Incidental Mutation 'IGL02577:Rrh'
ID 299233
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02577
Quality Score
Status
Chromosome 3
Chromosomal Location 129598057-129616236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129609372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 45 (V45G)
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: V45G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: V45G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000171313
AA Change: V45G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: V45G

DomainStartEndE-ValueType
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: ENSMUST00000196281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196317
Predicted Effect possibly damaging
Transcript: ENSMUST00000196902
AA Change: V45G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: V45G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000197535
AA Change: V38G

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000200079
SMART Domains Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Pfam:7tm_1 30 197 3.1e-22 PFAM
Coding Region Coverage
Validation Efficiency
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,667,696 (GRCm39) I40T probably benign Het
Adgrg3 C T 8: 95,766,555 (GRCm39) R409C probably damaging Het
Cpa5 G T 6: 30,626,807 (GRCm39) probably benign Het
Idi2l C A 13: 8,993,288 (GRCm39) Q68H probably damaging Het
Ippk G A 13: 49,615,134 (GRCm39) V506I possibly damaging Het
Lcn2 A G 2: 32,277,101 (GRCm39) Y158H probably damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mrgpra4 T A 7: 47,630,981 (GRCm39) T207S probably benign Het
Or1e30 T C 11: 73,677,872 (GRCm39) L36P probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Poln T A 5: 34,270,679 (GRCm39) M451L probably benign Het
Smg1 A T 7: 117,802,345 (GRCm39) M251K probably damaging Het
Tdrd6 T A 17: 43,937,728 (GRCm39) I1107F probably damaging Het
Tgm5 T C 2: 120,908,084 (GRCm39) I31V probably benign Het
Vps36 C T 8: 22,701,632 (GRCm39) Q240* probably null Het
Wdr6 C T 9: 108,453,140 (GRCm39) V248I possibly damaging Het
Zfp143 A G 7: 109,691,114 (GRCm39) E555G probably damaging Het
Other mutations in Rrh
AlleleSourceChrCoordTypePredicted EffectPPH 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
B6584:Rrh UTSW 3 129,605,391 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16