Incidental Mutation 'IGL01548:Rpgrip1'
| ID |
93246 |
| 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 # |
IGL01548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 52363728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181401]
|
| AlphaFold |
Q9EPQ2 |
| 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: 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: 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: ENSMUST00000181673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
T |
12: 84,103,863 (GRCm39) |
T224I |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,490,931 (GRCm39) |
G512E |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,679 (GRCm39) |
I181T |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,346 (GRCm39) |
I230V |
probably benign |
Het |
| Cenpj |
C |
A |
14: 56,769,776 (GRCm39) |
V1138L |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,958,564 (GRCm39) |
|
probably benign |
Het |
| Clec2j |
T |
A |
6: 128,632,941 (GRCm39) |
|
noncoding transcript |
Het |
| Col5a3 |
T |
C |
9: 20,714,296 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,750,183 (GRCm39) |
T105S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,338,660 (GRCm39) |
Y482* |
probably null |
Het |
| Ctrl |
C |
A |
8: 106,659,890 (GRCm39) |
|
probably benign |
Het |
| Dhcr24 |
T |
A |
4: 106,431,068 (GRCm39) |
C252* |
probably null |
Het |
| Dnaaf9 |
T |
C |
2: 130,656,179 (GRCm39) |
N110D |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,989,438 (GRCm39) |
P1261S |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,643,768 (GRCm39) |
L466P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,071,922 (GRCm39) |
F3036Y |
probably damaging |
Het |
| Eef1akmt2 |
A |
C |
7: 132,433,134 (GRCm39) |
S191A |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,063,406 (GRCm39) |
C4454Y |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,941,907 (GRCm39) |
S267P |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,678,834 (GRCm39) |
C219R |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,850 (GRCm39) |
Q207L |
probably damaging |
Het |
| Gm19668 |
A |
T |
10: 77,634,242 (GRCm39) |
C242* |
probably null |
Het |
| Gm2840 |
G |
A |
5: 96,322,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1p1 |
G |
A |
X: 3,078,226 (GRCm39) |
G423S |
probably benign |
Het |
| Golim4 |
C |
T |
3: 75,815,432 (GRCm39) |
|
probably null |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,169 (GRCm39) |
T530K |
probably damaging |
Het |
| Hacl1 |
A |
T |
14: 31,362,553 (GRCm39) |
D31E |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,502,723 (GRCm39) |
T4276A |
possibly damaging |
Het |
| Henmt1 |
T |
C |
3: 108,850,095 (GRCm39) |
I26T |
probably damaging |
Het |
| Hspa1l |
G |
A |
17: 35,197,367 (GRCm39) |
A469T |
probably damaging |
Het |
| Htra3 |
T |
A |
5: 35,821,420 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
T |
C |
8: 36,057,613 (GRCm39) |
L696P |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,234,252 (GRCm39) |
K808E |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,496 (GRCm39) |
Y188H |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,408,215 (GRCm39) |
|
probably benign |
Het |
| Naca |
A |
T |
10: 127,876,773 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,371,147 (GRCm39) |
V213D |
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,238,282 (GRCm39) |
V50M |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,883 (GRCm39) |
F254I |
possibly damaging |
Het |
| Or5b111 |
A |
G |
19: 13,291,350 (GRCm39) |
F100L |
possibly damaging |
Het |
| Or5g23 |
A |
G |
2: 85,439,105 (GRCm39) |
W50R |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,646 (GRCm39) |
T220A |
probably benign |
Het |
| Or8k53 |
T |
A |
2: 86,178,077 (GRCm39) |
Y11F |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,896,632 (GRCm39) |
Y311C |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,468,562 (GRCm39) |
Y204S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,808,407 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,073,458 (GRCm39) |
R519G |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,534,261 (GRCm39) |
Y375N |
probably benign |
Het |
| Prss35 |
C |
A |
9: 86,637,327 (GRCm39) |
S32R |
probably benign |
Het |
| Prss57 |
C |
T |
10: 79,621,581 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
A |
C |
1: 138,027,219 (GRCm39) |
|
probably null |
Het |
| Rims1 |
A |
G |
1: 22,577,683 (GRCm39) |
C188R |
probably damaging |
Het |
| Ripk4 |
G |
T |
16: 97,552,696 (GRCm39) |
Y144* |
probably null |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,691 (GRCm39) |
V378A |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,542,589 (GRCm39) |
K298E |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,071,520 (GRCm39) |
F1237L |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,938,238 (GRCm39) |
I227T |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,782,607 (GRCm39) |
I1041F |
possibly damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,854,414 (GRCm39) |
T91A |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,868,564 (GRCm39) |
E353G |
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,410,262 (GRCm39) |
M818T |
probably benign |
Het |
| Tas2r119 |
T |
A |
15: 32,178,123 (GRCm39) |
F230I |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,420,385 (GRCm39) |
D716G |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,521,465 (GRCm39) |
S58P |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,943 (GRCm39) |
I45V |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,088,955 (GRCm39) |
L96P |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,717,782 (GRCm39) |
S276R |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,600,643 (GRCm39) |
S24P |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,909,600 (GRCm39) |
I576V |
probably benign |
Het |
| Vmn1r27 |
G |
T |
6: 58,192,538 (GRCm39) |
N105K |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,240,893 (GRCm39) |
Y73* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,151 (GRCm39) |
I822V |
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,452,096 (GRCm39) |
V596I |
possibly damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,643 (GRCm39) |
K132N |
possibly damaging |
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 |
|
|
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 |
52,358,544 (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 |
2013-12-09 |
Incidental Mutation