Incidental Mutation 'R9079:Ripor2'
| ID |
689910 |
| 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 |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R9079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24915637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1069
(R1069H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110383]
[ENSMUST00000110384]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110383
AA Change: R1044H
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: R1044H
| 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: R1069H
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: R1069H
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
T |
15: 57,989,223 (GRCm39) |
S212R |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,112,816 (GRCm39) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,598,153 (GRCm39) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,906,197 (GRCm39) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,564,541 (GRCm39) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,781,859 (GRCm39) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,291,914 (GRCm39) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,003,177 (GRCm39) |
D549E |
unknown |
Het |
| Extl1 |
T |
A |
4: 134,089,975 (GRCm39) |
N378Y |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 3,998,388 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
C |
A |
3: 85,579,590 (GRCm39) |
G872* |
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 85,453,412 (GRCm39) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,272,502 (GRCm39) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,232,858 (GRCm39) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,923,190 (GRCm39) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,455,816 (GRCm39) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,898 (GRCm39) |
E158A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,277,738 (GRCm39) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,558,151 (GRCm39) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,593 (GRCm39) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,235,473 (GRCm39) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,867,308 (GRCm39) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,465,174 (GRCm39) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,383,033 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,430 (GRCm39) |
E440D |
possibly damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,989 (GRCm39) |
V255A |
probably damaging |
Het |
| Or6c207 |
A |
T |
10: 129,104,466 (GRCm39) |
M242K |
possibly damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,731 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,750,769 (GRCm39) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 108,920,644 (GRCm39) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,039,053 (GRCm39) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,537 (GRCm39) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,393 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
A |
C |
1: 143,641,519 (GRCm39) |
L314R |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,787,718 (GRCm39) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,484,241 (GRCm39) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,042,150 (GRCm39) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,677,454 (GRCm39) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm39) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,950,966 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,733,023 (GRCm39) |
I2953V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,632,734 (GRCm39) |
F14107L |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,895,120 (GRCm39) |
|
probably benign |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,979 (GRCm39) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,602 (GRCm39) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,640 (GRCm39) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,076,403 (GRCm39) |
W45R |
|
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 |
|
|
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'- GCGTTGCCTAGAAACCCATAATC -3'
(R):5'- CAGTGCAATTGGACTTGGAC -3'
Sequencing Primer
(F):5'- ACATACATGAGGGTCTGGGTTCAATC -3'
(R):5'- CAGTGCAATTGGACTTGGACATCTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation