Incidental Mutation 'R0731:Ripor2'
ID |
67586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ripor2
|
Ensembl Gene |
ENSMUSG00000036006 |
Gene Name |
RHO family interacting cell polarization regulator 2 |
Synonyms |
1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik |
MMRRC Submission |
038912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R0731 (G1)
|
Quality Score |
188 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24864627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 219
(E219V)
|
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: E219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: E219V
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: E219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051342 Gene: ENSMUSG00000036006 AA Change: E219V
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: E222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: E222V
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: E194V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: E194V
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: E219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: E219V
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: ENSMUST00000177174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138547
|
Meta Mutation Damage Score |
0.9405 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
97% (73/75) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
T |
7: 119,367,247 (GRCm39) |
R27* |
probably null |
Het |
Actg1 |
A |
G |
11: 120,237,775 (GRCm39) |
F255S |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,790,262 (GRCm39) |
V501E |
possibly damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,461 (GRCm39) |
D1444E |
probably damaging |
Het |
Btaf1 |
T |
G |
19: 36,974,895 (GRCm39) |
|
probably null |
Het |
Cacnb2 |
A |
G |
2: 14,990,517 (GRCm39) |
H489R |
possibly damaging |
Het |
Ccdc162 |
C |
A |
10: 41,455,139 (GRCm39) |
K398N |
probably damaging |
Het |
Cd79b |
G |
T |
11: 106,203,259 (GRCm39) |
S145R |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,394,651 (GRCm39) |
N264Y |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,785,798 (GRCm39) |
D2892G |
probably benign |
Het |
Chuk |
A |
G |
19: 44,092,205 (GRCm39) |
|
probably benign |
Het |
Clk3 |
T |
C |
9: 57,658,409 (GRCm39) |
|
probably benign |
Het |
Dcaf8 |
A |
T |
1: 172,000,076 (GRCm39) |
D78V |
possibly damaging |
Het |
Dctn1 |
A |
G |
6: 83,160,071 (GRCm39) |
T87A |
probably damaging |
Het |
Ddx50 |
T |
C |
10: 62,452,028 (GRCm39) |
N732D |
unknown |
Het |
Dnah5 |
A |
T |
15: 28,311,289 (GRCm39) |
Y1756F |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,847,055 (GRCm39) |
V858E |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,865,990 (GRCm39) |
F1566S |
probably benign |
Het |
Fpr-rs7 |
T |
C |
17: 20,334,116 (GRCm39) |
I125V |
probably benign |
Het |
Fuca2 |
C |
T |
10: 13,381,771 (GRCm39) |
P228L |
probably benign |
Het |
Galntl6 |
A |
G |
8: 58,989,018 (GRCm39) |
F57L |
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,335,449 (GRCm39) |
|
probably benign |
Het |
Gm16505 |
A |
T |
13: 3,411,329 (GRCm39) |
|
noncoding transcript |
Het |
Gm4781 |
T |
C |
10: 100,232,639 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
A |
10: 56,621,639 (GRCm39) |
Y100* |
probably null |
Het |
Gpr137c |
T |
A |
14: 45,483,806 (GRCm39) |
C178S |
probably damaging |
Het |
Gpr83 |
A |
G |
9: 14,779,940 (GRCm39) |
R331G |
probably benign |
Het |
Hlcs |
T |
A |
16: 93,932,711 (GRCm39) |
H851L |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,476,107 (GRCm39) |
S615G |
probably benign |
Het |
Kbtbd6 |
C |
A |
14: 79,689,324 (GRCm39) |
Y6* |
probably null |
Het |
Kif23 |
T |
C |
9: 61,832,314 (GRCm39) |
R610G |
possibly damaging |
Het |
Kifc3 |
G |
A |
8: 95,832,361 (GRCm39) |
T487I |
probably damaging |
Het |
Klra5 |
A |
C |
6: 129,885,759 (GRCm39) |
D133E |
possibly damaging |
Het |
Klra6 |
T |
C |
6: 129,999,668 (GRCm39) |
E100G |
probably damaging |
Het |
Klre1 |
T |
A |
6: 129,562,531 (GRCm39) |
|
probably benign |
Het |
Lancl1 |
C |
T |
1: 67,049,069 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,228,167 (GRCm39) |
I146V |
possibly damaging |
Het |
Map4k5 |
T |
A |
12: 69,921,038 (GRCm39) |
|
probably benign |
Het |
Mast3 |
A |
G |
8: 71,233,965 (GRCm39) |
S178P |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,476,262 (GRCm39) |
|
probably null |
Het |
Mgat4f |
A |
C |
1: 134,317,713 (GRCm39) |
M162L |
probably benign |
Het |
Mkrn2 |
A |
T |
6: 115,591,612 (GRCm39) |
N312Y |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,093,359 (GRCm39) |
E150G |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,094,878 (GRCm39) |
|
probably null |
Het |
Nyap1 |
A |
G |
5: 137,733,560 (GRCm39) |
V491A |
probably damaging |
Het |
Or10a3 |
A |
T |
7: 108,480,740 (GRCm39) |
N24K |
probably damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,638 (GRCm39) |
M98V |
probably damaging |
Het |
Or5p60 |
T |
C |
7: 107,723,941 (GRCm39) |
I176M |
probably benign |
Het |
Or8g34 |
T |
C |
9: 39,372,828 (GRCm39) |
F34L |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,240,893 (GRCm38) |
H385Q |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,892,590 (GRCm39) |
S242P |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,017,744 (GRCm39) |
Y675C |
probably damaging |
Het |
Pnkd |
T |
A |
1: 74,390,700 (GRCm39) |
H266Q |
probably damaging |
Het |
Rbfox2 |
A |
G |
15: 76,983,479 (GRCm39) |
S141P |
probably benign |
Het |
Rdx |
A |
G |
9: 51,979,518 (GRCm39) |
T214A |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,422,065 (GRCm39) |
T66A |
probably damaging |
Het |
Rufy2 |
G |
A |
10: 62,847,623 (GRCm39) |
|
probably benign |
Het |
Slf2 |
T |
A |
19: 44,964,165 (GRCm39) |
|
probably benign |
Het |
Snrnp200 |
G |
T |
2: 127,068,065 (GRCm39) |
|
probably benign |
Het |
Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
Tacr3 |
G |
A |
3: 134,560,761 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
C |
T |
18: 42,704,905 (GRCm39) |
T978M |
probably damaging |
Het |
Tcf7l1 |
G |
T |
6: 72,765,252 (GRCm39) |
P126Q |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,194,556 (GRCm39) |
D860G |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,281,301 (GRCm39) |
L81P |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,024,476 (GRCm39) |
|
probably benign |
Het |
Ugt2b38 |
G |
A |
5: 87,568,311 (GRCm39) |
A328V |
probably damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,096,991 (GRCm39) |
R444S |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,246,537 (GRCm39) |
T875A |
probably benign |
Het |
Zfp11 |
A |
G |
5: 129,734,328 (GRCm39) |
S378P |
probably damaging |
Het |
Zfp984 |
T |
A |
4: 147,840,689 (GRCm39) |
N54I |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAACTTGTCCACCTAAGCCCCAG -3'
(R):5'- ACCATTTTCAAATGCGAAGGCAAGG -3'
Sequencing Primer
(F):5'- TATCCCATGCACCCGGAG -3'
(R):5'- AAGGTACAAGAAGAGACCCATC -3'
|
Posted On |
2013-09-03 |