Incidental Mutation 'IGL02377:Ripor2'
| ID |
291204 |
| 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: 0.248)
|
| Stock # |
IGL02377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 24879549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[ENSMUST00000058009]
[ENSMUST00000091694]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000132689]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038477
|
| SMART Domains |
Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
| 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 benign
Transcript: ENSMUST00000110383
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175986
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,937,689 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,965,133 (GRCm39) |
|
probably benign |
Het |
| App |
T |
C |
16: 84,879,719 (GRCm39) |
Q138R |
probably benign |
Het |
| Asah2 |
T |
A |
19: 31,986,814 (GRCm39) |
I529F |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,356,128 (GRCm39) |
S1195P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,149 (GRCm39) |
M134T |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 135,996,732 (GRCm39) |
L111P |
probably damaging |
Het |
| Capns2 |
A |
T |
8: 93,628,215 (GRCm39) |
N35Y |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,798,415 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
G |
T |
16: 38,153,181 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
G |
T |
18: 61,257,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,313,930 (GRCm39) |
I131F |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,817,007 (GRCm39) |
Y326F |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 31,013,770 (GRCm39) |
V3837A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,562,711 (GRCm39) |
|
probably null |
Het |
| Emg1 |
A |
G |
6: 124,681,620 (GRCm39) |
V208A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,727,282 (GRCm39) |
D1280V |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,868,691 (GRCm39) |
D911G |
unknown |
Het |
| Fam171a1 |
T |
C |
2: 3,224,623 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,806,395 (GRCm39) |
V2121A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,511,714 (GRCm39) |
|
probably benign |
Het |
| Fignl1 |
G |
T |
11: 11,752,845 (GRCm39) |
T70K |
possibly damaging |
Het |
| Fndc3b |
T |
C |
3: 27,674,801 (GRCm39) |
E47G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,385 (GRCm39) |
K189E |
possibly damaging |
Het |
| Hpse |
T |
A |
5: 100,839,199 (GRCm39) |
Y383F |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,681,798 (GRCm39) |
L197P |
probably damaging |
Het |
| Klf1 |
A |
C |
8: 85,631,561 (GRCm39) |
H375P |
probably damaging |
Het |
| Krtap6-5 |
T |
A |
16: 88,844,734 (GRCm39) |
|
probably benign |
Het |
| Lacc1 |
A |
T |
14: 77,267,055 (GRCm39) |
S403T |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,689,807 (GRCm39) |
I2850V |
possibly damaging |
Het |
| Lats2 |
C |
T |
14: 57,929,052 (GRCm39) |
R941Q |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,284,290 (GRCm39) |
Y430N |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,850,743 (GRCm39) |
H1103L |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,365 (GRCm39) |
M1I |
probably null |
Het |
| Magee2 |
A |
T |
X: 103,900,399 (GRCm39) |
V84D |
possibly damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,602 (GRCm39) |
V281I |
possibly damaging |
Het |
| Mycbpap |
A |
G |
11: 94,394,076 (GRCm39) |
V340A |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,181,775 (GRCm39) |
M1842K |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,906,130 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nfkbid |
C |
T |
7: 30,124,689 (GRCm39) |
Q160* |
probably null |
Het |
| Or11h6 |
T |
A |
14: 50,879,975 (GRCm39) |
|
probably null |
Het |
| Or2y1d |
A |
T |
11: 49,321,859 (GRCm39) |
K185N |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,475,630 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or7e168 |
C |
T |
9: 19,720,343 (GRCm39) |
S243F |
probably damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,542 (GRCm39) |
T122S |
probably damaging |
Het |
| Or9q2 |
T |
G |
19: 13,772,693 (GRCm39) |
Q94P |
possibly damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,213,404 (GRCm39) |
Q916P |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,050,743 (GRCm39) |
Q174R |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,321 (GRCm39) |
S970P |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,102,667 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,955,952 (GRCm39) |
V165A |
possibly damaging |
Het |
| Rdh10 |
G |
A |
1: 16,176,438 (GRCm39) |
W66* |
probably null |
Het |
| Slc35g1 |
T |
A |
19: 38,391,678 (GRCm39) |
M320K |
possibly damaging |
Het |
| Slc9a7 |
A |
G |
X: 20,068,963 (GRCm39) |
Y197H |
probably damaging |
Het |
| Smn1 |
T |
C |
13: 100,272,192 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
G |
A |
6: 24,796,696 (GRCm39) |
G216S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,068,194 (GRCm39) |
N114I |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,069,491 (GRCm39) |
V1615D |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc2 |
T |
A |
X: 40,914,355 (GRCm39) |
Q1005H |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,652,742 (GRCm39) |
R189Q |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,983,685 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,882,934 (GRCm39) |
H886Q |
probably damaging |
Het |
| Zfp157 |
G |
A |
5: 138,445,859 (GRCm39) |
W71* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation