Incidental Mutation 'IGL00840:Rpgr'
| ID |
13859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpgr
|
| Ensembl Gene |
ENSMUSG00000031174 |
| Gene Name |
retinitis pigmentosa GTPase regulator |
| Synonyms |
Rp3h, Rd9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00840
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
10024455-10083034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10074948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000155734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143532
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
| Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
| F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
| Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
| Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
| Other mutations in Rpgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02394:Rpgr
|
APN |
X |
10,032,456 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02401:Rpgr
|
APN |
X |
10,024,956 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3434:Rpgr
|
UTSW |
X |
10,042,841 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4598:Rpgr
|
UTSW |
X |
10,062,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5732:Rpgr
|
UTSW |
X |
10,032,511 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5734:Rpgr
|
UTSW |
X |
10,032,511 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Rpgr
|
UTSW |
X |
10,024,943 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Posted On |
2012-12-06 |
Incidental Mutation