Incidental Mutation 'IGL02852:Ripor2'
| ID |
361947 |
| 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 # |
IGL02852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24879681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 383
(F383S)
|
| 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: F383S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: F383S
| 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 damaging
Transcript: ENSMUST00000058009
AA Change: F383S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: F383S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: F386S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: F386S
| 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: F358S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: F358S
| 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: F383S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: F383S
| 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: ENSMUST00000175986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138547
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar1 |
A |
T |
8: 112,441,979 (GRCm39) |
L287* |
probably null |
Het |
| Birc2 |
A |
G |
9: 7,854,484 (GRCm39) |
I402T |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,501,095 (GRCm39) |
L153* |
probably null |
Het |
| C2cd3 |
T |
C |
7: 100,079,396 (GRCm39) |
F1245L |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,688,912 (GRCm39) |
R186H |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,298 (GRCm39) |
S348P |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,701,754 (GRCm39) |
Y120C |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,104 (GRCm39) |
D544G |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,661,272 (GRCm39) |
I279S |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,945,728 (GRCm39) |
T3562S |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,135 (GRCm39) |
S61P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,722,320 (GRCm39) |
M266K |
possibly damaging |
Het |
| Gm14226 |
G |
A |
2: 154,866,841 (GRCm39) |
S266N |
possibly damaging |
Het |
| Gm28047 |
A |
G |
15: 102,446,653 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,691 (GRCm39) |
D499G |
probably benign |
Het |
| Hoxb7 |
C |
T |
11: 96,180,320 (GRCm39) |
T173M |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,516,923 (GRCm39) |
I444N |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,375,785 (GRCm39) |
I27T |
probably damaging |
Het |
| Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,863,377 (GRCm39) |
V2154I |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,150 (GRCm39) |
D372G |
probably damaging |
Het |
| Pfkp |
G |
T |
13: 6,655,059 (GRCm39) |
P340Q |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 102,964,631 (GRCm39) |
R580Q |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Ppara |
G |
T |
15: 85,682,079 (GRCm39) |
M258I |
probably benign |
Het |
| Proc |
A |
G |
18: 32,258,208 (GRCm39) |
S246P |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
T |
C |
17: 37,256,094 (GRCm39) |
|
probably benign |
Het |
| Sema6c |
C |
A |
3: 95,077,295 (GRCm39) |
|
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,405 (GRCm39) |
E196G |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,493,550 (GRCm39) |
L313* |
probably null |
Het |
| Slit2 |
T |
C |
5: 48,402,014 (GRCm39) |
F789S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,071,676 (GRCm39) |
M2219V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,197,920 (GRCm39) |
H380L |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,743,561 (GRCm39) |
Y859H |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,148,595 (GRCm39) |
T56S |
possibly damaging |
Het |
| Ttc23 |
T |
A |
7: 67,316,903 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,774,648 (GRCm39) |
|
probably benign |
Het |
| Uba1y |
C |
T |
Y: 828,841 (GRCm39) |
R550* |
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,462,778 (GRCm39) |
V81A |
probably damaging |
Het |
| Ugt2b38 |
C |
T |
5: 87,559,600 (GRCm39) |
E431K |
probably benign |
Het |
| Vmn1r85 |
T |
G |
7: 12,819,010 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,882,595 (GRCm39) |
S386R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,419,173 (GRCm39) |
T902A |
possibly damaging |
Het |
| Zc3h15 |
G |
A |
2: 83,475,015 (GRCm39) |
A7T |
possibly damaging |
Het |
| Zdhhc19 |
A |
C |
16: 32,316,460 (GRCm39) |
T72P |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,070 (GRCm39) |
S720T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,942 (GRCm39) |
K441R |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation