Incidental Mutation 'IGL00840:Rpgr'
ID13859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpgr
Ensembl Gene ENSMUSG00000031174
Gene Nameretinitis pigmentosa GTPase regulator
SynonymsRp3h
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00840
Quality Score
Status
ChromosomeX
Chromosomal Location10073621-10216920 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10208709 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 233 (I233V)
Ref Sequence ENSEMBL: ENSMUSP00000037358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044598] [ENSMUST00000072393] [ENSMUST00000073392] [ENSMUST00000115532] [ENSMUST00000115533] [ENSMUST00000115534]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044598
AA Change: I233V

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037358
Gene: ENSMUSG00000031174
AA Change: I233V

DomainStartEndE-ValueType
Pfam:RCC1 91 140 2.4e-12 PFAM
Pfam:RCC1 143 193 2.1e-7 PFAM
Pfam:RCC1_2 180 209 4.5e-11 PFAM
Pfam:RCC1 196 243 2.2e-12 PFAM
Pfam:RCC1 246 296 6.3e-13 PFAM
Pfam:RCC1 300 348 9.9e-13 PFAM
Pfam:RCC1 352 402 2.5e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
low complexity region 820 829 N/A INTRINSIC
low complexity region 879 897 N/A INTRINSIC
low complexity region 913 924 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072393
AA Change: I233V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072229
Gene: ENSMUSG00000031174
AA Change: I233V

DomainStartEndE-ValueType
Pfam:RCC1_2 76 104 3e-8 PFAM
Pfam:RCC1 91 140 3.1e-13 PFAM
Pfam:RCC1 143 193 7.5e-9 PFAM
Pfam:RCC1_2 180 209 1.5e-11 PFAM
Pfam:RCC1 196 243 2.6e-13 PFAM
Pfam:RCC1 246 296 4.4e-13 PFAM
Pfam:RCC1 300 348 1.7e-12 PFAM
Pfam:RCC1 352 402 1.3e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 586 604 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000073392
AA Change: I233V

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073106
Gene: ENSMUSG00000031174
AA Change: I233V

DomainStartEndE-ValueType
Pfam:RCC1_2 76 104 3.3e-8 PFAM
Pfam:RCC1 91 140 3.5e-13 PFAM
Pfam:RCC1 143 193 8.4e-9 PFAM
Pfam:RCC1_2 180 209 1.7e-11 PFAM
Pfam:RCC1 196 243 3e-13 PFAM
Pfam:RCC1 246 296 4.9e-13 PFAM
Pfam:RCC1 300 348 1.9e-12 PFAM
Pfam:RCC1 352 402 1.5e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 586 604 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115532
AA Change: I233V

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111194
Gene: ENSMUSG00000031174
AA Change: I233V

DomainStartEndE-ValueType
Pfam:RCC1_2 76 104 1.1e-7 PFAM
Pfam:RCC1 91 140 1.3e-12 PFAM
Pfam:RCC1 143 193 3.1e-8 PFAM
Pfam:RCC1_2 180 209 5.5e-11 PFAM
Pfam:RCC1 196 243 1.1e-12 PFAM
Pfam:RCC1 246 296 1.8e-12 PFAM
Pfam:RCC1 300 348 6.8e-12 PFAM
Pfam:RCC1 352 402 5.4e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
low complexity region 820 829 N/A INTRINSIC
low complexity region 879 897 N/A INTRINSIC
low complexity region 913 924 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115533
AA Change: I233V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111195
Gene: ENSMUSG00000031174
AA Change: I233V

DomainStartEndE-ValueType
Pfam:RCC1_2 76 104 7.1e-8 PFAM
Pfam:RCC1 91 140 8.4e-13 PFAM
Pfam:RCC1 143 193 2e-8 PFAM
Pfam:RCC1_2 180 209 3.7e-11 PFAM
Pfam:RCC1 196 243 7.1e-13 PFAM
Pfam:RCC1 246 296 1.2e-12 PFAM
Pfam:RCC1 300 348 4.4e-12 PFAM
Pfam:RCC1 352 402 3.5e-9 PFAM
low complexity region 433 460 N/A INTRINSIC
low complexity region 586 604 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115534
AA Change: I138V

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111196
Gene: ENSMUSG00000031174
AA Change: I138V

DomainStartEndE-ValueType
Pfam:RCC1 1 45 9.6e-11 PFAM
Pfam:RCC1 48 98 3.2e-8 PFAM
Pfam:RCC1_2 85 114 6.1e-11 PFAM
Pfam:RCC1 101 148 1.1e-12 PFAM
Pfam:RCC1 151 201 1.9e-12 PFAM
Pfam:RCC1 205 253 7.1e-12 PFAM
Pfam:RCC1 257 307 5.6e-9 PFAM
low complexity region 338 365 N/A INTRINSIC
low complexity region 491 509 N/A INTRINSIC
low complexity region 525 536 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155734
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Akr1b10 T C 6: 34,394,106 S264P possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Gm4763 A T 7: 24,723,506 L129H probably damaging Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Knop1 A G 7: 118,852,798 Y233H probably damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Rgs20 C T 1: 5,070,015 V55I probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Slc25a31 T C 3: 40,724,877 S258P probably benign Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Rpgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02394:Rpgr APN X 10166217 missense probably benign 0.30
IGL02401:Rpgr APN X 10158717 missense possibly damaging 0.78
R3434:Rpgr UTSW X 10176602 missense probably benign 0.05
R4598:Rpgr UTSW X 10196016 missense probably benign 0.00
R5732:Rpgr UTSW X 10166272 missense probably benign 0.12
R5734:Rpgr UTSW X 10166272 missense probably benign 0.12
Posted On2012-12-06