Incidental Mutation 'R8559:Rpgrip1'
| ID |
660946 |
| 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 |
068522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R8559 (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 C
at 52386714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 882
(S882P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
| AlphaFold |
Q9EPQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111600
AA Change: S720P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: S720P
| 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 |
unknown
Transcript: ENSMUST00000111603
AA Change: S882P
|
| SMART Domains |
Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: S882P
| 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 |
|
| 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: S871P
|
| SMART Domains |
Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: S871P
| 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 |
silent
Transcript: ENSMUST00000181627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| Actr6 |
T |
A |
10: 89,568,048 (GRCm39) |
H19L |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,784,117 (GRCm39) |
V1579E |
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,383,721 (GRCm39) |
R435C |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,897 (GRCm39) |
D207G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,273 (GRCm39) |
N948S |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,692,603 (GRCm39) |
P417L |
probably damaging |
Het |
| Ccn2 |
CCCGCCAACCGC |
CCCGC |
10: 24,471,966 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
A |
2: 155,834,656 (GRCm39) |
S2194T |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,111,032 (GRCm39) |
V102M |
possibly damaging |
Het |
| Cog2 |
T |
C |
8: 125,269,647 (GRCm39) |
S396P |
probably benign |
Het |
| Col28a1 |
C |
A |
6: 8,166,681 (GRCm39) |
R265L |
unknown |
Het |
| Cpa6 |
C |
T |
1: 10,478,574 (GRCm39) |
W254* |
probably null |
Het |
| Crtc2 |
T |
A |
3: 90,170,904 (GRCm39) |
M659K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,764,299 (GRCm39) |
Y3020C |
probably damaging |
Het |
| Dok2 |
C |
A |
14: 71,014,968 (GRCm39) |
H232N |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,694,169 (GRCm39) |
E834G |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,872,502 (GRCm39) |
|
probably null |
Het |
| Epx |
T |
A |
11: 87,755,618 (GRCm39) |
I689F |
probably damaging |
Het |
| Exd2 |
G |
A |
12: 80,522,631 (GRCm39) |
R30H |
probably benign |
Het |
| Gja1 |
T |
C |
10: 56,264,304 (GRCm39) |
L221P |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gm8439 |
T |
A |
4: 120,458,008 (GRCm39) |
W50R |
unknown |
Het |
| Greb1 |
T |
A |
12: 16,746,436 (GRCm39) |
D1278V |
probably damaging |
Het |
| Grin3a |
C |
A |
4: 49,770,555 (GRCm39) |
C739F |
probably damaging |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,551,789 (GRCm39) |
T2605I |
probably benign |
Het |
| Hmgxb3 |
T |
A |
18: 61,288,491 (GRCm39) |
T459S |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,921 (GRCm39) |
H1469R |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,530,884 (GRCm39) |
I407V |
probably benign |
Het |
| Inppl1 |
G |
T |
7: 101,478,834 (GRCm39) |
S555* |
probably null |
Het |
| Krt8 |
T |
C |
15: 101,909,979 (GRCm39) |
M142V |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,932,075 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Megf10 |
G |
A |
18: 57,373,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,684 (GRCm39) |
H338L |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,921,471 (GRCm39) |
T33A |
possibly damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,370 (GRCm39) |
Y399F |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,950 (GRCm39) |
T414I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,754,715 (GRCm38) |
S1530P |
unknown |
Het |
| Myl4 |
T |
C |
11: 104,474,930 (GRCm39) |
V93A |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,982,628 (GRCm39) |
S1627R |
possibly damaging |
Het |
| Narf |
T |
G |
11: 121,141,258 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
C |
12: 13,402,809 (GRCm39) |
I788L |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,783,146 (GRCm39) |
S104P |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,270,528 (GRCm39) |
I32F |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,058,988 (GRCm39) |
V109A |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,559,420 (GRCm39) |
T534S |
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,680 (GRCm39) |
E58G |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,512 (GRCm39) |
V153A |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,419,784 (GRCm39) |
Y443N |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,118,077 (GRCm39) |
D412V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,427,975 (GRCm39) |
T180A |
probably damaging |
Het |
| Suox |
A |
G |
10: 128,506,600 (GRCm39) |
L476P |
probably damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,388 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tubg2 |
T |
C |
11: 101,047,610 (GRCm39) |
V65A |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,882,634 (GRCm39) |
V365A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,646 (GRCm39) |
M807V |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,815,480 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,876,788 (GRCm39) |
I2814F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,214,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Wdr6 |
T |
A |
9: 108,452,593 (GRCm39) |
E430V |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,559 (GRCm39) |
V863E |
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 |
|
|
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 |
|
|
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'- GCAGAAATGCCTGTCTCCTG -3'
(R):5'- TCTTCCGTGAATGAGGCCTC -3'
Sequencing Primer
(F):5'- GAAATGCCTGTCTCCTGTCAGTATAG -3'
(R):5'- TGAATGAGGCCTCCAGGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation