Incidental Mutation 'R7417:Ripor2'
ID |
575404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ripor2
|
Ensembl Gene |
ENSMUSG00000036006 |
Gene Name |
RHO family interacting cell polarization regulator 2 |
Synonyms |
1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik |
MMRRC Submission |
045495-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R7417 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24880533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 411
(D411G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[ENSMUST00000058009]
[ENSMUST00000091694]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000132689]
|
AlphaFold |
Q80U16 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038477
AA Change: D411G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: D411G
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
low complexity region
|
461 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058009
|
SMART Domains |
Protein: ENSMUSP00000051342 Gene: ENSMUSG00000036006
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091694
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
coiled coil region
|
111 |
140 |
N/A |
INTRINSIC |
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110383
AA Change: D386G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: D386G
Domain | Start | End | E-Value | Type |
coiled coil region
|
83 |
112 |
N/A |
INTRINSIC |
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
low complexity region
|
657 |
672 |
N/A |
INTRINSIC |
low complexity region
|
857 |
864 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
901 |
1023 |
2e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110384
AA Change: D411G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: D411G
Domain | Start | End | E-Value | Type |
Pfam:PL48
|
41 |
389 |
6e-174 |
PFAM |
low complexity region
|
461 |
476 |
N/A |
INTRINSIC |
low complexity region
|
655 |
664 |
N/A |
INTRINSIC |
low complexity region
|
682 |
697 |
N/A |
INTRINSIC |
low complexity region
|
882 |
889 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
926 |
1048 |
2e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132689
|
Meta Mutation Damage Score |
0.1681 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (79/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016] PHENOTYPE: Homozygous knockout mice are deaf. The gene product is expressed in the basal region of cochlear hair cell stereocillia, which are disorganized and malformed in null mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,460,057 (GRCm39) |
T213I |
probably damaging |
Het |
Akr1b7 |
G |
A |
6: 34,394,300 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
T |
C |
12: 84,488,556 (GRCm39) |
Q110R |
probably benign |
Het |
Alg11 |
A |
T |
8: 22,552,044 (GRCm39) |
T63S |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,367,020 (GRCm39) |
Y271H |
probably damaging |
Het |
Ano8 |
T |
A |
8: 71,933,477 (GRCm39) |
D605V |
unknown |
Het |
Best2 |
C |
T |
8: 85,736,295 (GRCm39) |
|
probably null |
Het |
Brca1 |
A |
G |
11: 101,415,807 (GRCm39) |
S776P |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,092,663 (GRCm39) |
Y737H |
probably damaging |
Het |
Cblc |
A |
T |
7: 19,522,899 (GRCm39) |
S333T |
probably benign |
Het |
Ccm2 |
T |
A |
11: 6,543,091 (GRCm39) |
M257K |
probably benign |
Het |
Cd320 |
T |
A |
17: 34,066,530 (GRCm39) |
C103* |
probably null |
Het |
Cd53 |
A |
G |
3: 106,676,235 (GRCm39) |
F44S |
probably benign |
Het |
Col9a2 |
G |
A |
4: 120,911,489 (GRCm39) |
R610H |
not run |
Het |
Cubn |
T |
C |
2: 13,431,778 (GRCm39) |
I1272V |
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,090,225 (GRCm39) |
|
probably null |
Het |
Dmrt2 |
A |
T |
19: 25,655,962 (GRCm39) |
R520S |
probably benign |
Het |
Dnai3 |
A |
T |
3: 145,798,835 (GRCm39) |
|
probably null |
Het |
Drg2 |
A |
G |
11: 60,345,506 (GRCm39) |
M1V |
probably null |
Het |
Ect2 |
A |
G |
3: 27,152,568 (GRCm39) |
S908P |
probably damaging |
Het |
Eipr1 |
A |
G |
12: 28,916,954 (GRCm39) |
T341A |
probably benign |
Het |
Ell3 |
A |
C |
2: 121,270,891 (GRCm39) |
I214R |
probably benign |
Het |
Emsy |
A |
T |
7: 98,264,693 (GRCm39) |
L568Q |
probably damaging |
Het |
Foxd4 |
T |
C |
19: 24,877,826 (GRCm39) |
T125A |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Gcsam |
C |
A |
16: 45,440,240 (GRCm39) |
H94Q |
probably damaging |
Het |
Ginm1 |
T |
A |
10: 7,649,844 (GRCm39) |
I150F |
probably damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Hk2 |
G |
A |
6: 82,720,326 (GRCm39) |
A205V |
probably damaging |
Het |
Il3ra |
A |
T |
14: 14,349,345 (GRCm38) |
H147L |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,975,707 (GRCm39) |
S732T |
probably benign |
Het |
Masp2 |
A |
G |
4: 148,690,178 (GRCm39) |
E229G |
probably benign |
Het |
Mccc2 |
A |
G |
13: 100,108,285 (GRCm39) |
|
probably null |
Het |
Mia3 |
A |
G |
1: 183,108,508 (GRCm39) |
V359A |
|
Het |
Mob1a |
A |
T |
6: 83,309,492 (GRCm39) |
T80S |
probably benign |
Het |
Msantd2 |
G |
A |
9: 37,434,590 (GRCm39) |
G478S |
probably damaging |
Het |
Mtf1 |
A |
G |
4: 124,718,974 (GRCm39) |
E329G |
probably null |
Het |
Myh9 |
T |
A |
15: 77,648,065 (GRCm39) |
K1804* |
probably null |
Het |
Ndst3 |
A |
G |
3: 123,465,313 (GRCm39) |
W220R |
probably damaging |
Het |
Nln |
A |
G |
13: 104,173,478 (GRCm39) |
L576P |
probably damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,483 (GRCm39) |
M300T |
probably benign |
Het |
Obscn |
G |
T |
11: 59,020,403 (GRCm39) |
D880E |
possibly damaging |
Het |
Oprd1 |
T |
C |
4: 131,844,763 (GRCm39) |
T82A |
probably damaging |
Het |
Or2n1d |
T |
A |
17: 38,646,183 (GRCm39) |
I45N |
probably damaging |
Het |
Or4f60 |
A |
C |
2: 111,902,445 (GRCm39) |
V161G |
probably benign |
Het |
Orc3 |
A |
G |
4: 34,595,136 (GRCm39) |
C278R |
probably damaging |
Het |
Pde4d |
T |
A |
13: 109,769,322 (GRCm39) |
|
probably null |
Het |
Pms1 |
T |
C |
1: 53,236,231 (GRCm39) |
E683G |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,905,869 (GRCm39) |
Y73N |
probably damaging |
Het |
Prkaa2 |
T |
C |
4: 104,932,740 (GRCm39) |
Q36R |
probably benign |
Het |
Psg22 |
A |
G |
7: 18,456,891 (GRCm39) |
E258G |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,069,369 (GRCm39) |
D1566G |
probably damaging |
Het |
Rfwd3 |
T |
A |
8: 111,999,701 (GRCm39) |
Y759F |
probably benign |
Het |
Ryr2 |
A |
C |
13: 11,571,634 (GRCm39) |
|
probably null |
Het |
Sdr42e1 |
T |
C |
8: 118,389,490 (GRCm39) |
T384A |
probably benign |
Het |
Sec1 |
A |
T |
7: 45,334,149 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
T |
2: 26,311,409 (GRCm39) |
F616I |
|
Het |
Sipa1l2 |
T |
C |
8: 126,208,845 (GRCm39) |
D521G |
possibly damaging |
Het |
Smc1b |
T |
A |
15: 84,981,743 (GRCm39) |
Q759L |
probably benign |
Het |
Snph |
A |
T |
2: 151,442,263 (GRCm39) |
S57R |
probably damaging |
Het |
Sqor |
A |
T |
2: 122,629,450 (GRCm39) |
T103S |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,443,749 (GRCm39) |
V159A |
probably benign |
Het |
Srsf2 |
A |
T |
11: 116,743,727 (GRCm39) |
V10E |
probably damaging |
Het |
Swap70 |
T |
A |
7: 109,863,316 (GRCm39) |
|
probably null |
Het |
Synm |
A |
C |
7: 67,382,954 (GRCm39) |
*675G |
probably null |
Het |
Tek |
A |
G |
4: 94,699,582 (GRCm39) |
E320G |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,689,218 (GRCm39) |
D2123G |
probably damaging |
Het |
Tmod4 |
A |
G |
3: 95,033,174 (GRCm39) |
K56R |
possibly damaging |
Het |
Top3b |
G |
A |
16: 16,695,714 (GRCm39) |
|
probably benign |
Het |
Tssc4 |
G |
T |
7: 142,624,425 (GRCm39) |
E244D |
possibly damaging |
Het |
Twnk |
G |
A |
19: 44,999,003 (GRCm39) |
|
probably null |
Het |
Ube4a |
A |
C |
9: 44,868,011 (GRCm39) |
I45S |
probably benign |
Het |
Unc79 |
A |
T |
12: 103,055,017 (GRCm39) |
M954L |
possibly damaging |
Het |
Vcpip1 |
A |
T |
1: 9,816,540 (GRCm39) |
D614E |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
Het |
Vmn1r77 |
A |
G |
7: 11,775,611 (GRCm39) |
Y129C |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,992,834 (GRCm39) |
L600P |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,412,232 (GRCm39) |
T114A |
probably benign |
Het |
Zrsr2-ps1 |
T |
C |
11: 22,924,662 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ripor2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01099:Ripor2
|
APN |
13 |
24,885,190 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02145:Ripor2
|
APN |
13 |
24,901,554 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Ripor2
|
APN |
13 |
24,915,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02358:Ripor2
|
APN |
13 |
24,915,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02377:Ripor2
|
APN |
13 |
24,879,549 (GRCm39) |
splice site |
probably benign |
|
IGL02533:Ripor2
|
APN |
13 |
24,885,378 (GRCm39) |
nonsense |
probably null |
|
IGL02798:Ripor2
|
APN |
13 |
24,858,649 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02852:Ripor2
|
APN |
13 |
24,879,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Ripor2
|
APN |
13 |
24,880,512 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03219:Ripor2
|
APN |
13 |
24,907,702 (GRCm39) |
missense |
probably damaging |
1.00 |
gentleman
|
UTSW |
13 |
24,878,128 (GRCm39) |
missense |
probably damaging |
1.00 |
Jack
|
UTSW |
13 |
24,861,824 (GRCm39) |
nonsense |
probably null |
|
whitechapel
|
UTSW |
13 |
24,857,095 (GRCm39) |
critical splice donor site |
probably null |
|
R0045:Ripor2
|
UTSW |
13 |
24,878,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Ripor2
|
UTSW |
13 |
24,864,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Ripor2
|
UTSW |
13 |
24,864,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Ripor2
|
UTSW |
13 |
24,878,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1331:Ripor2
|
UTSW |
13 |
24,861,824 (GRCm39) |
nonsense |
probably null |
|
R1374:Ripor2
|
UTSW |
13 |
24,857,095 (GRCm39) |
critical splice donor site |
probably null |
|
R1564:Ripor2
|
UTSW |
13 |
24,859,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Ripor2
|
UTSW |
13 |
24,885,237 (GRCm39) |
missense |
probably benign |
0.10 |
R1889:Ripor2
|
UTSW |
13 |
24,877,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Ripor2
|
UTSW |
13 |
24,897,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R2137:Ripor2
|
UTSW |
13 |
24,905,817 (GRCm39) |
critical splice donor site |
probably null |
|
R2209:Ripor2
|
UTSW |
13 |
24,885,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R2242:Ripor2
|
UTSW |
13 |
24,855,755 (GRCm39) |
missense |
probably benign |
0.08 |
R2392:Ripor2
|
UTSW |
13 |
24,890,206 (GRCm39) |
missense |
probably benign |
0.00 |
R2994:Ripor2
|
UTSW |
13 |
24,885,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R4008:Ripor2
|
UTSW |
13 |
24,880,521 (GRCm39) |
missense |
probably benign |
|
R4287:Ripor2
|
UTSW |
13 |
24,908,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4364:Ripor2
|
UTSW |
13 |
24,905,694 (GRCm39) |
missense |
probably benign |
0.07 |
R4365:Ripor2
|
UTSW |
13 |
24,905,694 (GRCm39) |
missense |
probably benign |
0.07 |
R4366:Ripor2
|
UTSW |
13 |
24,905,694 (GRCm39) |
missense |
probably benign |
0.07 |
R4868:Ripor2
|
UTSW |
13 |
24,878,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5304:Ripor2
|
UTSW |
13 |
24,858,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R6119:Ripor2
|
UTSW |
13 |
24,798,627 (GRCm39) |
start gained |
probably benign |
|
R6157:Ripor2
|
UTSW |
13 |
24,885,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6178:Ripor2
|
UTSW |
13 |
24,894,113 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6382:Ripor2
|
UTSW |
13 |
24,861,828 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6664:Ripor2
|
UTSW |
13 |
24,859,803 (GRCm39) |
missense |
probably damaging |
0.98 |
R6908:Ripor2
|
UTSW |
13 |
24,890,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R7023:Ripor2
|
UTSW |
13 |
24,855,829 (GRCm39) |
missense |
probably benign |
0.00 |
R7041:Ripor2
|
UTSW |
13 |
24,877,749 (GRCm39) |
missense |
probably benign |
0.18 |
R7196:Ripor2
|
UTSW |
13 |
24,888,808 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7216:Ripor2
|
UTSW |
13 |
24,855,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Ripor2
|
UTSW |
13 |
24,878,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7299:Ripor2
|
UTSW |
13 |
24,908,984 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7301:Ripor2
|
UTSW |
13 |
24,908,984 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7343:Ripor2
|
UTSW |
13 |
24,885,427 (GRCm39) |
nonsense |
probably null |
|
R7426:Ripor2
|
UTSW |
13 |
24,878,188 (GRCm39) |
missense |
probably benign |
0.01 |
R7448:Ripor2
|
UTSW |
13 |
24,854,054 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7462:Ripor2
|
UTSW |
13 |
24,880,290 (GRCm39) |
missense |
unknown |
|
R7499:Ripor2
|
UTSW |
13 |
24,877,755 (GRCm39) |
missense |
probably damaging |
0.99 |
R8081:Ripor2
|
UTSW |
13 |
24,897,683 (GRCm39) |
missense |
probably benign |
0.01 |
R8157:Ripor2
|
UTSW |
13 |
24,879,600 (GRCm39) |
missense |
probably benign |
0.05 |
R8364:Ripor2
|
UTSW |
13 |
24,894,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8447:Ripor2
|
UTSW |
13 |
24,907,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R8465:Ripor2
|
UTSW |
13 |
24,849,451 (GRCm39) |
intron |
probably benign |
|
R8751:Ripor2
|
UTSW |
13 |
24,885,050 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8818:Ripor2
|
UTSW |
13 |
24,901,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8867:Ripor2
|
UTSW |
13 |
24,822,760 (GRCm39) |
intron |
probably benign |
|
R9079:Ripor2
|
UTSW |
13 |
24,915,637 (GRCm39) |
missense |
probably benign |
0.35 |
R9187:Ripor2
|
UTSW |
13 |
24,897,632 (GRCm39) |
missense |
probably benign |
0.01 |
R9316:Ripor2
|
UTSW |
13 |
24,905,719 (GRCm39) |
missense |
probably benign |
0.09 |
R9320:Ripor2
|
UTSW |
13 |
24,915,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R9355:Ripor2
|
UTSW |
13 |
24,885,694 (GRCm39) |
missense |
probably benign |
0.00 |
R9655:Ripor2
|
UTSW |
13 |
24,908,983 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGAGCATTCTACGACATGAATC -3'
(R):5'- CATGCAAGACCATGCTTCCC -3'
Sequencing Primer
(F):5'- TGAATGACGCCTGCTTGAC -3'
(R):5'- TGCTTCCCACCCCAAGG -3'
|
Posted On |
2019-10-07 |