Incidental Mutation 'IGL03410:Rpgrip1'
ID |
421773 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rpgrip1
|
Ensembl Gene |
ENSMUSG00000057132 |
Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
IGL03410
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 52395823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046709]
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046709
|
SMART Domains |
Protein: ENSMUSP00000042283 Gene: ENSMUSG00000035726
Domain | Start | End | E-Value | Type |
FACT-Spt16_Nlob
|
5 |
168 |
2.95e-87 |
SMART |
Pfam:Peptidase_M24
|
181 |
411 |
2.9e-35 |
PFAM |
low complexity region
|
435 |
449 |
N/A |
INTRINSIC |
coiled coil region
|
462 |
493 |
N/A |
INTRINSIC |
SPT16
|
529 |
689 |
3.38e-96 |
SMART |
Rtt106
|
806 |
896 |
1.61e-38 |
SMART |
low complexity region
|
926 |
946 |
N/A |
INTRINSIC |
low complexity region
|
951 |
988 |
N/A |
INTRINSIC |
coiled coil region
|
994 |
1023 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111600
|
SMART Domains |
Protein: ENSMUSP00000107227 Gene: ENSMUSG00000057132
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 |
probably benign
Transcript: ENSMUST00000111603
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132
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 |
probably benign
Transcript: ENSMUST00000180500
|
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181401
|
SMART Domains |
Protein: ENSMUSP00000138027 Gene: ENSMUSG00000057132
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: ENSMUST00000181208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181736
|
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 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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
A |
17: 9,220,728 (GRCm39) |
V409E |
probably damaging |
Het |
1700086D15Rik |
A |
G |
11: 65,043,393 (GRCm39) |
|
probably benign |
Het |
Apba1 |
A |
G |
19: 23,914,945 (GRCm39) |
N715S |
possibly damaging |
Het |
Arfgef3 |
G |
T |
10: 18,476,238 (GRCm39) |
A1527D |
probably damaging |
Het |
Cmtm2a |
G |
T |
8: 105,010,501 (GRCm39) |
P133T |
probably damaging |
Het |
Cyp2d9 |
T |
C |
15: 82,340,900 (GRCm39) |
V483A |
probably benign |
Het |
Dclre1b |
T |
A |
3: 103,715,456 (GRCm39) |
D14V |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,083,535 (GRCm39) |
I125V |
probably benign |
Het |
Dok3 |
G |
T |
13: 55,672,044 (GRCm39) |
Y211* |
probably null |
Het |
Fat4 |
T |
C |
3: 38,945,325 (GRCm39) |
V1406A |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,183,315 (GRCm39) |
F1790S |
possibly damaging |
Het |
Gm4787 |
A |
T |
12: 81,425,948 (GRCm39) |
M70K |
probably damaging |
Het |
Gulp1 |
A |
T |
1: 44,747,777 (GRCm39) |
D10V |
probably damaging |
Het |
Hagh |
T |
C |
17: 25,079,916 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 34,956,789 (GRCm39) |
E206G |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,299,355 (GRCm39) |
E682G |
probably benign |
Het |
Ift56 |
T |
C |
6: 38,362,435 (GRCm39) |
L70P |
probably damaging |
Het |
Igkv4-59 |
G |
T |
6: 69,415,450 (GRCm39) |
A35E |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,862,421 (GRCm39) |
V80A |
probably damaging |
Het |
Lars2 |
G |
A |
9: 123,247,841 (GRCm39) |
A333T |
possibly damaging |
Het |
Lrrc4 |
G |
A |
6: 28,830,515 (GRCm39) |
R367W |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
Mep1a |
T |
A |
17: 43,788,986 (GRCm39) |
|
probably null |
Het |
Mmrn1 |
A |
G |
6: 60,952,819 (GRCm39) |
I367V |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,738,830 (GRCm39) |
L1677P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,209,717 (GRCm39) |
T246A |
probably benign |
Het |
Nkiras1 |
A |
G |
14: 18,280,073 (GRCm38) |
R155G |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,379 (GRCm39) |
N726S |
probably benign |
Het |
Nyap2 |
A |
G |
1: 81,219,156 (GRCm39) |
T393A |
possibly damaging |
Het |
Oprm1 |
A |
T |
10: 6,780,051 (GRCm39) |
I238F |
probably damaging |
Het |
Or4b1b |
A |
G |
2: 90,112,557 (GRCm39) |
Y121H |
probably damaging |
Het |
Or4b1d |
G |
A |
2: 89,969,489 (GRCm39) |
|
probably benign |
Het |
Or5m11b |
T |
A |
2: 85,805,764 (GRCm39) |
M59K |
probably damaging |
Het |
Pcnx2 |
T |
A |
8: 126,613,779 (GRCm39) |
E557D |
probably damaging |
Het |
Pole |
A |
G |
5: 110,472,425 (GRCm39) |
I1563V |
probably benign |
Het |
Pramel21 |
C |
A |
4: 143,341,851 (GRCm39) |
H93Q |
probably benign |
Het |
Prdx3 |
T |
G |
19: 60,859,848 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,669,501 (GRCm39) |
R295K |
probably null |
Het |
Rhbdl2 |
T |
A |
4: 123,723,463 (GRCm39) |
L289* |
probably null |
Het |
Rnps1 |
A |
G |
17: 24,640,835 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,603,033 (GRCm39) |
Y4518N |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,772,436 (GRCm39) |
N296S |
probably damaging |
Het |
Sipa1l3 |
G |
A |
7: 29,047,964 (GRCm39) |
T1308M |
probably damaging |
Het |
Slc39a9 |
A |
G |
12: 80,691,662 (GRCm39) |
D3G |
probably damaging |
Het |
Slc4a9 |
A |
G |
18: 36,662,740 (GRCm39) |
E165G |
probably benign |
Het |
Slc6a3 |
A |
T |
13: 73,686,776 (GRCm39) |
I48F |
probably benign |
Het |
Stxbp3 |
C |
T |
3: 108,709,476 (GRCm39) |
C354Y |
probably damaging |
Het |
Terb1 |
C |
A |
8: 105,199,674 (GRCm39) |
|
probably benign |
Het |
Tfrc |
G |
A |
16: 32,443,649 (GRCm39) |
|
probably null |
Het |
Toporsl |
A |
C |
4: 52,611,134 (GRCm39) |
R342S |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,978 (GRCm39) |
W141R |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,910,486 (GRCm39) |
V3417L |
probably benign |
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 |
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 |
R4407:Rpgrip1
|
UTSW |
14 |
52,384,856 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |