Incidental Mutation 'R9355:Ripor2'
ID |
708370 |
Institutional Source |
Beutler Lab
|
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 # |
R9355 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24885694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 643
(H643R)
|
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
AA Change: H643R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: H643R
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
AA Change: H604R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: H604R
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
AA Change: H618R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: H618R
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
AA Change: H643R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: H643R
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
A |
G |
7: 140,681,817 (GRCm39) |
V747A |
probably benign |
Het |
Arfgef1 |
G |
A |
1: 10,270,000 (GRCm39) |
P383L |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,849,630 (GRCm39) |
E407G |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,511,721 (GRCm39) |
L1188F |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,636,980 (GRCm39) |
P179S |
possibly damaging |
Het |
Bcl9l |
G |
A |
9: 44,419,000 (GRCm39) |
R983H |
probably benign |
Het |
Bmp2k |
T |
A |
5: 97,211,366 (GRCm39) |
Y511* |
probably null |
Het |
C1galt1 |
G |
T |
6: 7,866,474 (GRCm39) |
V107F |
probably damaging |
Het |
Car3 |
T |
A |
3: 14,928,664 (GRCm39) |
N11K |
|
Het |
Ccdc170 |
A |
G |
10: 4,508,695 (GRCm39) |
R640G |
probably benign |
Het |
Cep126 |
A |
G |
9: 8,100,038 (GRCm39) |
V832A |
possibly damaging |
Het |
Ces1h |
C |
T |
8: 94,101,149 (GRCm39) |
V49I |
|
Het |
Clasp2 |
T |
A |
9: 113,664,309 (GRCm39) |
V310D |
probably damaging |
Het |
Comp |
C |
T |
8: 70,828,699 (GRCm39) |
T177M |
probably benign |
Het |
Coro1c |
T |
C |
5: 114,003,726 (GRCm39) |
S98G |
probably damaging |
Het |
Cpa6 |
C |
T |
1: 10,479,520 (GRCm39) |
V238I |
probably benign |
Het |
Crebrf |
T |
C |
17: 26,962,094 (GRCm39) |
F397S |
probably damaging |
Het |
Dcpp1 |
C |
A |
17: 24,099,987 (GRCm39) |
Q3K |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,543,144 (GRCm39) |
D533G |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,844,114 (GRCm39) |
S551T |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,253,890 (GRCm39) |
E524G |
probably damaging |
Het |
Epha7 |
A |
G |
4: 28,935,806 (GRCm39) |
Y476C |
probably damaging |
Het |
Erich5 |
G |
T |
15: 34,471,001 (GRCm39) |
V77F |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,036,047 (GRCm39) |
Y3233C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,716 (GRCm39) |
V521E |
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm5624 |
A |
T |
14: 44,799,272 (GRCm39) |
L95* |
probably null |
Het |
Gphn |
A |
G |
12: 78,538,968 (GRCm39) |
T205A |
probably damaging |
Het |
Grik5 |
C |
A |
7: 24,767,597 (GRCm39) |
A28S |
possibly damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,120 (GRCm39) |
S300P |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,723 (GRCm39) |
L227P |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,328,302 (GRCm39) |
M4328L |
probably benign |
Het |
Htt |
A |
T |
5: 35,053,247 (GRCm39) |
M2527L |
probably benign |
Het |
Impdh2 |
A |
T |
9: 108,442,402 (GRCm39) |
H466L |
probably benign |
Het |
Itgae |
G |
A |
11: 73,006,906 (GRCm39) |
G384D |
probably damaging |
Het |
Krt90 |
T |
C |
15: 101,461,714 (GRCm39) |
S496G |
unknown |
Het |
Krtap5-5 |
A |
G |
7: 141,783,114 (GRCm39) |
S179P |
unknown |
Het |
Lif |
C |
T |
11: 4,219,044 (GRCm39) |
R63W |
probably damaging |
Het |
Lrrc10 |
T |
C |
10: 116,881,881 (GRCm39) |
V185A |
probably damaging |
Het |
Lrrc27 |
A |
C |
7: 138,822,648 (GRCm39) |
Q513P |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Map2k3 |
T |
C |
11: 60,823,055 (GRCm39) |
S3P |
possibly damaging |
Het |
Mc2r |
T |
C |
18: 68,541,195 (GRCm39) |
T33A |
probably benign |
Het |
Mefv |
T |
A |
16: 3,525,882 (GRCm39) |
D795V |
probably damaging |
Het |
Megf6 |
A |
T |
4: 154,338,282 (GRCm39) |
R451W |
probably damaging |
Het |
Mrpl21 |
G |
A |
19: 3,336,937 (GRCm39) |
V103M |
probably damaging |
Het |
Mtmr14 |
GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC |
GCCGCCGCCTC |
6: 113,214,948 (GRCm39) |
|
probably null |
Het |
Myom1 |
T |
C |
17: 71,384,888 (GRCm39) |
S760P |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,403,246 (GRCm39) |
Y451C |
probably damaging |
Het |
Nkain4 |
T |
C |
2: 180,577,775 (GRCm39) |
N193S |
possibly damaging |
Het |
Opa1 |
T |
A |
16: 29,432,807 (GRCm39) |
L490H |
probably damaging |
Het |
Opcml |
A |
C |
9: 28,814,650 (GRCm39) |
I301L |
probably benign |
Het |
Or10ak16 |
G |
A |
4: 118,750,784 (GRCm39) |
S168N |
probably benign |
Het |
Or1e33 |
A |
G |
11: 73,738,643 (GRCm39) |
F103L |
probably damaging |
Het |
Or4p23 |
A |
T |
2: 88,576,749 (GRCm39) |
I161N |
probably damaging |
Het |
Or52s19 |
T |
C |
7: 103,008,125 (GRCm39) |
H92R |
probably benign |
Het |
Pabpc1l |
T |
C |
2: 163,884,469 (GRCm39) |
L402P |
probably benign |
Het |
Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
Peak1 |
G |
T |
9: 56,167,454 (GRCm39) |
A158E |
probably damaging |
Het |
Ppfibp2 |
C |
T |
7: 107,322,169 (GRCm39) |
P406L |
probably benign |
Het |
Qpctl |
T |
C |
7: 18,875,146 (GRCm39) |
H362R |
probably damaging |
Het |
Scn11a |
A |
T |
9: 119,584,160 (GRCm39) |
L1485Q |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,594,433 (GRCm39) |
I1761F |
probably damaging |
Het |
Scrn3 |
A |
G |
2: 73,166,077 (GRCm39) |
D370G |
probably benign |
Het |
Sec24b |
A |
T |
3: 129,787,489 (GRCm39) |
F877Y |
possibly damaging |
Het |
Slc35f3 |
T |
C |
8: 127,108,967 (GRCm39) |
I172T |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,622,544 (GRCm39) |
|
probably null |
Het |
Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
Sos1 |
T |
A |
17: 80,722,479 (GRCm39) |
I856F |
possibly damaging |
Het |
Sp2 |
A |
T |
11: 96,852,231 (GRCm39) |
L231H |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,318,255 (GRCm39) |
Y457C |
probably damaging |
Het |
Tdpoz6 |
T |
C |
3: 93,600,307 (GRCm39) |
T21A |
possibly damaging |
Het |
Tekt5 |
T |
C |
16: 10,213,268 (GRCm39) |
T6A |
possibly damaging |
Het |
Tln2 |
G |
T |
9: 67,262,529 (GRCm39) |
T574K |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,633,821 (GRCm39) |
S313P |
probably damaging |
Het |
Trmt12 |
G |
A |
15: 58,744,824 (GRCm39) |
C74Y |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,649,473 (GRCm39) |
D561G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,700,769 (GRCm39) |
V62A |
|
Het |
Tubgcp5 |
T |
C |
7: 55,467,177 (GRCm39) |
|
probably null |
Het |
Unc13a |
C |
T |
8: 72,098,375 (GRCm39) |
V1137M |
possibly damaging |
Het |
Zfp729a |
A |
G |
13: 67,767,515 (GRCm39) |
C905R |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,602,362 (GRCm39) |
I435M |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,955,687 (GRCm39) |
G271W |
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 |
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 |
R9655:Ripor2
|
UTSW |
13 |
24,908,983 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGGTGAAGAGGCTCAC -3'
(R):5'- ACTCCTAATCCATTTAGCTAAGCTG -3'
Sequencing Primer
(F):5'- AGGCTCACCTCGGCTGAG -3'
(R):5'- CCTGTGACAGGACAAGATT -3'
|
Posted On |
2022-04-18 |