Mutagenetix > Incidental Mutation

Incidental Mutation 'B6584:Rrh'

629

Institutional Source

Beutler Lab

Gene Symbol

Rrh

Ensembl Gene

ENSMUSG00000028012

Gene Name

retinal pigment epithelium derived rhodopsin homolog

Synonyms

Peropsin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

B6584 (G3) of strain supermodel

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129598057-129616236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129605391 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Asparagine to Aspartic acid at position 239 (N239D)

Ref Sequence

ENSEMBL: ENSMUSP00000029648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029648] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]

AlphaFold

O35214

Predicted Effect

probably damaging
Transcript: ENSMUST00000029648
AA Change: N239D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: N239D

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171313
AA Change: N197D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: N197D

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	4.6e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196317

Predicted Effect

probably damaging
Transcript: ENSMUST00000196902
AA Change: N197D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: N197D

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197295

Predicted Effect

probably damaging
Transcript: ENSMUST00000197535
AA Change: E105G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000200079
AA Change: N100D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
AA Change: N100D

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7tm_1	30	197	3.1e-22	PFAM

Meta Mutation Damage Score

0.3138

Coding Region Coverage

1x: 85.5%
3x: 70.0%

Het Detection Efficiency

43.9%

Validation Efficiency

89% (133/150)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102H20Rik	C	T	17: 3,609,853 (GRCm39)		probably benign	Homo
Acadl	T	A	1: 66,887,632 (GRCm39)		probably benign	Het
Astn2	C	T	4: 65,910,624 (GRCm39)	V403M	probably damaging	Het
Clcc1	C	T	3: 108,580,229 (GRCm39)	T302I	probably damaging	Homo
Hormad1	T	A	3: 95,478,007 (GRCm39)		probably benign	Homo
Resf1	C	T	6: 149,230,844 (GRCm39)	H1297Y	probably damaging	Het
Rnf213	C	T	11: 119,316,895 (GRCm39)	T1007I	probably damaging	Het
Samd4	A	C	14: 47,253,794 (GRCm39)	H86P	probably damaging	Homo
Slc27a2	T	C	2: 126,403,562 (GRCm39)	L195P	possibly damaging	Het
Srek1ip1	T	C	13: 104,953,882 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,462 (GRCm39)		probably null	Homo
Zfp37	A	T	4: 62,109,615 (GRCm39)	V521E	probably damaging	Het

Other mutations in Rrh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Rrh	APN	3	129,616,074 (GRCm39)	missense	possibly damaging	0.53
IGL01368:Rrh	APN	3	129,602,618 (GRCm39)	missense	probably benign	0.02
IGL02206:Rrh	APN	3	129,605,346 (GRCm39)	missense	probably benign	0.40
IGL02577:Rrh	APN	3	129,609,372 (GRCm39)	missense	probably damaging	0.98
R1822:Rrh	UTSW	3	129,606,282 (GRCm39)	missense	probably damaging	0.99
R2114:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2115:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2116:Rrh	UTSW	3	129,604,336 (GRCm39)	missense	probably damaging	1.00
R2484:Rrh	UTSW	3	129,616,040 (GRCm39)	missense	probably damaging	1.00
R2913:Rrh	UTSW	3	129,609,258 (GRCm39)	missense	probably damaging	0.99
R3236:Rrh	UTSW	3	129,605,360 (GRCm39)	missense	probably damaging	1.00
R3237:Rrh	UTSW	3	129,605,360 (GRCm39)	missense	probably damaging	1.00
R5221:Rrh	UTSW	3	129,609,280 (GRCm39)	missense	probably damaging	0.99
R5270:Rrh	UTSW	3	129,606,998 (GRCm39)	missense	probably benign	0.05
R7036:Rrh	UTSW	3	129,609,342 (GRCm39)	missense	possibly damaging	0.54
R7334:Rrh	UTSW	3	129,602,631 (GRCm39)	missense	probably benign	0.00
R7339:Rrh	UTSW	3	129,604,262 (GRCm39)	missense	probably damaging	1.00
R7779:Rrh	UTSW	3	129,608,969 (GRCm39)	missense	probably benign	0.02
R9152:Rrh	UTSW	3	129,606,903 (GRCm39)	missense	probably benign	0.05
R9798:Rrh	UTSW	3	129,605,421 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 738 of the Rrh transcript in exon 6 of 8 total exons using Ensembl record ENSMUST00000078035. Multiple transcripts of the Rrh gene are displayed on Ensembl. The mutated nucleotide causes an asparagine to aspartic acid substitution at amino acid 239 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Rrh gene encodes a 379 amino acid seven transmembrane G-protein coupled receptor that plays a role in retinal pigment epithelial (RPE) physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds.The protein is localized to the microvilli that surround the photoreceptor outer segments (Uniprot O35214).

Posted On

2011-04-12