Incidental Mutation 'R6382:Ripor2'
| ID |
515391 |
| 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 |
044531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R6382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24861828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 207
(I207T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[ENSMUST00000058009]
[ENSMUST00000091694]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000132689]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038477
AA Change: I204T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: I204T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058009
AA Change: I204T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: I204T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091694
AA Change: I207T
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: I207T
| 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 |
possibly damaging
Transcript: ENSMUST00000110383
AA Change: I179T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: I179T
| 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 |
possibly damaging
Transcript: ENSMUST00000110384
AA Change: I204T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: I204T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138547
|
| Meta Mutation Damage Score |
0.2180 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
| Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,276,858 (GRCm39) |
R110L |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,804,461 (GRCm39) |
S2264N |
unknown |
Het |
| Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
| Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
| Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,724 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
| Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
| Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
| Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
| Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
| Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
| Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
| Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
| Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
| Shkbp1 |
C |
A |
7: 27,051,484 (GRCm39) |
E192* |
probably null |
Het |
| Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
| Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
| Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
| Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
| Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
| Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
probably benign |
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 |
|
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 |
|
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'- ACAACAGCTTATTGGGCTTCTCTC -3'
(R):5'- CCACCATTGTCTTGCTTGGG -3'
Sequencing Primer
(F):5'- CTCAAGCAGGACGGCTATTTATCTG -3'
(R):5'- AAATGCTTGCCCACTGAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation