Incidental Mutation 'IGL02351:Ripor2'
ID |
289471 |
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 # |
IGL02351
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24915572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1047
(E1047D)
|
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: E1022D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: E1022D
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: E1047D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: E1047D
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,474,418 (GRCm39) |
T448A |
possibly damaging |
Het |
Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,001,497 (GRCm39) |
L552P |
probably damaging |
Het |
Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
Skap1 |
T |
A |
11: 96,599,382 (GRCm39) |
|
probably null |
Het |
Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,787,002 (GRCm39) |
Q35L |
probably benign |
Het |
Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
Zfp57 |
G |
A |
17: 37,320,919 (GRCm39) |
V258I |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,909,026 (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 |
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 |