Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Pde6b'

685990

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

068846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108536239-108579609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108536592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 96 (M96K)

Ref Sequence

ENSEMBL: ENSMUSP00000031456 (fasta)

Gene Model

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

AlphaFold

P23440

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031456
AA Change: M96K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: M96K

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	C	A	18: 74,932,154 (GRCm39)	S264R	probably damaging	Het
Agap1	T	C	1: 89,694,188 (GRCm39)		probably null	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Apob	C	T	12: 8,035,408 (GRCm39)		silent	Het
Atg2a	G	C	19: 6,300,111 (GRCm39)	A640P	probably damaging	Het
AW209491	G	A	13: 14,812,193 (GRCm39)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,854,460 (GRCm39)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,971,705 (GRCm39)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,751,417 (GRCm39)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 28,891,162 (GRCm39)	M627K	probably benign	Het
Cdk7	G	A	13: 100,854,126 (GRCm39)	T121I	probably benign	Het
Csmd3	T	A	15: 47,522,438 (GRCm39)	T1833S		Het
Dapk3	A	T	10: 81,028,266 (GRCm39)	R279W	probably damaging	Het
Dennd2b	A	C	7: 109,139,642 (GRCm39)	D645E	possibly damaging	Het
Dnah9	T	C	11: 65,998,856 (GRCm39)	E1064G	probably damaging	Het
Dner	T	C	1: 84,673,226 (GRCm39)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,847,855 (GRCm39)	E229G	possibly damaging	Het
Fam171a1	G	A	2: 3,227,434 (GRCm39)	A856T	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fen1	A	T	19: 10,178,306 (GRCm39)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,554,454 (GRCm39)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,243,136 (GRCm39)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,783,923 (GRCm39)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,249,870 (GRCm39)	E447V	probably benign	Het
Gja8	T	C	3: 96,827,521 (GRCm39)	D47G	probably damaging	Het
Gm5795	A	G	14: 14,883,574 (GRCm39)	K144E	probably benign	Het
Gm7298	A	C	6: 121,758,800 (GRCm39)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 165,992,730 (GRCm39)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 37,084,226 (GRCm39)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,823,956 (GRCm39)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,754,046 (GRCm39)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,201,073 (GRCm39)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,744,326 (GRCm39)	T1479A	probably benign	Het
Kif1a	C	T	1: 92,953,395 (GRCm39)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,856,467 (GRCm39)	T686A	probably benign	Het
Med12l	A	T	3: 59,163,294 (GRCm39)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,651,062 (GRCm39)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,775,427 (GRCm39)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,623,491 (GRCm39)	M1V	probably null	Het
Nos3	G	T	5: 24,588,639 (GRCm39)	V1122F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Odad1	T	G	7: 45,585,988 (GRCm39)	C128W	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or52n4	A	T	7: 104,293,828 (GRCm39)	C250*	probably null	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
P2rx6	T	A	16: 17,385,304 (GRCm39)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm39)	C12R	unknown	Het
Polq	T	A	16: 36,843,159 (GRCm39)	L231Q	probably damaging	Het
Pramel23	T	C	4: 143,423,899 (GRCm39)	I297V	possibly damaging	Het
Prrc2a	G	A	17: 35,378,844 (GRCm39)	T399I	unknown	Het
Rapsn	A	G	2: 90,867,172 (GRCm39)	D158G	probably damaging	Het
Rcor1	T	A	12: 111,047,933 (GRCm39)		probably benign	Het
Sema4d	G	T	13: 51,867,794 (GRCm39)	P186T	probably damaging	Het
Skic2	A	C	17: 35,063,640 (GRCm39)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Sox15	T	G	11: 69,546,529 (GRCm39)	Y111D	probably damaging	Het
Spen	C	T	4: 141,200,938 (GRCm39)	C2563Y	probably damaging	Het
Taf8	A	T	17: 47,807,527 (GRCm39)	D153E	probably damaging	Het
Tet3	G	A	6: 83,345,253 (GRCm39)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,737,778 (GRCm39)	D427E	probably benign	Het
Tmem53	T	C	4: 117,125,451 (GRCm39)	I188T	probably benign	Het
Tnc	T	G	4: 63,935,331 (GRCm39)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,692,544 (GRCm39)	G867R	probably damaging	Het
Uba3	A	T	6: 97,162,694 (GRCm39)	C367*	probably null	Het
Vmn1r235	G	T	17: 21,481,969 (GRCm39)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,442,109 (GRCm39)	E108G	probably benign	Het
Xrra1	T	A	7: 99,525,462 (GRCm39)	I127N	probably benign	Het
Zc3h18	G	A	8: 123,129,963 (GRCm39)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,798,340 (GRCm39)	P179Q	probably damaging	Het
Zfp526	C	T	7: 24,925,264 (GRCm39)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,320,404 (GRCm39)	K203E	probably benign	Het
Zfp979	A	G	4: 147,697,504 (GRCm39)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	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
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
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'- AGCCCTGAAAATGTGGCAG -3'
(R):5'- GCACCATAGCTGGAGAACAC -3'

Sequencing Primer
(F):5'- CAGGGGCCTGTGAAGATG -3'
(R):5'- GCTGGAGAACACCCACCTCTG -3'

Posted On

2021-10-11