Incidental Mutation 'IGL02145:Ripor2'
| ID |
281732 |
| 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 # |
IGL02145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24901554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 875
(I875N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110383]
[ENSMUST00000110384]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110383
AA Change: I850N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: I850N
| 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: I875N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: I875N
| 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 |
noncoding transcript
Transcript: ENSMUST00000177489
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
A |
G |
8: 125,291,187 (GRCm39) |
L40P |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,980,219 (GRCm39) |
I501T |
probably benign |
Het |
| Aldh2 |
A |
G |
5: 121,706,056 (GRCm39) |
*196Q |
probably null |
Het |
| Ankrd65 |
A |
G |
4: 155,875,848 (GRCm39) |
D23G |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,250,292 (GRCm39) |
|
probably null |
Het |
| Armc3 |
C |
T |
2: 19,301,671 (GRCm39) |
S663L |
possibly damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Cul5 |
A |
T |
9: 53,546,375 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
C |
8: 123,151,796 (GRCm39) |
I134V |
probably damaging |
Het |
| Cybb |
T |
A |
X: 9,323,257 (GRCm39) |
Q93H |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,849,009 (GRCm39) |
K292N |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,281,981 (GRCm39) |
I2850V |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,485,367 (GRCm39) |
I118T |
unknown |
Het |
| Ercc6l |
G |
T |
X: 101,189,148 (GRCm39) |
P454T |
probably benign |
Het |
| Grxcr1 |
A |
G |
5: 68,267,821 (GRCm39) |
E190G |
probably damaging |
Het |
| Heatr3 |
C |
T |
8: 88,871,227 (GRCm39) |
R194C |
probably benign |
Het |
| Hspa12b |
C |
T |
2: 130,985,655 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,642,777 (GRCm39) |
V644A |
probably damaging |
Het |
| Kif26a |
G |
A |
12: 112,143,409 (GRCm39) |
R1221H |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,199 (GRCm39) |
N79D |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,900,661 (GRCm39) |
I253T |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,901,509 (GRCm39) |
V111A |
possibly damaging |
Het |
| Lmo7 |
T |
C |
14: 102,139,659 (GRCm39) |
S859P |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,453 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,975,848 (GRCm39) |
Y315H |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,433,486 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,274 (GRCm39) |
D206G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,373,715 (GRCm39) |
S498P |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,109,328 (GRCm39) |
|
probably null |
Het |
| Or14c46 |
C |
A |
7: 85,918,466 (GRCm39) |
C177F |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,886 (GRCm39) |
Y120H |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,317,613 (GRCm39) |
H1278R |
probably damaging |
Het |
| Pprc1 |
C |
A |
19: 46,053,329 (GRCm39) |
|
probably benign |
Het |
| Rab8b |
A |
T |
9: 66,755,000 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,374,105 (GRCm39) |
E1052G |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,520,569 (GRCm39) |
I569F |
probably damaging |
Het |
| Spata2l |
C |
T |
8: 123,960,770 (GRCm39) |
G173D |
possibly damaging |
Het |
| Stc2 |
T |
G |
11: 31,317,875 (GRCm39) |
|
probably benign |
Het |
| Tm6sf1 |
C |
A |
7: 81,513,000 (GRCm39) |
Y65* |
probably null |
Het |
| Tspan15 |
A |
G |
10: 62,029,751 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,454 (GRCm39) |
Y179* |
probably null |
Het |
| Washc5 |
C |
A |
15: 59,241,060 (GRCm39) |
V92L |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,893 (GRCm39) |
S838P |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,739,074 (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 |
|
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 |
2015-04-16 |
Incidental Mutation