Incidental Mutation 'R6908:Ripor2'
| ID |
538883 |
| 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 |
045000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R6908 (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 24890215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 697
(G697S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[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: 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 damaging
Transcript: ENSMUST00000110383
AA Change: G672S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: G672S
| 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: G697S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: G697S
| 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: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
95% (52/55) |
| 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 |
|---|
| Abi3bp |
T |
C |
16: 56,477,668 (GRCm39) |
I1197T |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
| B3glct |
T |
C |
5: 149,619,941 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
G |
9: 22,479,019 (GRCm39) |
I154S |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,780,371 (GRCm39) |
|
probably null |
Het |
| Celf6 |
T |
C |
9: 59,511,106 (GRCm39) |
V349A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,683,044 (GRCm39) |
T495A |
probably benign |
Het |
| Cxxc1 |
G |
A |
18: 74,353,630 (GRCm39) |
C546Y |
probably damaging |
Het |
| Cxxc5 |
T |
C |
18: 35,992,268 (GRCm39) |
V223A |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,404,841 (GRCm39) |
F316S |
probably benign |
Het |
| Dnajc12 |
C |
A |
10: 63,233,104 (GRCm39) |
Q82K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,165,746 (GRCm39) |
E1877K |
probably damaging |
Het |
| Epha3 |
T |
G |
16: 63,418,612 (GRCm39) |
H611P |
probably damaging |
Het |
| Fpr-rs6 |
C |
A |
17: 20,402,701 (GRCm39) |
C220F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,179,554 (GRCm39) |
L2951P |
probably damaging |
Het |
| Gbp10 |
T |
G |
5: 105,368,898 (GRCm39) |
T314P |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,476,741 (GRCm39) |
N77D |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,456,531 (GRCm39) |
D438E |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,480,365 (GRCm39) |
V324M |
probably benign |
Het |
| Kdm7a |
G |
T |
6: 39,121,373 (GRCm39) |
L861M |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,924,697 (GRCm39) |
T302A |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 26,907,192 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,302,709 (GRCm39) |
C3007S |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,045,988 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,068,919 (GRCm39) |
V1087A |
probably benign |
Het |
| Mcmdc2 |
C |
A |
1: 10,001,003 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
A |
G |
19: 11,615,659 (GRCm39) |
I39T |
probably damaging |
Het |
| Mylk |
T |
G |
16: 34,700,643 (GRCm39) |
C495G |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,804,469 (GRCm39) |
D1588G |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,122 (GRCm39) |
I460V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,949,080 (GRCm39) |
S312A |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2d4 |
T |
C |
7: 106,543,839 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Paxip1 |
T |
C |
5: 27,996,222 (GRCm39) |
Y19C |
possibly damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,429,577 (GRCm39) |
A517S |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,140,885 (GRCm39) |
I559T |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,070,081 (GRCm39) |
Q806* |
probably null |
Het |
| Prss51 |
C |
T |
14: 64,333,601 (GRCm39) |
A70V |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,416,829 (GRCm39) |
I356K |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 116,852,508 (GRCm39) |
I522F |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,617,369 (GRCm39) |
D16G |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,033,112 (GRCm39) |
Q439R |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,011,370 (GRCm39) |
D238E |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,621,492 (GRCm39) |
F642I |
probably damaging |
Het |
| Serinc4 |
G |
A |
2: 121,284,086 (GRCm39) |
T310I |
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,040,712 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,991,211 (GRCm39) |
S656P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,340,776 (GRCm39) |
S455P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,720,202 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,682 (GRCm39) |
R27G |
probably damaging |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,400 (GRCm39) |
T97A |
possibly 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 |
|
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'- AAGAAAGTGTCACGTTTCCCAC -3'
(R):5'- TGCATATCAAGTCATCCGCAG -3'
Sequencing Primer
(F):5'- TGCCATGAGTCCTGCCAGTG -3'
(R):5'- CCATATGCGGTTGGACATGAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation