Incidental Mutation 'R7852:Rpgrip1'
ID |
607017 |
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 |
045905-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R7852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52383337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 752
(N752K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111600
AA Change: N590K
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107227 Gene: ENSMUSG00000057132 AA Change: N590K
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
AA Change: N752K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132 AA Change: N752K
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: 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 |
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 |
unknown
Transcript: ENSMUST00000181401
AA Change: N741K
|
SMART Domains |
Protein: ENSMUSP00000138027 Gene: ENSMUSG00000057132 AA Change: N741K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGT |
GTGTTTGT |
11: 43,478,253 (GRCm39) |
|
probably null |
Het |
Aco1 |
A |
G |
4: 40,180,263 (GRCm39) |
D388G |
probably benign |
Het |
Adgrl1 |
T |
G |
8: 84,662,187 (GRCm39) |
L1016R |
probably damaging |
Het |
Agmo |
C |
T |
12: 37,292,051 (GRCm39) |
P4L |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,253,514 (GRCm39) |
H1792Q |
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,229,254 (GRCm39) |
L615F |
unknown |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,452 (GRCm39) |
M121L |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,432,033 (GRCm39) |
N622K |
possibly damaging |
Het |
Cfhr1 |
A |
C |
1: 139,484,165 (GRCm39) |
V117G |
probably damaging |
Het |
Dnajb1 |
T |
A |
8: 84,336,834 (GRCm39) |
D201E |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,100,092 (GRCm39) |
N48S |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,179,342 (GRCm39) |
I242T |
possibly damaging |
Het |
Eif1ad10 |
A |
C |
12: 88,216,588 (GRCm39) |
Y95D |
probably damaging |
Het |
Eif1ad3 |
G |
A |
12: 87,843,742 (GRCm39) |
V130M |
unknown |
Het |
Fam193a |
C |
A |
5: 34,568,161 (GRCm39) |
D153E |
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,897 (GRCm39) |
D332Y |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,275 (GRCm39) |
I779V |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,172 (GRCm39) |
I11V |
unknown |
Het |
Gm36864 |
ATCAGAAGTTTC |
ATC |
7: 43,886,361 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
G |
A |
14: 45,622,110 (GRCm39) |
P28S |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,069,383 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
T |
6: 142,376,059 (GRCm39) |
F534L |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,027,540 (GRCm39) |
V201I |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,604,043 (GRCm39) |
S287T |
probably benign |
Het |
Kif12 |
G |
C |
4: 63,086,226 (GRCm39) |
P374A |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,592 (GRCm39) |
I371N |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,376,972 (GRCm39) |
V18I |
possibly damaging |
Het |
Masp2 |
G |
A |
4: 148,687,189 (GRCm39) |
E24K |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,517,724 (GRCm39) |
N37D |
possibly damaging |
Het |
Med12l |
T |
A |
3: 59,155,332 (GRCm39) |
F1171I |
probably damaging |
Het |
Med22 |
A |
T |
2: 26,800,376 (GRCm39) |
Y18N |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,411 (GRCm39) |
N162S |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,169,710 (GRCm39) |
N213K |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,515,740 (GRCm39) |
T86I |
probably damaging |
Het |
Mto1 |
G |
T |
9: 78,356,820 (GRCm39) |
V112L |
possibly damaging |
Het |
Napepld |
C |
T |
5: 21,888,171 (GRCm39) |
V93I |
probably benign |
Het |
Nkx2-2 |
A |
T |
2: 147,026,189 (GRCm39) |
M183K |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,281 (GRCm39) |
S400P |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,108,886 (GRCm39) |
L1331P |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,915 (GRCm39) |
D392V |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,745,874 (GRCm39) |
H56R |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,163 (GRCm39) |
V49A |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,351,845 (GRCm39) |
M250K |
probably damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,385 (GRCm39) |
I153F |
probably benign |
Het |
Patl2 |
C |
T |
2: 122,009,590 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
G |
13: 95,244,205 (GRCm39) |
D78A |
probably damaging |
Het |
Pgls |
T |
A |
8: 72,047,847 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,693 (GRCm39) |
S355P |
probably benign |
Het |
Pole |
G |
A |
5: 110,454,695 (GRCm39) |
R976Q |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,896 (GRCm39) |
L511S |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,577,900 (GRCm39) |
N390Y |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,021,098 (GRCm39) |
S8P |
probably benign |
Het |
S100a1 |
C |
A |
3: 90,419,392 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,152,461 (GRCm39) |
F92S |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,121,219 (GRCm39) |
I360T |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,814,159 (GRCm39) |
Y202H |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,400,839 (GRCm39) |
M1K |
probably null |
Het |
Stx8 |
G |
A |
11: 67,860,611 (GRCm39) |
D11N |
probably damaging |
Het |
Vmn2r130 |
A |
G |
17: 23,282,788 (GRCm39) |
N156S |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,892,895 (GRCm39) |
Y748C |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,378 (GRCm39) |
Y90* |
probably null |
Het |
Zc3h4 |
A |
G |
7: 16,156,392 (GRCm39) |
S303G |
unknown |
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 |
|
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 |
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'- ACTTGACTTTTACCGCACACTG -3'
(R):5'- GGCATGATTTCATCTCGTCTGGAG -3'
Sequencing Primer
(F):5'- ACCGCACACTGTTTTCTATGC -3'
(R):5'- CATCTCGTCTGGAGTTTAAGCACAG -3'
|
Posted On |
2019-12-20 |