Incidental Mutation 'R7299:Ripor2'
| ID |
566888 |
| 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 |
045403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R7299 (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 24908984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1034
(I1034T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110383]
[ENSMUST00000110384]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110383
AA Change: I1009T
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: I1009T
| 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: I1034T
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: I1034T
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,244,649 (GRCm39) |
N2171Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,754,922 (GRCm39) |
T1532I |
possibly damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,769 (GRCm39) |
|
probably null |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Agk |
A |
T |
6: 40,306,451 (GRCm39) |
T7S |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,082,696 (GRCm39) |
T1940K |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,729,956 (GRCm39) |
T482A |
unknown |
Het |
| Cd2ap |
G |
A |
17: 43,140,904 (GRCm39) |
R212* |
probably null |
Het |
| Cenpt |
G |
A |
8: 106,576,536 (GRCm39) |
Q45* |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,775 (GRCm39) |
I246M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,586 (GRCm39) |
I74T |
probably damaging |
Het |
| Cog6 |
T |
C |
3: 52,909,928 (GRCm39) |
S275G |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,422,055 (GRCm39) |
D2797E |
|
Het |
| Ddx24 |
A |
G |
12: 103,385,709 (GRCm39) |
M298T |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,910,019 (GRCm39) |
S185T |
probably benign |
Het |
| Ergic2 |
T |
A |
6: 148,089,610 (GRCm39) |
Y249F |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,690,006 (GRCm39) |
M182K |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,847 (GRCm39) |
E1126G |
probably damaging |
Het |
| Gabrr2 |
T |
A |
4: 33,095,284 (GRCm39) |
M391K |
probably benign |
Het |
| Gap43 |
T |
C |
16: 42,112,615 (GRCm39) |
K49E |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,441,191 (GRCm39) |
T276S |
probably damaging |
Het |
| Gca |
C |
T |
2: 62,520,320 (GRCm39) |
P160L |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,658,942 (GRCm39) |
V397I |
possibly damaging |
Het |
| Gm3409 |
T |
A |
5: 146,476,357 (GRCm39) |
D169E |
probably benign |
Het |
| Gtf3c3 |
G |
A |
1: 54,456,867 (GRCm39) |
P511L |
probably benign |
Het |
| Hal |
T |
C |
10: 93,328,423 (GRCm39) |
V233A |
probably benign |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,196 (GRCm39) |
N112D |
probably benign |
Het |
| Klhl38 |
G |
A |
15: 58,186,376 (GRCm39) |
R118W |
probably damaging |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,132 (GRCm39) |
Y163C |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,082,007 (GRCm39) |
D44G |
probably benign |
Het |
| Mob1a |
G |
A |
6: 83,315,431 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
T |
9: 107,791,989 (GRCm39) |
A842S |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,403,419 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,970 (GRCm39) |
D230V |
possibly damaging |
Het |
| Nppb |
T |
C |
4: 148,070,780 (GRCm39) |
S52P |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,635 (GRCm39) |
K545E |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or1s2 |
G |
A |
19: 13,758,688 (GRCm39) |
W235* |
probably null |
Het |
| Pcdha3 |
G |
A |
18: 37,079,977 (GRCm39) |
E240K |
possibly damaging |
Het |
| Podxl |
G |
T |
6: 31,501,371 (GRCm39) |
P395T |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,631 (GRCm39) |
D298V |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,418,142 (GRCm39) |
|
probably null |
Het |
| Rad9b |
A |
G |
5: 122,490,677 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,047,885 (GRCm39) |
K365R |
probably benign |
Het |
| Reep1 |
A |
T |
6: 71,738,373 (GRCm39) |
I44L |
probably benign |
Het |
| Rtn4ip1 |
T |
C |
10: 43,812,016 (GRCm39) |
Y338H |
probably damaging |
Het |
| Shisa5 |
G |
T |
9: 108,883,952 (GRCm39) |
|
probably benign |
Het |
| Snx24 |
G |
T |
18: 53,473,244 (GRCm39) |
V63F |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,046,587 (GRCm39) |
Q3515* |
probably null |
Het |
| Tfap2a |
T |
C |
13: 40,874,784 (GRCm39) |
K276E |
probably damaging |
Het |
| Tmem158 |
C |
A |
9: 123,089,366 (GRCm39) |
S82I |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,261 (GRCm39) |
|
probably null |
Het |
| Tmtc3 |
G |
T |
10: 100,283,336 (GRCm39) |
H740N |
not run |
Het |
| Tnrc6a |
A |
C |
7: 122,770,136 (GRCm39) |
N642T |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,638,974 (GRCm39) |
F559I |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,280,929 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,225,048 (GRCm39) |
I799T |
possibly damaging |
Het |
| Ttc7 |
T |
C |
17: 87,653,970 (GRCm39) |
I549T |
possibly damaging |
Het |
| Tysnd1 |
C |
A |
10: 61,532,328 (GRCm39) |
P327T |
possibly damaging |
Het |
| Ulk4 |
T |
A |
9: 120,974,125 (GRCm39) |
D969V |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,853,385 (GRCm39) |
Y525F |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,975 (GRCm39) |
S202N |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,878 (GRCm39) |
I64M |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,782,746 (GRCm39) |
F728S |
probably damaging |
Het |
| Zfp280b |
C |
G |
10: 75,874,537 (GRCm39) |
Q139E |
probably damaging |
Het |
| Zfp322a |
C |
A |
13: 23,541,313 (GRCm39) |
G143V |
probably damaging |
Het |
| Zfp322a |
C |
T |
13: 23,541,314 (GRCm39) |
G143S |
probably benign |
Het |
| Zfp418 |
T |
A |
7: 7,185,827 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,716,669 (GRCm39) |
T190A |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,329,758 (GRCm39) |
V476D |
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 |
|
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 |
|
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'- CACATGTTGTTTCAATCCAAGCAC -3'
(R):5'- TTCCTGTGCAGAGAGAACAAGG -3'
Sequencing Primer
(F):5'- GTTGTTTCAATCCAAGCACAAGAG -3'
(R):5'- GCAAGATCTGGACACAATCGATTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation