Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Rd3'

17934

Institutional Source

Beutler Lab

Gene Symbol

Rd3

Ensembl Gene

ENSMUSG00000049353

Gene Name

retinal degeneration 3

Synonyms

rd3, rd-3

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

191977370-191988283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 191985300 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 244 (M244V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175680] [ENSMUST00000180463] [ENSMUST00000181512]

Predicted Effect

probably benign
Transcript: ENSMUST00000053463
AA Change: M244V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000050188
Gene: ENSMUSG00000049353
AA Change: M244V

Domain	Start	End	E-Value	Type
Pfam:RD3	120	248	3.3e-48	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000175680

SMART Domains

Protein: ENSMUSP00000135650
Gene: ENSMUSG00000049353

Domain	Start	End	E-Value	Type
Pfam:RD3	4	79	4.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180429

Predicted Effect

probably benign
Transcript: ENSMUST00000180463
AA Change: M129V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138049
Gene: ENSMUSG00000049353
AA Change: M129V

Domain	Start	End	E-Value	Type
Pfam:RD3	4	134	2.2e-50	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000181512

SMART Domains

Protein: ENSMUSP00000137756
Gene: ENSMUSG00000049353

Domain	Start	End	E-Value	Type
Pfam:RD3	4	79	4.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226862

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Rd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Rd3	APN	1	191985322	missense	possibly damaging	0.84
IGL02319:Rd3	APN	1	191983491	missense	probably null	1.00
R0098:Rd3	UTSW	1	191985300	missense	probably benign	0.05
R0458:Rd3	UTSW	1	191977453	missense	probably damaging	0.96
R0537:Rd3	UTSW	1	191983540	missense	probably damaging	1.00
R0991:Rd3	UTSW	1	191985238	missense	probably damaging	0.98
R1344:Rd3	UTSW	1	191985301	makesense	probably null
R2168:Rd3	UTSW	1	191983527	missense	probably damaging	0.97
R3898:Rd3	UTSW	1	191985256	missense	probably damaging	1.00
R3899:Rd3	UTSW	1	191985256	missense	probably damaging	1.00
R3900:Rd3	UTSW	1	191985256	missense	probably damaging	1.00
R5870:Rd3	UTSW	1	191985300	missense	probably benign	0.00

Posted On

2013-03-25