Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Pde6b'

561199

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

045341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108536239-108579609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108551956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 212 (Y212H)

Ref Sequence

ENSEMBL: ENSMUSP00000031456 (fasta)

Gene Model

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

AlphaFold

P23440

Predicted Effect

probably damaging
Transcript: ENSMUST00000031456
AA Change: Y212H

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

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: Y212H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cspg4b	T	A	13: 113,454,475 (GRCm39)	F174I		Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Dclre1a	T	C	19: 56,518,067 (GRCm39)	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gk5	C	T	9: 96,027,765 (GRCm39)	T200M	probably damaging	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Spg7	C	T	8: 123,816,971 (GRCm39)	A554V	probably damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp180	G	T	7: 23,803,938 (GRCm39)	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	probably 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
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
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'- TGTGTGATACTTCCTCCAGACC -3'
(R):5'- GTTCTCTTAGGCTAGAGTCATGC -3'

Sequencing Primer
(F):5'- CCAGACCTTTGGAGTATGCATC -3'
(R):5'- GCTTTGACTAGATATCACAGTGTCTG -3'

Posted On

2019-06-26