Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Pde6b'

193727

Institutional Source

Beutler Lab

Gene Symbol

Pde6b

Ensembl Gene

ENSMUSG00000029491

Gene Name

phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

Synonyms

rd, rd10, rd1, r, Pdeb

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108536239-108579609 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 108536557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 84 (C84*)

Ref Sequence

ENSEMBL: ENSMUSP00000031456 (fasta)

Gene Model

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

AlphaFold

P23440

Predicted Effect

probably null
Transcript: ENSMUST00000031456
AA Change: C84*

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: C84*

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: ENSMUST00000134865

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,864,542 (GRCm39)	F409I	probably benign	Het
Adamts19	A	C	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,696,240 (GRCm39)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,865,910 (GRCm39)	I486S	probably benign	Het
Adgrg5	T	C	8: 95,668,680 (GRCm39)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,627,134 (GRCm39)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,421,974 (GRCm39)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,133,992 (GRCm39)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,507,352 (GRCm39)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cd2	A	T	3: 101,194,815 (GRCm39)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,814,688 (GRCm39)	Y157*	probably null	Het
Celsr3	G	T	9: 108,709,056 (GRCm39)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,704,235 (GRCm39)	G961S	probably damaging	Het
Cep290	T	C	10: 100,349,843 (GRCm39)	V630A	probably benign	Het
Chd5	C	T	4: 152,463,272 (GRCm39)	S1451F	probably damaging	Het
Cldn23	A	C	8: 36,293,140 (GRCm39)	L116R	possibly damaging	Het
Cngb1	A	T	8: 96,024,401 (GRCm39)		probably benign	Het
Cpb1	G	T	3: 20,320,405 (GRCm39)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,078,918 (GRCm39)	F261S	probably damaging	Het
Crlf3	A	C	11: 79,948,698 (GRCm39)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,207,134 (GRCm39)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,061,085 (GRCm39)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,120,741 (GRCm39)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,009,669 (GRCm39)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,923,342 (GRCm39)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,163,910 (GRCm39)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,350,284 (GRCm39)	S13T	probably benign	Het
Ercc6	T	C	14: 32,298,956 (GRCm39)	V1448A	probably benign	Het
Esp24	A	G	17: 39,350,893 (GRCm39)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,837,969 (GRCm39)	M338K	probably benign	Het
Fbxl9	A	T	8: 106,039,824 (GRCm39)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 44,137,265 (GRCm39)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,868,338 (GRCm39)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,237,404 (GRCm39)	C372W	probably damaging	Het
Grn	T	G	11: 102,324,093 (GRCm39)	C61G	probably damaging	Het
Herc1	T	G	9: 66,376,292 (GRCm39)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,409,366 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,347,461 (GRCm39)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,260 (GRCm39)	H399L	probably benign	Het
Irx3	G	A	8: 92,527,362 (GRCm39)	P114L	probably damaging	Het
Kat6a	T	A	8: 23,425,813 (GRCm39)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,741,363 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,897,869 (GRCm39)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,326,833 (GRCm39)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,323,784 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,750,417 (GRCm39)	M978T	probably benign	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Mpo	A	G	11: 87,686,707 (GRCm39)	N85D	probably benign	Het
Mpp4	T	C	1: 59,183,969 (GRCm39)	D244G	probably null	Het
Mstn	A	G	1: 53,105,717 (GRCm39)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,255,358 (GRCm39)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,380,157 (GRCm39)	R308G	probably benign	Het
Myh11	A	T	16: 14,095,734 (GRCm39)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,410,392 (GRCm39)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,598,431 (GRCm39)	T122N	possibly damaging	Het
Nras	A	G	3: 102,966,295 (GRCm39)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,628,652 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,439 (GRCm39)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,622,263 (GRCm39)	N312S	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,633,106 (GRCm39)	F124L	probably benign	Het
Or9s14	G	A	1: 92,536,122 (GRCm39)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,715,094 (GRCm39)	T920S	probably benign	Het
Pcdh9	T	C	14: 94,124,661 (GRCm39)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pex1	A	T	5: 3,680,044 (GRCm39)	N914I	probably damaging	Het
Pign	A	G	1: 105,517,042 (GRCm39)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,173,112 (GRCm39)	K489E	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Radil	T	C	5: 142,481,091 (GRCm39)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 78,996,098 (GRCm39)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
Rnaset2b	G	A	17: 7,248,506 (GRCm39)		probably null	Het
S1pr1	A	G	3: 115,505,587 (GRCm39)	S336P	probably benign	Het
Slc24a5	A	G	2: 124,925,115 (GRCm39)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,218,733 (GRCm39)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,471,597 (GRCm39)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,723,976 (GRCm39)	H211R	probably damaging	Het
Slu7	A	G	11: 43,330,095 (GRCm39)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,800,820 (GRCm39)	Y131*	probably null	Het
Syne1	A	G	10: 5,317,621 (GRCm39)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,329 (GRCm39)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,866,919 (GRCm39)	E660D	probably benign	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,582,605 (GRCm39)	M22763L	probably benign	Het
Ubp1	A	T	9: 113,785,037 (GRCm39)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,234,756 (GRCm39)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,577,669 (GRCm39)	Q290*	probably null	Het
Vnn3	T	C	10: 23,741,718 (GRCm39)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,189,945 (GRCm39)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,753,313 (GRCm39)	E625*	probably null	Het
Wdr6	C	T	9: 108,452,363 (GRCm39)	V507I	probably damaging	Het
Zp2	A	T	7: 119,737,328 (GRCm39)	W287R	probably benign	Het

Other mutations in Pde6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Pde6b	APN	5	108,574,437 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTTGGGAAGAAGTTGAGCCCTG -3'
(R):5'- CTCTGCACCATAGCTGGAGAACAC -3'

Sequencing Primer
(F):5'- GTTGAGCCCTGAAAATGTGG -3'
(R):5'- CTTGGTCTGAGCCACATGG -3'

Posted On

2014-05-23