Incidental Mutation 'R4407:Rpgrip1'
ID |
327729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1
|
Ensembl Gene |
ENSMUSG00000057132 |
Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
MMRRC Submission |
041689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R4407 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52384856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 655
(F655I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181401]
[ENSMUST00000181017]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111600
AA Change: F655I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107227 Gene: ENSMUSG00000057132 AA Change: F655I
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
542 |
N/A |
INTRINSIC |
C2
|
602 |
707 |
1.08e-2 |
SMART |
coiled coil region
|
746 |
795 |
N/A |
INTRINSIC |
Blast:C2
|
958 |
1086 |
1e-37 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000111603
AA Change: F817I
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132 AA Change: F817I
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
543 |
N/A |
INTRINSIC |
Pfam:C2-C2_1
|
582 |
721 |
1.9e-49 |
PFAM |
C2
|
764 |
869 |
7.3e-5 |
SMART |
coiled coil region
|
910 |
999 |
N/A |
INTRINSIC |
Blast:C2
|
1162 |
1290 |
2e-37 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180646
|
SMART Domains |
Protein: ENSMUSP00000137751 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180901
|
SMART Domains |
Protein: ENSMUSP00000137826 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
coiled coil region
|
179 |
223 |
N/A |
INTRINSIC |
coiled coil region
|
274 |
363 |
N/A |
INTRINSIC |
Blast:C2
|
526 |
654 |
2e-38 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000181401
AA Change: F806I
|
SMART Domains |
Protein: ENSMUSP00000138027 Gene: ENSMUSG00000057132 AA Change: F806I
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
547 |
N/A |
INTRINSIC |
Pfam:DUF3250
|
605 |
710 |
2.8e-46 |
PFAM |
C2
|
753 |
858 |
1.08e-2 |
SMART |
coiled coil region
|
899 |
988 |
N/A |
INTRINSIC |
Blast:C2
|
1151 |
1279 |
1e-37 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181297
|
SMART Domains |
Protein: ENSMUSP00000137653 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
coiled coil region
|
180 |
224 |
N/A |
INTRINSIC |
low complexity region
|
257 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181208
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181627
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181017
|
SMART Domains |
Protein: ENSMUSP00000137900 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
Meta Mutation Damage Score |
0.5076 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830035A12Rik |
T |
C |
11: 107,422,881 (GRCm39) |
|
noncoding transcript |
Het |
Bbs10 |
A |
G |
10: 111,135,720 (GRCm39) |
T278A |
probably benign |
Het |
Bcl6b |
A |
G |
11: 70,116,929 (GRCm39) |
L450P |
probably damaging |
Het |
Braf |
T |
G |
6: 39,592,654 (GRCm39) |
K674Q |
probably damaging |
Het |
Cep112 |
C |
T |
11: 108,410,027 (GRCm39) |
T481I |
possibly damaging |
Het |
Cep135 |
T |
A |
5: 76,772,514 (GRCm39) |
M633K |
probably benign |
Het |
Cpped1 |
T |
C |
16: 11,623,285 (GRCm39) |
Y278C |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,061,878 (GRCm39) |
|
probably null |
Het |
Dolpp1 |
C |
T |
2: 30,286,464 (GRCm39) |
A128V |
possibly damaging |
Het |
E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,012,689 (GRCm39) |
D2328V |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
Fkbp3 |
T |
C |
12: 65,116,778 (GRCm39) |
T53A |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,122,176 (GRCm39) |
G1449C |
unknown |
Het |
G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Glyctk |
A |
T |
9: 106,034,307 (GRCm39) |
|
probably benign |
Het |
Gm6430 |
T |
C |
1: 96,953,297 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
C |
A |
2: 38,909,653 (GRCm39) |
|
probably null |
Het |
Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,189,782 (GRCm39) |
V494A |
unknown |
Het |
Lama2 |
AATCAGACAGGAG |
A |
10: 27,088,124 (GRCm39) |
|
probably benign |
Het |
Lemd3 |
A |
T |
10: 120,761,335 (GRCm39) |
L907Q |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,332,861 (GRCm39) |
V1552D |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,524,664 (GRCm39) |
D665E |
probably damaging |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Or4p7 |
A |
T |
2: 88,222,427 (GRCm39) |
M279L |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,277,499 (GRCm39) |
V160L |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,210,704 (GRCm39) |
E2473G |
possibly damaging |
Het |
Pitpnm2 |
T |
A |
5: 124,290,678 (GRCm39) |
I3L |
possibly damaging |
Het |
Prkd3 |
C |
A |
17: 79,290,987 (GRCm39) |
W176L |
probably damaging |
Het |
Prpf39 |
C |
T |
12: 65,103,040 (GRCm39) |
A438V |
probably damaging |
Het |
Rrp12 |
T |
C |
19: 41,880,990 (GRCm39) |
Y147C |
probably damaging |
Het |
Sec23b |
A |
T |
2: 144,416,638 (GRCm39) |
N429Y |
possibly damaging |
Het |
Slc2a10 |
T |
A |
2: 165,356,684 (GRCm39) |
S115T |
probably damaging |
Het |
Spg11 |
A |
C |
2: 121,905,813 (GRCm39) |
D1277E |
probably benign |
Het |
Sspo |
A |
G |
6: 48,437,454 (GRCm39) |
D1279G |
probably damaging |
Het |
St18 |
T |
C |
1: 6,898,061 (GRCm39) |
I621T |
probably benign |
Het |
Tbc1d31 |
T |
A |
15: 57,783,438 (GRCm39) |
D112E |
possibly damaging |
Het |
Tdpoz6 |
C |
A |
3: 93,599,419 (GRCm39) |
V317L |
probably benign |
Het |
Tgm4 |
A |
T |
9: 122,885,595 (GRCm39) |
D379V |
probably damaging |
Het |
Thyn1 |
A |
T |
9: 26,914,893 (GRCm39) |
D15V |
possibly damaging |
Het |
Timd6 |
A |
G |
11: 46,468,207 (GRCm39) |
T94A |
probably damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,226,712 (GRCm39) |
V167A |
possibly damaging |
Het |
Trim38 |
A |
C |
13: 23,975,474 (GRCm39) |
Q471P |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,424,384 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,336,375 (GRCm39) |
I1500V |
probably benign |
Het |
Vgll4 |
C |
T |
6: 114,867,573 (GRCm39) |
|
probably null |
Het |
Vmn1r173 |
T |
A |
7: 23,402,441 (GRCm39) |
N225K |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,614,913 (GRCm39) |
G226R |
probably damaging |
Het |
Wnk3 |
C |
A |
X: 150,016,209 (GRCm39) |
P555Q |
probably benign |
Het |
Yes1 |
T |
G |
5: 32,797,929 (GRCm39) |
Y83D |
possibly damaging |
Het |
Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
Het |
|
Other mutations in Rpgrip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Rpgrip1
|
APN |
14 |
52,387,895 (GRCm39) |
splice site |
probably null |
|
IGL01016:Rpgrip1
|
APN |
14 |
52,383,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Rpgrip1
|
APN |
14 |
52,368,633 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01382:Rpgrip1
|
APN |
14 |
52,382,934 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01433:Rpgrip1
|
APN |
14 |
52,363,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Rpgrip1
|
APN |
14 |
52,349,634 (GRCm39) |
nonsense |
probably null |
|
IGL01548:Rpgrip1
|
APN |
14 |
52,363,728 (GRCm39) |
splice site |
probably benign |
|
IGL01652:Rpgrip1
|
APN |
14 |
52,382,949 (GRCm39) |
unclassified |
probably benign |
|
IGL02040:Rpgrip1
|
APN |
14 |
52,358,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02113:Rpgrip1
|
APN |
14 |
52,371,301 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02121:Rpgrip1
|
APN |
14 |
52,384,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02185:Rpgrip1
|
APN |
14 |
52,349,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02234:Rpgrip1
|
APN |
14 |
52,368,766 (GRCm39) |
splice site |
probably benign |
|
IGL02322:Rpgrip1
|
APN |
14 |
52,387,499 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02379:Rpgrip1
|
APN |
14 |
52,376,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02524:Rpgrip1
|
APN |
14 |
52,358,511 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02836:Rpgrip1
|
APN |
14 |
52,382,714 (GRCm39) |
splice site |
probably null |
|
IGL03264:Rpgrip1
|
APN |
14 |
52,378,109 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03410:Rpgrip1
|
APN |
14 |
52,395,823 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,387,001 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,386,851 (GRCm39) |
utr 3 prime |
probably benign |
|
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0089:Rpgrip1
|
UTSW |
14 |
52,386,841 (GRCm39) |
utr 3 prime |
probably benign |
|
R0498:Rpgrip1
|
UTSW |
14 |
52,368,771 (GRCm39) |
splice site |
probably benign |
|
R0602:Rpgrip1
|
UTSW |
14 |
52,371,313 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0776:Rpgrip1
|
UTSW |
14 |
52,378,626 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1139:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
R1528:Rpgrip1
|
UTSW |
14 |
52,349,681 (GRCm39) |
missense |
probably benign |
0.01 |
R1715:Rpgrip1
|
UTSW |
14 |
52,378,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1934:Rpgrip1
|
UTSW |
14 |
52,352,101 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2087:Rpgrip1
|
UTSW |
14 |
52,374,079 (GRCm39) |
splice site |
probably null |
|
R2114:Rpgrip1
|
UTSW |
14 |
52,387,024 (GRCm39) |
missense |
probably benign |
0.27 |
R3406:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3835:Rpgrip1
|
UTSW |
14 |
52,384,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4084:Rpgrip1
|
UTSW |
14 |
52,386,808 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4124:Rpgrip1
|
UTSW |
14 |
52,389,781 (GRCm39) |
splice site |
probably null |
|
R4381:Rpgrip1
|
UTSW |
14 |
52,387,906 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4520:Rpgrip1
|
UTSW |
14 |
52,389,746 (GRCm39) |
missense |
probably benign |
0.08 |
R4904:Rpgrip1
|
UTSW |
14 |
52,358,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4904:Rpgrip1
|
UTSW |
14 |
52,397,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R5284:Rpgrip1
|
UTSW |
14 |
52,386,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5377:Rpgrip1
|
UTSW |
14 |
52,397,652 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5499:Rpgrip1
|
UTSW |
14 |
52,378,042 (GRCm39) |
missense |
probably benign |
0.00 |
R5729:Rpgrip1
|
UTSW |
14 |
52,397,617 (GRCm39) |
missense |
probably benign |
0.28 |
R5834:Rpgrip1
|
UTSW |
14 |
52,395,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R6157:Rpgrip1
|
UTSW |
14 |
52,349,631 (GRCm39) |
missense |
probably benign |
0.00 |
R6455:Rpgrip1
|
UTSW |
14 |
52,378,646 (GRCm39) |
missense |
probably damaging |
0.97 |
R6796:Rpgrip1
|
UTSW |
14 |
52,387,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Rpgrip1
|
UTSW |
14 |
52,378,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7173:Rpgrip1
|
UTSW |
14 |
52,349,633 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7302:Rpgrip1
|
UTSW |
14 |
52,387,012 (GRCm39) |
missense |
unknown |
|
R7315:Rpgrip1
|
UTSW |
14 |
52,358,458 (GRCm39) |
missense |
not run |
|
R7320:Rpgrip1
|
UTSW |
14 |
52,368,673 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7344:Rpgrip1
|
UTSW |
14 |
52,378,116 (GRCm39) |
missense |
probably damaging |
0.98 |
R7459:Rpgrip1
|
UTSW |
14 |
52,378,016 (GRCm39) |
missense |
probably benign |
0.18 |
R7797:Rpgrip1
|
UTSW |
14 |
52,371,277 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7852:Rpgrip1
|
UTSW |
14 |
52,383,337 (GRCm39) |
missense |
probably benign |
0.01 |
R7916:Rpgrip1
|
UTSW |
14 |
52,368,641 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7990:Rpgrip1
|
UTSW |
14 |
52,366,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8041:Rpgrip1
|
UTSW |
14 |
52,356,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8344:Rpgrip1
|
UTSW |
14 |
52,387,819 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8403:Rpgrip1
|
UTSW |
14 |
52,389,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8559:Rpgrip1
|
UTSW |
14 |
52,386,714 (GRCm39) |
missense |
unknown |
|
R8679:Rpgrip1
|
UTSW |
14 |
52,396,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8817:Rpgrip1
|
UTSW |
14 |
52,378,056 (GRCm39) |
missense |
probably benign |
0.33 |
R8890:Rpgrip1
|
UTSW |
14 |
52,382,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9197:Rpgrip1
|
UTSW |
14 |
52,382,857 (GRCm39) |
missense |
possibly damaging |
0.51 |
RF028:Rpgrip1
|
UTSW |
14 |
52,386,855 (GRCm39) |
nonsense |
probably null |
|
RF034:Rpgrip1
|
UTSW |
14 |
52,386,983 (GRCm39) |
utr 3 prime |
probably benign |
|
RF035:Rpgrip1
|
UTSW |
14 |
52,386,850 (GRCm39) |
utr 3 prime |
probably benign |
|
RF036:Rpgrip1
|
UTSW |
14 |
52,386,998 (GRCm39) |
frame shift |
probably null |
|
RF040:Rpgrip1
|
UTSW |
14 |
52,386,994 (GRCm39) |
frame shift |
probably null |
|
RF043:Rpgrip1
|
UTSW |
14 |
52,386,852 (GRCm39) |
utr 3 prime |
probably benign |
|
X0024:Rpgrip1
|
UTSW |
14 |
52,378,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0026:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAATGAGCTTCGGGTTG -3'
(R):5'- TGACTGTTCCAAGCAAGTAAAC -3'
Sequencing Primer
(F):5'- AATGAGCTTCGGGTTGAGATCACC -3'
(R):5'- TTGGTAAGGACAGAGAGATGATGC -3'
|
Posted On |
2015-07-07 |