Incidental Mutation 'IGL01317:Rrh'
ID73888
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: 0.135) question?
Stock #IGL01317
Quality Score
Status
Chromosome3
Chromosomal Location129804408-129822587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 129822425 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 20 (F20V)
Ref Sequence ENSEMBL: ENSMUSP00000029648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029643] [ENSMUST00000029648] [ENSMUST00000134174] [ENSMUST00000149071] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]
Predicted Effect probably benign
Transcript: ENSMUST00000029643
SMART Domains Protein: ENSMUSP00000029643
Gene: ENSMUSG00000028010

DomainStartEndE-ValueType
Pfam:Gar1 63 180 2.6e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000029648
AA Change: F20V

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012
AA Change: F20V

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: ENSMUST00000127864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128441
Predicted Effect probably benign
Transcript: ENSMUST00000134174
SMART Domains Protein: ENSMUSP00000115191
Gene: ENSMUSG00000028010

DomainStartEndE-ValueType
Pfam:Gar1 1 79 2.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143545
Predicted Effect probably benign
Transcript: ENSMUST00000149071
SMART Domains Protein: ENSMUSP00000118752
Gene: ENSMUSG00000028010

DomainStartEndE-ValueType
Pfam:Gar1 57 198 1.6e-44 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000171313
AA Change: F20V
SMART Domains Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012
AA Change: F20V

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 unknown
Transcript: ENSMUST00000196902
AA Change: F20V
SMART Domains Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012
AA Change: F20V

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: F13V
Predicted Effect unknown
Transcript: ENSMUST00000200079
AA Change: F20V
SMART Domains Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012
AA Change: F20V

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 I352V probably benign Het
Apeh A T 9: 108,086,207 S605R probably benign Het
Arhgap32 A G 9: 32,256,964 K748E probably benign Het
Avpr1a T C 10: 122,449,567 S255P probably benign Het
Cadps2 T A 6: 23,314,173 D1124V possibly damaging Het
Cask C T X: 13,522,260 E83K probably damaging Het
Ccdc129 G T 6: 55,967,805 A504S possibly damaging Het
Cep170b A G 12: 112,737,644 Y670C probably damaging Het
Chd3 A G 11: 69,353,211 Y1343H probably damaging Het
Cit T A 5: 115,908,716 V396D probably benign Het
Cldn18 T C 9: 99,696,082 T203A probably benign Het
Dido1 A C 2: 180,671,757 N907K probably benign Het
Dmbt1 T A 7: 131,041,191 D246E probably damaging Het
Dph1 T C 11: 75,180,660 H303R probably benign Het
Dspp T A 5: 104,174,048 Y8N probably damaging Het
Efhc2 C T X: 17,204,959 probably benign Het
Fam160a1 T C 3: 85,672,846 D684G probably benign Het
Fam171a1 T A 2: 3,202,626 V215E probably damaging Het
Foxm1 T A 6: 128,367,353 M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 probably benign Het
Heatr1 T A 13: 12,399,027 W162R probably damaging Het
Hydin A T 8: 110,326,446 D250V probably damaging Het
Itga4 T A 2: 79,322,661 C897* probably null Het
Kcnd2 T C 6: 21,727,340 *631Q probably null Het
Kcnn2 A G 18: 45,560,627 probably null Het
Lama1 A T 17: 67,818,701 E2951V probably damaging Het
Lyst A G 13: 13,670,870 Q1944R probably benign Het
Mmp14 A G 14: 54,435,790 T52A possibly damaging Het
Mrgpra1 A T 7: 47,335,624 N102K probably benign Het
Mrpl28 G A 17: 26,125,515 G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 probably benign Het
Olfr1308 T A 2: 111,960,275 H266L possibly damaging Het
Oog2 A G 4: 144,195,267 N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 V882E possibly damaging Het
Qser1 A C 2: 104,786,979 Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 D480E probably damaging Het
Rfx7 G A 9: 72,618,536 G1003S probably damaging Het
Rwdd3 A G 3: 121,171,633 I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 L32F probably benign Het
Slc29a4 A G 5: 142,705,530 D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 Y223F probably benign Het
Tbx20 A G 9: 24,769,755 V147A probably damaging Het
Tmem63c A T 12: 87,071,996 probably benign Het
Tmtc2 C A 10: 105,413,785 R29L probably damaging Het
Ttc21b T A 2: 66,188,356 M1236L probably benign Het
Unc119 T A 11: 78,347,226 C12S probably damaging Het
Vcan A G 13: 89,691,668 M1919T probably benign Het
Zmat4 C A 8: 23,902,169 T47K probably benign Het
Other mutations in Rrh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Rrh APN 3 129808969 missense probably benign 0.02
IGL02206:Rrh APN 3 129811697 missense probably benign 0.40
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
R7334:Rrh UTSW 3 129808982 missense probably benign 0.00
R7339:Rrh UTSW 3 129810613 missense probably damaging 1.00
Posted On2013-10-07