Incidental Mutation 'R8465:Ripor2'
ID |
660815 |
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 |
067909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R8465 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 24849451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(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 |
unknown
Transcript: ENSMUST00000132689
AA Change: S40T
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (80/80) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot6 |
A |
T |
12: 84,153,215 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
A |
T |
7: 82,247,330 (GRCm39) |
N1429Y |
probably benign |
Het |
Adk |
T |
C |
14: 21,153,892 (GRCm39) |
S32P |
possibly damaging |
Het |
Akap13 |
A |
T |
7: 75,376,786 (GRCm39) |
M2005L |
probably benign |
Het |
Atp10a |
A |
T |
7: 58,478,058 (GRCm39) |
D1367V |
probably benign |
Het |
Bckdhb |
A |
G |
9: 83,870,915 (GRCm39) |
I142V |
probably benign |
Het |
Brap |
C |
T |
5: 121,817,358 (GRCm39) |
Q322* |
probably null |
Het |
Carmil3 |
A |
T |
14: 55,734,305 (GRCm39) |
N401I |
probably damaging |
Het |
Cdan1 |
A |
T |
2: 120,558,921 (GRCm39) |
S426T |
possibly damaging |
Het |
Cdc27 |
C |
A |
11: 104,408,317 (GRCm39) |
S531I |
probably benign |
Het |
Cela3a |
A |
T |
4: 137,131,185 (GRCm39) |
Y184* |
probably null |
Het |
Cep63 |
T |
C |
9: 102,490,576 (GRCm39) |
K178R |
probably benign |
Het |
Cfb |
G |
A |
17: 35,076,290 (GRCm39) |
Q152* |
probably null |
Het |
Cnpy2 |
G |
A |
10: 128,162,044 (GRCm39) |
V106I |
probably benign |
Het |
Cntn1 |
GCTGTCTTC |
GC |
15: 92,237,404 (GRCm39) |
|
probably null |
Het |
Ctc1 |
G |
A |
11: 68,917,045 (GRCm39) |
G67D |
probably damaging |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Cyp2d12 |
T |
G |
15: 82,439,378 (GRCm39) |
S11A |
possibly damaging |
Het |
Ddx55 |
T |
A |
5: 124,697,184 (GRCm39) |
|
probably null |
Het |
Dedd2 |
G |
T |
7: 24,918,331 (GRCm39) |
R75S |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,147,530 (GRCm39) |
S3904F |
possibly damaging |
Het |
Fibp |
G |
A |
19: 5,513,215 (GRCm39) |
V177I |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,810,284 (GRCm39) |
E2201V |
probably benign |
Het |
Gbp11 |
C |
T |
5: 105,472,928 (GRCm39) |
D499N |
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,339,032 (GRCm39) |
E45G |
probably damaging |
Het |
H2-D1 |
A |
G |
17: 35,482,487 (GRCm39) |
Y69C |
probably damaging |
Het |
Hcar1 |
A |
G |
5: 124,017,109 (GRCm39) |
F194S |
probably damaging |
Het |
Heatr4 |
A |
T |
12: 84,024,707 (GRCm39) |
|
probably null |
Het |
Kcnd2 |
G |
A |
6: 21,216,695 (GRCm39) |
C133Y |
probably damaging |
Het |
Kcnq1 |
A |
T |
7: 142,979,711 (GRCm39) |
Q619L |
probably benign |
Het |
Kctd12 |
T |
A |
14: 103,218,901 (GRCm39) |
R326W |
probably damaging |
Het |
Kel |
A |
G |
6: 41,666,472 (GRCm39) |
|
probably null |
Het |
Lipk |
A |
T |
19: 34,024,197 (GRCm39) |
I332F |
probably benign |
Het |
Lrrc37 |
T |
A |
11: 103,506,947 (GRCm39) |
|
probably benign |
Het |
Masp2 |
A |
G |
4: 148,696,516 (GRCm39) |
D371G |
possibly damaging |
Het |
Met |
A |
G |
6: 17,571,809 (GRCm39) |
E1376G |
probably benign |
Het |
Mup5 |
A |
T |
4: 61,752,015 (GRCm39) |
I78K |
probably benign |
Het |
Mynn |
A |
T |
3: 30,670,790 (GRCm39) |
D526V |
probably damaging |
Het |
Naip6 |
G |
T |
13: 100,433,423 (GRCm39) |
T1138N |
possibly damaging |
Het |
Neurod1 |
G |
T |
2: 79,284,696 (GRCm39) |
P229Q |
probably damaging |
Het |
Npepps |
T |
G |
11: 97,139,085 (GRCm39) |
R162S |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,112,631 (GRCm39) |
Q175L |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,480,032 (GRCm39) |
T310A |
probably damaging |
Het |
Or4g7 |
A |
T |
2: 111,309,425 (GRCm39) |
T99S |
probably benign |
Het |
Or8c9 |
A |
T |
9: 38,241,410 (GRCm39) |
I176F |
possibly damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,975 (GRCm39) |
M15K |
probably benign |
Het |
Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
Pigf |
G |
A |
17: 87,304,964 (GRCm39) |
T193I |
possibly damaging |
Het |
Pkp4 |
T |
C |
2: 59,172,525 (GRCm39) |
V904A |
possibly damaging |
Het |
Plekha6 |
C |
T |
1: 133,197,778 (GRCm39) |
T141M |
probably damaging |
Het |
Rapgef6 |
G |
A |
11: 54,582,308 (GRCm39) |
D1407N |
probably benign |
Het |
Rhobtb3 |
T |
C |
13: 76,087,741 (GRCm39) |
D82G |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,498,731 (GRCm39) |
N767S |
possibly damaging |
Het |
Sec14l4 |
T |
A |
11: 3,993,948 (GRCm39) |
I296N |
probably damaging |
Het |
Serpinb12 |
G |
T |
1: 106,884,342 (GRCm39) |
V363F |
probably damaging |
Het |
Serpinb9c |
A |
G |
13: 33,334,016 (GRCm39) |
I342T |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,355,945 (GRCm39) |
V133A |
probably damaging |
Het |
Slc30a6 |
A |
G |
17: 74,722,661 (GRCm39) |
M243V |
probably benign |
Het |
Slfn2 |
T |
A |
11: 82,960,487 (GRCm39) |
N155K |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,152,298 (GRCm39) |
L23M |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,900,898 (GRCm39) |
D19V |
possibly damaging |
Het |
Tcl1b3 |
A |
T |
12: 105,160,736 (GRCm39) |
I116L |
probably benign |
Het |
Tcp11 |
A |
G |
17: 28,286,766 (GRCm39) |
I411T |
probably damaging |
Het |
Tctn1 |
C |
T |
5: 122,379,859 (GRCm39) |
A560T |
probably benign |
Het |
Tenm3 |
C |
A |
8: 48,682,216 (GRCm39) |
Q2471H |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,713,645 (GRCm39) |
D691G |
probably benign |
Het |
Ube3b |
C |
T |
5: 114,528,451 (GRCm39) |
P150S |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,518 (GRCm39) |
I216M |
possibly damaging |
Het |
Unc5d |
T |
A |
8: 29,156,877 (GRCm39) |
R789S |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,147,875 (GRCm39) |
G934D |
probably damaging |
Het |
Usp6nl |
A |
T |
2: 6,399,352 (GRCm39) |
R70S |
probably damaging |
Het |
Vmn1r181 |
T |
C |
7: 23,684,309 (GRCm39) |
I258T |
possibly damaging |
Het |
Vmn2r15 |
C |
A |
5: 109,445,302 (GRCm39) |
D41Y |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,600,691 (GRCm39) |
I663N |
probably damaging |
Het |
Vnn3 |
C |
A |
10: 23,741,780 (GRCm39) |
Q362K |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,059,730 (GRCm39) |
D380G |
possibly damaging |
Het |
Wfdc10 |
G |
A |
2: 164,499,180 (GRCm39) |
E97K |
possibly damaging |
Het |
Xdh |
A |
T |
17: 74,206,007 (GRCm39) |
C1002* |
probably null |
Het |
Zscan4e |
A |
C |
7: 11,041,578 (GRCm39) |
V126G |
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 |
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 |
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'- GTCCATGTGAATGTGCGTGC -3'
(R):5'- GTTGTGCTCCAAGACTGTGTAATC -3'
Sequencing Primer
(F):5'- CATGTATGCGTGCATGGAAATG -3'
(R):5'- GCTCCAAGACTGTGTAATCTGCTC -3'
|
Posted On |
2021-03-05 |