108,572,193 (GRCm39)	missense	probably benign	0.00
R6556:Pde6b	UTSW	5	108,569,367 (GRCm39)	missense	possibly damaging	0.56
R6826:Pde6b	UTSW	5	108,578,458 (GRCm39)	nonsense	probably null
R6884:Pde6b	UTSW	5	108,536,574 (GRCm39)	missense	probably damaging	0.99
R7213:Pde6b	UTSW	5	108,551,956 (GRCm39)	missense	probably damaging	1.00
R7444:Pde6b	UTSW	5	108,575,008 (GRCm39)	nonsense	probably null
R7690:Pde6b	UTSW	5	108,567,384 (GRCm39)	missense	probably damaging	1.00
R7909:Pde6b	UTSW	5	108,551,288 (GRCm39)	missense	probably benign	0.01
R7937:Pde6b	UTSW	5	108,567,639 (GRCm39)	critical splice donor site	probably null
R8049:Pde6b	UTSW	5	108,573,118 (GRCm39)	missense	probably benign	0.04
R8087:Pde6b	UTSW	5	108,536,328 (GRCm39)	missense	probably benign	0.00
R8698:Pde6b	UTSW	5	108,576,105 (GRCm39)	missense	possibly damaging	0.87
R8822:Pde6b	UTSW	5	108,551,328 (GRCm39)	missense	probably benign	0.00
R8985:Pde6b	UTSW	5	108,578,503 (GRCm39)	missense	probably benign	0.02
R9016:Pde6b	UTSW	5	108,536,592 (GRCm39)	missense	possibly damaging	0.88
R9292:Pde6b	UTSW	5	108,536,751 (GRCm39)	missense	probably benign	0.00
R9323:Pde6b	UTSW	5	108,551,298 (GRCm39)	missense	probably damaging	1.00
R9414:Pde6b	UTSW	5	108,567,592 (GRCm39)	missense	possibly damaging	0.82
R9486:Pde6b	UTSW	5	108,551,241 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-12-06