Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Rho'

592366

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

045744-MU

Accession Numbers

Essential gene?

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

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115908709-115916997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115909294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 110 (C110F)

Ref Sequence

ENSEMBL: ENSMUSP00000032471 (fasta)

Gene Model

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

AlphaFold

P15409

Predicted Effect

probably damaging
Transcript: ENSMUST00000032471
AA Change: C110F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
AA Change: C110F

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

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,123 (GRCm39)	I607F	probably damaging	Het
Abcc4	A	T	14: 118,848,899 (GRCm39)	D559E	probably damaging	Het
Abl1	T	C	2: 31,579,841 (GRCm39)	V8A	possibly damaging	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Asb3	T	A	11: 31,031,435 (GRCm39)	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,192,166 (GRCm39)	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581 (GRCm38)	E1258D	probably damaging	Het
Carmil2	A	T	8: 106,423,918 (GRCm39)	Q1257L	possibly damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,911,491 (GRCm39)	A781E	probably benign	Het
Ccr10	A	T	11: 101,065,475 (GRCm39)	D18E	probably benign	Het
Cdcp1	C	A	9: 123,045,071 (GRCm39)		probably benign	Het
Ces5a	C	A	8: 94,240,897 (GRCm39)	R400L	probably damaging	Het
Clcn6	C	T	4: 148,097,151 (GRCm39)	V636M	probably damaging	Het
Cluh	T	A	11: 74,558,546 (GRCm39)	L1206H	probably damaging	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dok4	T	C	8: 95,593,190 (GRCm39)	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Egr3	G	A	14: 70,315,526 (GRCm39)		probably null	Het
Elapor1	T	G	3: 108,370,307 (GRCm39)	R698S	probably damaging	Het
Elp1	T	C	4: 56,792,075 (GRCm39)	Q231R	probably damaging	Het
Evpl	T	C	11: 116,113,394 (GRCm39)	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,263,036 (GRCm39)	C214*	probably null	Het
Gm45861	A	C	8: 28,030,147 (GRCm39)	Y821S	unknown	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Kif14	C	T	1: 136,396,558 (GRCm39)	T288I	probably damaging	Het
Kpna3	A	T	14: 61,605,086 (GRCm39)	N520K	probably benign	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,542,921 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,438,751 (GRCm39)	M70L	probably benign	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nipbl	C	T	15: 8,322,585 (GRCm39)	V2609I	probably benign	Het
Nucks1	C	A	1: 131,858,844 (GRCm39)	T202N	probably benign	Het
Or10al3	A	G	17: 38,011,573 (GRCm39)	N4S	probably benign	Het
Or4c127	A	T	2: 89,833,389 (GRCm39)	Y213F	probably damaging	Het
Or4e2	A	G	14: 52,687,899 (GRCm39)	T10A	probably benign	Het
Or5m12	A	C	2: 85,734,880 (GRCm39)	F173V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,547,314 (GRCm39)	S257P	probably damaging	Het
Pnlip	G	C	19: 58,663,586 (GRCm39)	G187A	possibly damaging	Het
Pramel22	T	A	4: 143,382,175 (GRCm39)	K174*	probably null	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Srp72	A	T	5: 77,122,673 (GRCm39)	N35Y	probably damaging	Het
Tm2d2	C	A	8: 25,508,280 (GRCm39)	Y141*	probably null	Het
Tor3a	G	A	1: 156,483,478 (GRCm39)	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r26	T	C	6: 124,016,321 (GRCm39)	W262R	probably benign	Het
Yipf7	A	T	5: 69,676,572 (GRCm39)	V189D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 123,110,295 (GRCm39)		probably null	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	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
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'- ATGGCAGTTCTCCATGCTGG -3'
(R):5'- CAGTGTTTGCCAATGAATAAGCTGG -3'

Sequencing Primer
(F):5'- TGGCAGCGTACATGTTCC -3'
(R):5'- CCAATGAATAAGCTGGGCCTTTAG -3'

Posted On

2019-11-12