Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Rho'

570800

Institutional Source

Beutler Lab

Gene Symbol

Rho

Ensembl Gene

ENSMUSG00000030324

Gene Name

rhodopsin

Synonyms

opsin 2, Noerg1, Rod Opsin, Long Wavelength Sensitive opsin, LWS opsin, L opsin, Red Opsin, Ops, RP4, Opn2

MMRRC Submission

045440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115908709-115916997 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 115912464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 268 (Y268*)

Ref Sequence

ENSEMBL: ENSMUSP00000032471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032471] [ENSMUST00000203877] [ENSMUST00000204493] [ENSMUST00000204711]

AlphaFold

P15409

Predicted Effect

probably null
Transcript: ENSMUST00000032471
AA Change: Y268*

SMART Domains

Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
AA Change: Y268*

Domain	Start	End	E-Value	Type
Pfam:Rhodopsin_N	2	37	1e-23	PFAM
Pfam:7TM_GPCR_Srv	40	323	1.2e-12	PFAM
Pfam:7TM_GPCR_Srw	42	324	7.9e-12	PFAM
Pfam:7TM_GPCR_Srsx	48	321	4.9e-11	PFAM
Pfam:7tm_1	54	306	5.1e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000203877
AA Change: Y109*

SMART Domains

Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324
AA Change: Y109*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	6	147	1.6e-17	PFAM
Pfam:7TM_GPCR_Srw	19	165	1.2e-8	PFAM
Pfam:7TM_GPCR_Srsx	25	162	1.2e-4	PFAM
Pfam:7TM_GPCR_Srv	29	164	7.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204493

SMART Domains

Protein: ENSMUSP00000145464
Gene: ENSMUSG00000030324

Domain	Start	End	E-Value	Type
low complexity region	20	41	N/A	INTRINSIC
low complexity region	48	54	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000204711
AA Change: Y126*

SMART Domains

Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324
AA Change: Y126*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	164	4.1e-24	PFAM
Pfam:7TM_GPCR_Srw	11	182	5.4e-9	PFAM
Pfam:7TM_GPCR_Srv	13	181	1.6e-7	PFAM

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null homozygotes fail to develop retinal rod outer segments and lose their photoreceptors while heterozygotes exhibit some disorganization of their photoreceptors and a shortening of the outer segments with age. Some point mutants have only light-induced photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	A	4: 126,311,099 (GRCm39)	Q38L	possibly damaging	Het
Apon	T	A	10: 128,090,607 (GRCm39)	I95N	probably benign	Het
Arid1a	G	T	4: 133,421,258 (GRCm39)	P464Q	unknown	Het
Arid4b	A	G	13: 14,339,455 (GRCm39)	D503G	probably benign	Het
Asxl2	T	C	12: 3,505,637 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,048,028 (GRCm39)	V594D	probably damaging	Het
Begain	A	G	12: 108,999,215 (GRCm39)	F519L	possibly damaging	Het
Bora	A	G	14: 99,284,794 (GRCm39)	T15A	probably damaging	Het
Btbd7	A	T	12: 102,804,464 (GRCm39)	M192K	probably benign	Het
Ccdc125	T	G	13: 100,814,382 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,858,458 (GRCm39)	C1042Y	possibly damaging	Het
Cdcp3	G	T	7: 130,873,762 (GRCm39)	C1696F	unknown	Het
Cfap74	G	T	4: 155,549,804 (GRCm39)	V146L	unknown	Het
Crisp1	G	A	17: 40,630,071 (GRCm39)		probably benign	Het
Ctbp1	A	T	5: 33,407,732 (GRCm39)	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,300,750 (GRCm39)	M34K	probably benign	Het
Dnajc27	A	G	12: 4,146,249 (GRCm39)	I93V	probably benign	Het
Dqx1	T	A	6: 83,037,957 (GRCm39)	Y448*	probably null	Het
Dynap	A	T	18: 70,374,371 (GRCm39)	C52S	possibly damaging	Het
Ehd4	C	A	2: 119,932,613 (GRCm39)	R271L	probably damaging	Het
Ercc2	T	G	7: 19,127,579 (GRCm39)	I619S	possibly damaging	Het
Etf1	A	G	18: 35,039,040 (GRCm39)	I409T	probably damaging	Het
Fam117a	A	G	11: 95,271,529 (GRCm39)	D367G	probably damaging	Het
Fancd2	A	G	6: 113,572,907 (GRCm39)	D1447G	unknown	Het
Fbxw9	T	C	8: 85,788,825 (GRCm39)	S192P	probably damaging	Het
Frzb	A	T	2: 80,277,153 (GRCm39)	L11Q	probably damaging	Het
Gm14496	T	C	2: 181,642,479 (GRCm39)	S717P	probably damaging	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gm4353	C	T	7: 115,683,146 (GRCm39)	R145Q	probably benign	Het
Gpr12	A	T	5: 146,520,772 (GRCm39)	V50D	probably damaging	Het
Hes1	T	C	16: 29,884,746 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,682,196 (GRCm39)	C451*	probably null	Het
Iars1	T	C	13: 49,857,796 (GRCm39)	V347A	probably benign	Het
Igfn1	A	G	1: 135,903,770 (GRCm39)	S323P	possibly damaging	Het
Itga6	G	A	2: 71,650,574 (GRCm39)	A207T	probably damaging	Het
Lgi4	T	A	7: 30,760,047 (GRCm39)	L81H	probably damaging	Het
Lrp1	T	C	10: 127,407,277 (GRCm39)	E1888G	probably damaging	Het
Man2a1	C	T	17: 65,059,539 (GRCm39)	T1142M	probably damaging	Het
Mdfic2	T	A	6: 98,215,242 (GRCm39)	D127V	probably damaging	Het
Mgam	A	T	6: 40,721,732 (GRCm39)	Y350F	probably damaging	Het
Miga1	T	C	3: 151,996,137 (GRCm39)	D351G	probably damaging	Het
Mro	A	G	18: 74,006,385 (GRCm39)	T111A	probably benign	Het
Mtrr	A	T	13: 68,714,326 (GRCm39)	V471E	probably damaging	Het
Myh3	C	A	11: 66,987,708 (GRCm39)	L1394I	probably damaging	Het
Myocd	A	G	11: 65,078,319 (GRCm39)	V492A	probably benign	Het
Nbeal2	A	G	9: 110,458,247 (GRCm39)	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,072,376 (GRCm39)	M489K	possibly damaging	Het
Or12j5	A	C	7: 140,084,099 (GRCm39)	I91R	probably damaging	Het
Or14j7	A	G	17: 38,235,284 (GRCm39)	I276V	probably benign	Het
Or1e1c	A	T	11: 73,266,201 (GRCm39)	I212F	probably benign	Het
Or4c122	T	C	2: 89,079,031 (GRCm39)		probably null	Het
Or4k44	C	T	2: 111,367,909 (GRCm39)	A242T	possibly damaging	Het
Orc2	A	G	1: 58,508,906 (GRCm39)	S462P	possibly damaging	Het
Pcdh9	T	C	14: 94,125,706 (GRCm39)	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,611,177 (GRCm39)	V46I	possibly damaging	Het
Pcdhb22	A	G	18: 37,653,311 (GRCm39)	D336G	probably damaging	Het
Pde4dip	T	A	3: 97,626,646 (GRCm39)	R1297S	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Plxnb2	A	G	15: 89,049,928 (GRCm39)	M531T	possibly damaging	Het
Poc5	T	C	13: 96,531,033 (GRCm39)	V77A	probably benign	Het
Recql5	G	A	11: 115,819,027 (GRCm39)	R180C	probably damaging	Het
Riok1	A	T	13: 38,231,288 (GRCm39)	H182L	probably benign	Het
Rnf207	T	C	4: 152,398,548 (GRCm39)	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,305,263 (GRCm39)	Y213C	probably benign	Het
Slc16a10	T	C	10: 39,952,951 (GRCm39)	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,771,897 (GRCm39)	H401Y	probably benign	Het
Slc5a5	C	A	8: 71,342,247 (GRCm39)	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,316,051 (GRCm39)	F576S	possibly damaging	Het
Slx4	T	C	16: 3,804,963 (GRCm39)	E617G	probably benign	Het
Spata31d1e	A	T	13: 59,889,648 (GRCm39)	L724*	probably null	Het
Top1	T	C	2: 160,546,878 (GRCm39)	I386T	probably damaging	Het
Tor1aip1	G	T	1: 155,911,859 (GRCm39)	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,766,371 (GRCm39)	R479Q	probably benign	Het
Unc79	C	T	12: 103,108,961 (GRCm39)	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,043 (GRCm39)	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,192,464 (GRCm39)	M14L	probably benign	Het
Zc3h7a	C	T	16: 10,966,378 (GRCm39)	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,840,122 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,955,478 (GRCm39)	W314R	probably damaging	Het

Other mutations in Rho

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02432:Rho	APN	6	115,909,146 (GRCm39)	missense	probably damaging	0.99
IGL02480:Rho	APN	6	115,912,505 (GRCm39)	missense	probably benign	0.20
IGL02625:Rho	APN	6	115,912,158 (GRCm39)	missense	possibly damaging	0.95
bemr3	UTSW	6	115,912,092 (GRCm39)	missense	probably damaging	1.00
R0165:Rho	UTSW	6	115,909,188 (GRCm39)	missense	probably damaging	1.00
R1167:Rho	UTSW	6	115,912,384 (GRCm39)	missense	probably damaging	0.98
R1169:Rho	UTSW	6	115,909,199 (GRCm39)	missense	probably damaging	1.00
R1312:Rho	UTSW	6	115,912,566 (GRCm39)	missense	probably damaging	1.00
R2393:Rho	UTSW	6	115,912,352 (GRCm39)	splice site	probably benign
R3895:Rho	UTSW	6	115,910,863 (GRCm39)	missense	probably damaging	1.00
R4414:Rho	UTSW	6	115,912,191 (GRCm39)	missense	probably benign
R4416:Rho	UTSW	6	115,912,191 (GRCm39)	missense	probably benign
R5753:Rho	UTSW	6	115,912,448 (GRCm39)	missense	probably damaging	1.00
R6483:Rho	UTSW	6	115,909,218 (GRCm39)	missense	possibly damaging	0.78
R6552:Rho	UTSW	6	115,908,709 (GRCm39)	splice site	probably null
R6719:Rho	UTSW	6	115,910,854 (GRCm39)	missense	possibly damaging	0.58
R7030:Rho	UTSW	6	115,912,504 (GRCm39)	missense	possibly damaging	0.93
R7566:Rho	UTSW	6	115,909,135 (GRCm39)	missense	probably damaging	1.00
R7674:Rho	UTSW	6	115,909,294 (GRCm39)	missense	probably damaging	1.00
R7699:Rho	UTSW	6	115,912,200 (GRCm39)	missense	probably damaging	0.98
R7700:Rho	UTSW	6	115,912,200 (GRCm39)	missense	probably damaging	0.98
R8477:Rho	UTSW	6	115,912,346 (GRCm39)	splice site	probably null
R8745:Rho	UTSW	6	115,912,483 (GRCm39)	missense	probably damaging	1.00
R9783:Rho	UTSW	6	115,910,920 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATCGTCATCTTCTTCTGCTATGGG -3'
(R):5'- CCAGCAGTCTGAGTGCAATG -3'

Sequencing Primer
(F):5'- AGCTGGTCTTCACAGTCAAG -3'
(R):5'- AGTCTGAGTGCAATGCCTCC -3'

Posted On

2019-09-13