Incidental Mutation 'IGL01099:Ripor2'
ID |
52562 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ripor2
|
Ensembl Gene |
ENSMUSG00000036006 |
Gene Name |
RHO family interacting cell polarization regulator 2 |
Synonyms |
1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
IGL01099
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24885190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 436
(H436L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[ENSMUST00000058009]
[ENSMUST00000091694]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000132689]
|
AlphaFold |
Q80U16 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038477
AA Change: H475L
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: H475L
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
AA Change: H436L
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: H436L
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 benign
Transcript: ENSMUST00000110383
AA Change: H450L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: H450L
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 benign
Transcript: ENSMUST00000110384
AA Change: H475L
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: H475L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134370
|
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 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,517,966 (GRCm39) |
I607V |
probably benign |
Het |
Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
Glod4 |
T |
A |
11: 76,130,376 (GRCm39) |
K36* |
probably null |
Het |
Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,165,591 (GRCm39) |
C330R |
probably damaging |
Het |
Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
Tdp1 |
A |
T |
12: 99,881,704 (GRCm39) |
|
probably benign |
Het |
Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,854,686 (GRCm39) |
S689P |
probably damaging |
Het |
Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
probably damaging |
Het |
|
Other mutations in Ripor2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R7417:Ripor2
|
UTSW |
13 |
24,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-06-21 |