Incidental Mutation 'R7315:Rpgrip1'
ID |
567910 |
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 |
045368-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R7315 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 52358458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 188
(T188I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111603]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
not run
Transcript: ENSMUST00000111603
AA Change: T188I
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132 AA Change: T188I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
C |
7: 119,893,341 (GRCm39) |
I1264L |
probably benign |
Het |
Abcg8 |
C |
A |
17: 85,004,142 (GRCm39) |
D484E |
probably damaging |
Het |
Abhd13 |
T |
A |
8: 10,037,970 (GRCm39) |
L189H |
probably damaging |
Het |
Acox2 |
T |
C |
14: 8,256,139 (GRCm38) |
D60G |
probably damaging |
Het |
Acp3 |
A |
G |
9: 104,193,423 (GRCm39) |
|
probably null |
Het |
Agpat4 |
C |
T |
17: 12,429,185 (GRCm39) |
R146C |
probably damaging |
Het |
Antxrl |
T |
C |
14: 33,793,504 (GRCm39) |
S411P |
unknown |
Het |
B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
Camk1d |
T |
C |
2: 5,344,041 (GRCm39) |
Y198C |
probably damaging |
Het |
Cd1d1 |
C |
T |
3: 86,905,420 (GRCm39) |
R191H |
possibly damaging |
Het |
Cd93 |
A |
G |
2: 148,284,461 (GRCm39) |
V295A |
probably damaging |
Het |
Cdc27 |
G |
A |
11: 104,406,270 (GRCm39) |
T615I |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,547,476 (GRCm39) |
Y1221H |
unknown |
Het |
Col24a1 |
G |
A |
3: 145,137,625 (GRCm39) |
S896N |
possibly damaging |
Het |
Crppa |
A |
G |
12: 36,440,373 (GRCm39) |
T94A |
probably benign |
Het |
Cst7 |
C |
A |
2: 150,412,503 (GRCm39) |
P22Q |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,061,743 (GRCm39) |
A2781T |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,656,423 (GRCm39) |
A1588T |
probably benign |
Het |
Dsg2 |
A |
T |
18: 20,712,217 (GRCm39) |
I118F |
probably damaging |
Het |
Eif1ad2 |
A |
G |
12: 87,786,473 (GRCm39) |
E128G |
unknown |
Het |
Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
Epha3 |
A |
T |
16: 63,372,972 (GRCm39) |
D910E |
probably benign |
Het |
Ext1 |
T |
C |
15: 52,936,783 (GRCm39) |
D654G |
probably damaging |
Het |
Fnip2 |
A |
G |
3: 79,413,512 (GRCm39) |
|
probably null |
Het |
Gon4l |
T |
A |
3: 88,802,486 (GRCm39) |
H1032Q |
probably benign |
Het |
Kitl |
G |
A |
10: 99,851,974 (GRCm39) |
R31H |
unknown |
Het |
Lcp2 |
G |
A |
11: 34,019,906 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,322,166 (GRCm39) |
H1921R |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,010,051 (GRCm39) |
T400A |
probably benign |
Het |
Mak16 |
G |
A |
8: 31,654,766 (GRCm39) |
R143* |
probably null |
Het |
Mettl23 |
A |
G |
11: 116,739,928 (GRCm39) |
I159V |
probably benign |
Het |
Mr1 |
T |
C |
1: 155,005,036 (GRCm39) |
N335D |
probably benign |
Het |
Muc2 |
T |
C |
7: 141,276,645 (GRCm39) |
C12R |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,387,892 (GRCm39) |
|
probably null |
Het |
Nav2 |
A |
G |
7: 49,198,037 (GRCm39) |
N33S |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
Nmt1 |
A |
G |
11: 102,951,009 (GRCm39) |
N367D |
probably benign |
Het |
Noc2l |
T |
G |
4: 156,325,817 (GRCm39) |
S354R |
probably damaging |
Het |
Opn1sw |
A |
T |
6: 29,379,362 (GRCm39) |
I214N |
probably damaging |
Het |
Or12d14-ps1 |
G |
T |
17: 37,673,551 (GRCm39) |
C181F |
probably damaging |
Het |
Or13e8 |
T |
A |
4: 43,696,961 (GRCm39) |
I71F |
probably damaging |
Het |
Or14c40 |
T |
C |
7: 86,313,445 (GRCm39) |
S192P |
probably damaging |
Het |
Or4k52 |
T |
C |
2: 111,611,004 (GRCm39) |
V113A |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,496 (GRCm39) |
F98L |
probably benign |
Het |
Or7e169 |
G |
T |
9: 19,757,131 (GRCm39) |
S261R |
probably damaging |
Het |
Or8a1 |
T |
C |
9: 37,641,872 (GRCm39) |
M136V |
probably benign |
Het |
Or8b9 |
A |
T |
9: 37,766,543 (GRCm39) |
Y143F |
probably benign |
Het |
Papss2 |
T |
C |
19: 32,616,625 (GRCm39) |
V217A |
possibly damaging |
Het |
Pes1 |
A |
G |
11: 3,926,085 (GRCm39) |
I291M |
probably benign |
Het |
Ptprb |
T |
A |
10: 116,198,284 (GRCm39) |
I1660N |
possibly damaging |
Het |
Rapgef1 |
C |
A |
2: 29,624,504 (GRCm39) |
T1030K |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,761,477 (GRCm39) |
M268V |
probably benign |
Het |
Rbl2 |
A |
T |
8: 91,802,640 (GRCm39) |
T154S |
probably damaging |
Het |
Rgs1 |
A |
G |
1: 144,124,637 (GRCm39) |
|
probably null |
Het |
Rrp1b |
T |
A |
17: 32,277,545 (GRCm39) |
F608L |
probably benign |
Het |
Sbp |
C |
T |
17: 24,164,280 (GRCm39) |
A154V |
probably benign |
Het |
Scara3 |
C |
T |
14: 66,168,889 (GRCm39) |
E243K |
probably damaging |
Het |
Serpinb6b |
A |
T |
13: 33,156,240 (GRCm39) |
D110V |
probably benign |
Het |
Skic2 |
T |
A |
17: 35,060,145 (GRCm39) |
D875V |
probably benign |
Het |
Slc2a4 |
G |
C |
11: 69,837,259 (GRCm39) |
T59R |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,247,310 (GRCm39) |
S462P |
probably damaging |
Het |
Slc66a1 |
G |
A |
4: 139,029,181 (GRCm39) |
T101M |
probably damaging |
Het |
Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
Srf |
T |
C |
17: 46,862,720 (GRCm39) |
|
probably null |
Het |
Steap3 |
A |
G |
1: 120,155,642 (GRCm39) |
V439A |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,698,541 (GRCm39) |
D268N |
probably damaging |
Het |
Tent5b |
C |
T |
4: 133,214,395 (GRCm39) |
T422I |
probably damaging |
Het |
Terf2 |
T |
C |
8: 107,807,849 (GRCm39) |
N242S |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,071,544 (GRCm39) |
T2364A |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,938,806 (GRCm39) |
H365Q |
possibly damaging |
Het |
Tnrc6c |
T |
G |
11: 117,614,354 (GRCm39) |
N837K |
probably benign |
Het |
Trim67 |
T |
A |
8: 125,521,069 (GRCm39) |
S144T |
probably benign |
Het |
Zc3hav1l |
T |
G |
6: 38,272,082 (GRCm39) |
D229A |
possibly damaging |
Het |
Zmym4 |
A |
T |
4: 126,776,385 (GRCm39) |
V1184E |
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 |
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 |
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 |
52,397,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R4904:Rpgrip1
|
UTSW |
14 |
52,358,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
|
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 |
|
Posted On |
2019-06-26 |