Incidental Mutation 'R7499:Ripor2'
| ID |
581393 |
| 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 |
045572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R7499 (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 24877755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 252
(M252V)
|
| 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: M252V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: M252V
| 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: M252V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: M252V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: M255V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: M255V
| 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: M227V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: M227V
| 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: M252V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: M252V
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,907,186 (GRCm39) |
D180V |
possibly damaging |
Het |
| Abat |
T |
C |
16: 8,421,618 (GRCm39) |
|
probably null |
Het |
| Ankfn1 |
G |
A |
11: 89,282,576 (GRCm39) |
T357I |
probably benign |
Het |
| Armc3 |
C |
T |
2: 19,290,790 (GRCm39) |
T423I |
probably benign |
Het |
| Asb6 |
T |
C |
2: 30,714,472 (GRCm39) |
T213A |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,882,575 (GRCm39) |
C488R |
probably benign |
Het |
| Bag6 |
G |
A |
17: 35,363,368 (GRCm39) |
R736H |
probably benign |
Het |
| Bche |
G |
A |
3: 73,609,231 (GRCm39) |
P65L |
probably damaging |
Het |
| Cela3a |
T |
A |
4: 137,132,950 (GRCm39) |
I101F |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,028 (GRCm39) |
D359E |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,299,549 (GRCm39) |
V314A |
probably benign |
Het |
| Clpb |
T |
C |
7: 101,371,935 (GRCm39) |
F224L |
possibly damaging |
Het |
| Coro2a |
T |
C |
4: 46,539,188 (GRCm39) |
K527R |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,630,856 (GRCm39) |
T373A |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,937,149 (GRCm39) |
|
probably null |
Het |
| Dlx5 |
G |
A |
6: 6,878,340 (GRCm39) |
S230F |
possibly damaging |
Het |
| Dlx5 |
A |
C |
6: 6,878,341 (GRCm39) |
S230A |
probably benign |
Het |
| Dmc1 |
G |
T |
15: 79,486,621 (GRCm39) |
S11* |
probably null |
Het |
| Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,660,135 (GRCm39) |
F846L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,302,596 (GRCm39) |
I1618F |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,279,538 (GRCm39) |
V267A |
possibly damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,924,007 (GRCm39) |
I317M |
probably damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,520 (GRCm39) |
Y323* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,058,489 (GRCm39) |
C377R |
possibly damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,134,126 (GRCm39) |
V158A |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,396,227 (GRCm39) |
R340G |
unknown |
Het |
| Ifi206 |
T |
A |
1: 173,309,607 (GRCm39) |
I130F |
|
Het |
| Ifnb1 |
T |
C |
4: 88,440,911 (GRCm39) |
N34S |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,323,702 (GRCm39) |
K283E |
probably damaging |
Het |
| Maf |
T |
C |
8: 116,419,920 (GRCm39) |
D374G |
probably benign |
Het |
| Mettl14 |
A |
G |
3: 123,168,503 (GRCm39) |
I179T |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,684,251 (GRCm39) |
R91H |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,121,171 (GRCm39) |
P651Q |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,007 (GRCm39) |
*315Q |
probably null |
Het |
| Phkg1 |
G |
A |
5: 129,902,109 (GRCm39) |
Q89* |
probably null |
Het |
| Phykpl |
T |
A |
11: 51,482,285 (GRCm39) |
V133E |
probably damaging |
Het |
| Polr3gl |
A |
T |
3: 96,487,137 (GRCm39) |
Y183N |
probably benign |
Het |
| Rab13 |
A |
G |
3: 90,132,840 (GRCm39) |
T187A |
probably benign |
Het |
| Sec61a2 |
T |
C |
2: 5,882,725 (GRCm39) |
N186S |
probably benign |
Het |
| Serpinb5 |
T |
C |
1: 106,800,119 (GRCm39) |
|
probably null |
Het |
| Serpine3 |
G |
A |
14: 62,902,476 (GRCm39) |
W29* |
probably null |
Het |
| Sh2b3 |
T |
C |
5: 121,956,536 (GRCm39) |
R382G |
probably damaging |
Het |
| Slc66a1 |
T |
A |
4: 139,033,823 (GRCm39) |
D32V |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,610,461 (GRCm39) |
L451P |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,257 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
A |
14: 51,091,047 (GRCm39) |
A695V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,684,743 (GRCm39) |
V857A |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,072,097 (GRCm39) |
M255L |
probably benign |
Het |
| Tsc22d4 |
G |
A |
5: 137,745,985 (GRCm39) |
S203N |
probably benign |
Het |
| Tsfm |
T |
C |
10: 126,858,417 (GRCm39) |
E316G |
possibly damaging |
Het |
| Tvp23b |
T |
C |
11: 62,770,289 (GRCm39) |
|
probably benign |
Het |
| Vgf |
C |
A |
5: 137,061,099 (GRCm39) |
D420E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,618 (GRCm39) |
P854S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
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 |
|
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 |
|
|
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'- GCACTCCTAAACTGGTCCAG -3'
(R):5'- GCACACAGAGAGACCTATGG -3'
Sequencing Primer
(F):5'- GGTCCAGATTTGTTACAACACGGC -3'
(R):5'- ACCAAGGGATCATTGGGCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation