Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Rho'

668183

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

067921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115908709-115916997 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 115912346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144768 (fasta)

Gene Model

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

AlphaFold

P15409

Predicted Effect

probably null
Transcript: ENSMUST00000032471

SMART Domains

Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324

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

SMART Domains

Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324

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

SMART Domains

Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	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
R7354:Rho	UTSW	6	115,912,464 (GRCm39)	nonsense	probably null
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
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'- CATCTACATGTTCGTGGTCCAC -3'
(R):5'- GCTCTTAGCAAAGAAAGCTGGC -3'

Sequencing Primer
(F):5'- ACATGTTCGTGGTCCACTTCAC -3'
(R):5'- CTTAGCAAAGAAAGCTGGCAGAGTC -3'

Posted On

2021-03-24