Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Pde6b'

385719

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

042577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108536239-108579609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108573196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 522 (Q522L)

Ref Sequence

ENSEMBL: ENSMUSP00000031456 (fasta)

Gene Model

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

AlphaFold

P23440

Predicted Effect

probably benign
Transcript: ENSMUST00000031456
AA Change: Q522L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: Q522L

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

Meta Mutation Damage Score

0.0999

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,041,515 (GRCm39)	S215R	possibly damaging	Het
Abcc9	T	C	6: 142,627,867 (GRCm39)	M388V	probably benign	Het
Acbd6	A	C	1: 155,477,275 (GRCm39)	T154P	probably benign	Het
Ago1	T	C	4: 126,347,447 (GRCm39)	D434G	probably damaging	Het
Ankib1	A	T	5: 3,819,652 (GRCm39)	M89K	probably benign	Het
Arap2	A	T	5: 62,833,868 (GRCm39)	H866Q	probably damaging	Het
Armh3	T	C	19: 45,939,146 (GRCm39)	T335A	probably benign	Het
Capn12	A	T	7: 28,589,795 (GRCm39)	H622L	probably benign	Het
Capns2	T	G	8: 93,628,530 (GRCm39)	F140V	probably damaging	Het
Catsper1	T	G	19: 5,385,991 (GRCm39)	F75V	probably benign	Het
Ccdc24	T	C	4: 117,729,297 (GRCm39)	N16S	probably benign	Het
Cdkn2aip	A	T	8: 48,165,964 (GRCm39)	L114Q	probably damaging	Het
Cenpe	T	A	3: 134,940,689 (GRCm39)	S649R	probably damaging	Het
Chgb	A	T	2: 132,635,602 (GRCm39)	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,684,804 (GRCm39)	F123S	probably damaging	Het
Copz2	A	T	11: 96,748,377 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Daw1	C	A	1: 83,165,719 (GRCm39)	A178E	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epb41l5	T	C	1: 119,482,801 (GRCm39)	D629G	probably benign	Het
Erap1	A	G	13: 74,838,829 (GRCm39)	E925G	probably benign	Het
Exoc7	A	C	11: 116,180,095 (GRCm39)	F657V	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Homo
Fry	A	G	5: 150,321,719 (GRCm39)	E1018G	probably damaging	Het
Galc	A	T	12: 98,209,027 (GRCm39)	L15*	probably null	Het
Gm11232	T	A	4: 71,675,138 (GRCm39)	K121N	possibly damaging	Het
Hectd1	A	T	12: 51,831,045 (GRCm39)	D931E	probably benign	Het
Hecw2	T	C	1: 53,871,830 (GRCm39)	H1372R	probably benign	Het
Ighv3-2	T	A	12: 113,997,606 (GRCm39)		noncoding transcript	Het
Kcns2	T	G	15: 34,839,751 (GRCm39)	S371R	probably damaging	Het
Kif23	T	C	9: 61,843,985 (GRCm39)	K175E	probably benign	Het
Kmt2c	G	A	5: 25,500,509 (GRCm39)	R436W	possibly damaging	Het
Lama5	A	G	2: 179,835,242 (GRCm39)	S1317P	probably benign	Het
Lce1e	T	C	3: 92,615,135 (GRCm39)	S71G	unknown	Het
Lrrc37a	T	A	11: 103,388,444 (GRCm39)	E2327V	unknown	Het
Map3k20	A	G	2: 72,232,411 (GRCm39)	M356V	probably benign	Het
Med12l	C	T	3: 59,169,350 (GRCm39)	A1580V	probably damaging	Het
Metap2	G	T	10: 93,725,462 (GRCm39)	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,861,207 (GRCm39)	T53S	probably benign	Het
Nasp	A	T	4: 116,459,382 (GRCm39)	D717E	probably damaging	Het
Ndnf	G	A	6: 65,680,555 (GRCm39)	R278H	possibly damaging	Het
Neb	A	T	2: 52,106,273 (GRCm39)	N4205K	probably damaging	Het
Nebl	A	T	2: 17,380,082 (GRCm39)	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,148,313 (GRCm39)	Y131H	probably damaging	Het
Or14c39	A	C	7: 86,343,687 (GRCm39)	T8P	probably benign	Het
Or1e22	A	G	11: 73,377,623 (GRCm39)	I9T	probably benign	Het
Or5l14	G	T	2: 87,793,042 (GRCm39)	H65N	probably benign	Het
Oscp1	T	A	4: 125,970,555 (GRCm39)	C115S	probably benign	Het
Paip2	C	T	18: 35,746,412 (GRCm39)	R59C	possibly damaging	Het
Pate10	T	G	9: 35,653,465 (GRCm39)	F90V	probably benign	Het
Pcdhga4	G	A	18: 37,819,572 (GRCm39)	D374N	probably damaging	Het
Pcolce	G	T	5: 137,603,936 (GRCm39)		probably benign	Het
Pcyox1l	T	C	18: 61,832,468 (GRCm39)	E193G	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf11a	A	G	14: 59,521,887 (GRCm39)	F95L	probably benign	Het
Pja2	A	C	17: 64,616,053 (GRCm39)	S281A	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pom121l2	T	C	13: 22,167,984 (GRCm39)	S752P	probably benign	Het
Ppl	T	C	16: 4,906,582 (GRCm39)	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,976,995 (GRCm39)	Y569C	probably damaging	Het
Prss37	G	A	6: 40,493,070 (GRCm39)	T132I	probably benign	Het
Psmf1	A	T	2: 151,571,377 (GRCm39)		probably benign	Het
Ptprj	A	C	2: 90,290,876 (GRCm39)	I528S	probably damaging	Het
Reg1	A	G	6: 78,405,196 (GRCm39)	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,657,217 (GRCm39)	N457S	probably benign	Het
Rusf1	C	T	7: 127,875,645 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,396,614 (GRCm39)	K93R	probably benign	Het
Sec16a	A	G	2: 26,329,531 (GRCm39)	V828A	probably benign	Het
Sec23b	T	A	2: 144,423,873 (GRCm39)	D507E	probably benign	Het
Sirt4	A	T	5: 115,620,850 (GRCm39)	F107L	probably benign	Het
Slc14a2	A	T	18: 78,193,616 (GRCm39)	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,208,176 (GRCm39)	S229P	probably benign	Het
Slc37a3	A	T	6: 39,329,651 (GRCm39)	C185*	probably null	Het
Slc5a2	A	T	7: 127,870,982 (GRCm39)	*154C	probably null	Het
Snx17	A	G	5: 31,353,138 (GRCm39)	S42G	possibly damaging	Het
Tgm6	T	C	2: 129,983,113 (GRCm39)	V234A	probably damaging	Het
Thbs4	A	G	13: 92,927,207 (GRCm39)	M94T	probably benign	Het
Thtpa	A	G	14: 55,309,605 (GRCm39)		probably benign	Het
Tie1	T	C	4: 118,340,952 (GRCm39)	E343G	probably damaging	Het
Tmem145	A	G	7: 25,008,027 (GRCm39)	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,685,858 (GRCm39)	S170G	probably benign	Het
Tnk2	T	A	16: 32,499,283 (GRCm39)	D865E	probably damaging	Het
Ttll8	T	C	15: 88,809,785 (GRCm39)	E337G	probably benign	Het
Ttn	G	A	2: 76,697,790 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,990,494 (GRCm39)	E710G	probably damaging	Het
Txndc2	T	A	17: 65,945,055 (GRCm39)	H374L	probably benign	Het
Unc80	G	T	1: 66,713,891 (GRCm39)		probably null	Het
Vmn2r23	G	A	6: 123,710,308 (GRCm39)	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,486,116 (GRCm39)	F391L	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zfp180	C	T	7: 23,805,503 (GRCm39)	R641C	probably damaging	Het
Zfp979	A	T	4: 147,698,371 (GRCm39)	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het
Zswim5	T	A	4: 116,842,883 (GRCm39)	M876K	possibly damaging	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
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
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'- TGCTTGGACAATGGTTCAGAG -3'
(R):5'- GCCAAGTATACTTCACTGTGATGG -3'

Sequencing Primer
(F):5'- TGCTTGGACAATGGTTCAGAGAAAAG -3'
(R):5'- ACTTCACTGTGATGGACATGTTTGAC -3'

Posted On

2016-05-10