Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Rho'

301055

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rho

Ensembl Gene

ENSMUSG00000030324

Gene Name

rhodopsin

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

115931748-115940036 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115935197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 207 (M207L)

Ref Sequence

ENSEMBL: ENSMUSP00000032471 (fasta)

Gene Model

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

AlphaFold

P15409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032471
AA Change: M207L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
AA Change: M207L

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

noncoding transcript
Transcript: ENSMUST00000203284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203531

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203877
AA Change: M48L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324
AA Change: M48L

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

noncoding transcript
Transcript: ENSMUST00000203894

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

possibly damaging
Transcript: ENSMUST00000204711
AA Change: M65L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324
AA Change: M65L

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

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kat14	G	A	2: 144,402,445	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Map4	T	C	9: 110,064,417	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,961,794	E529G	probably benign	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,095,517	K133E	possibly damaging	Het
Usp40	A	G	1: 87,950,017	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		probably benign	Het

Other mutations in Rho

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02432:Rho	APN	6	115932185	missense	probably damaging	0.99
IGL02480:Rho	APN	6	115935544	missense	probably benign	0.20
bemr3	UTSW	6	115935131	missense	probably damaging	1.00
R0165:Rho	UTSW	6	115932227	missense	probably damaging	1.00
R1167:Rho	UTSW	6	115935423	missense	probably damaging	0.98
R1169:Rho	UTSW	6	115932238	missense	probably damaging	1.00
R1312:Rho	UTSW	6	115935605	missense	probably damaging	1.00
R2393:Rho	UTSW	6	115935391	splice site	probably benign
R3895:Rho	UTSW	6	115933902	missense	probably damaging	1.00
R4414:Rho	UTSW	6	115935230	missense	probably benign
R4416:Rho	UTSW	6	115935230	missense	probably benign
R5753:Rho	UTSW	6	115935487	missense	probably damaging	1.00
R6483:Rho	UTSW	6	115932257	missense	possibly damaging	0.78
R6552:Rho	UTSW	6	115931748	splice site	probably null
R6719:Rho	UTSW	6	115933893	missense	possibly damaging	0.58
R7030:Rho	UTSW	6	115935543	missense	possibly damaging	0.93
R7354:Rho	UTSW	6	115935503	nonsense	probably null
R7566:Rho	UTSW	6	115932174	missense	probably damaging	1.00
R7674:Rho	UTSW	6	115932333	missense	probably damaging	1.00
R7699:Rho	UTSW	6	115935239	missense	probably damaging	0.98
R7700:Rho	UTSW	6	115935239	missense	probably damaging	0.98
R8477:Rho	UTSW	6	115935385	splice site	probably null
R8745:Rho	UTSW	6	115935522	missense	probably damaging	1.00
R9783:Rho	UTSW	6	115933959	missense	probably benign	0.01

Posted On

2015-04-16