Incidental Mutation 'IGL02206:Rrh'
ID284494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrh
Ensembl Gene ENSMUSG00000028012
Gene Nameretinal pigment epithelium derived rhodopsin homolog
SynonymsPeropsin
Accession Numbers

Genbank: NM_009102.3; Ensembl: ENSMUST00000029648, ENSMUST00000078035 ,ENSMUST00000090295, ENSMUST00000171313

Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02206
Quality Score
Status
Chromosome3
Chromosomal Location129804408-129822587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129811697 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 115 (V115I)
Ref Sequence ENSEMBL: ENSMUSP00000143054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029648] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]
Predicted Effect probably benign
Transcript: ENSMUST00000029648
AA Change: V254I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: V254I

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 probably benign
Transcript: ENSMUST00000171313
AA Change: V212I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: V212I

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: ENSMUST00000196317
Predicted Effect probably benign
Transcript: ENSMUST00000196902
AA Change: V212I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: V212I

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 unknown
Transcript: ENSMUST00000197535
AA Change: R120H
Predicted Effect probably benign
Transcript: ENSMUST00000200079
AA Change: V115I

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
AA Change: V115I

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably damaging Het
Other mutations in Rrh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Rrh APN 3 129822425 missense possibly damaging 0.53
IGL01368:Rrh APN 3 129808969 missense probably benign 0.02
IGL02577:Rrh APN 3 129815723 missense probably damaging 0.98
B6584:Rrh UTSW 3 129811742 missense probably damaging 1.00
R1822:Rrh UTSW 3 129812633 missense probably damaging 0.99
R2114:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2115:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2116:Rrh UTSW 3 129810687 missense probably damaging 1.00
R2484:Rrh UTSW 3 129822391 missense probably damaging 1.00
R2913:Rrh UTSW 3 129815609 missense probably damaging 0.99
R3236:Rrh UTSW 3 129811711 missense probably damaging 1.00
R3237:Rrh UTSW 3 129811711 missense probably damaging 1.00
R5221:Rrh UTSW 3 129815631 missense probably damaging 0.99
R5270:Rrh UTSW 3 129813349 missense probably benign 0.05
R7036:Rrh UTSW 3 129815693 missense possibly damaging 0.54
Posted On2015-04-16