Incidental Mutation 'R4381:Rpgrip1'
| ID |
325344 |
| 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 |
041122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R4381 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52387906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1094
(P1094L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
| AlphaFold |
Q9EPQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111600
AA Change: P901L
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: P901L
| 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 |
possibly damaging
Transcript: ENSMUST00000111603
AA Change: P1105L
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: P1105L
| 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 |
unknown
Transcript: ENSMUST00000180500
AA Change: P3L
|
| 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 |
probably benign
Transcript: ENSMUST00000181017
AA Change: P69L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
AA Change: P69L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181401
AA Change: P1094L
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: P1094L
| 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: 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: ENSMUST00000181823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181627
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
95% (41/43) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,896,502 (GRCm39) |
I993V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,782,214 (GRCm39) |
I1359T |
possibly damaging |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,403 (GRCm39) |
W1168R |
probably damaging |
Het |
| Ighv1-62-1 |
T |
A |
12: 115,350,613 (GRCm39) |
H18L |
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,510,950 (GRCm39) |
I12V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mib2 |
G |
C |
4: 155,742,069 (GRCm39) |
A234G |
possibly damaging |
Het |
| Mtpap |
T |
C |
18: 4,383,223 (GRCm39) |
F200S |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,550,204 (GRCm39) |
T996S |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,376,632 (GRCm39) |
T250S |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,388,690 (GRCm39) |
V310A |
probably benign |
Het |
| Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,747,513 (GRCm39) |
V33A |
probably benign |
Het |
| Pcdha4 |
A |
G |
18: 37,085,928 (GRCm39) |
E37G |
probably damaging |
Het |
| Pdgfc |
A |
G |
3: 81,116,558 (GRCm39) |
K304R |
probably damaging |
Het |
| Peak1 |
G |
T |
9: 56,165,711 (GRCm39) |
A739E |
probably benign |
Het |
| Pla2g4c |
A |
T |
7: 13,079,990 (GRCm39) |
N433Y |
probably damaging |
Het |
| Polrmt |
A |
C |
10: 79,577,642 (GRCm39) |
L319R |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,206,289 (GRCm39) |
T373S |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,387,382 (GRCm39) |
|
probably benign |
Het |
| Ranbp1 |
G |
A |
16: 18,065,208 (GRCm39) |
L33F |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,119,933 (GRCm39) |
K340E |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,912 (GRCm39) |
C705* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zdhhc16 |
A |
G |
19: 41,929,093 (GRCm39) |
Y232C |
possibly damaging |
Het |
| Zfp1 |
T |
A |
8: 112,397,083 (GRCm39) |
L354Q |
probably damaging |
Het |
| Zyg11a |
G |
A |
4: 108,058,517 (GRCm39) |
A341V |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGCCTTTTCAAAGCTCAC -3'
(R):5'- TTCATTGAGCTGGGGAATCC -3'
Sequencing Primer
(F):5'- CGAAGAAATGTAAGCTCTCACTG -3'
(R):5'- AAGGTGTGTGCCACTACTAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation