Incidental Mutation 'R7248:Ripor2'
| ID |
563707 |
| 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 |
045311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R7248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24878128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 301
(H301R)
|
| 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: H301R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: H301R
| 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: H301R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: H301R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: H304R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: H304R
| 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: H276R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: H276R
| 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: H301R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: H301R
| 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
|
| Meta Mutation Damage Score |
0.8015 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
97% (75/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,207,959 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,439,907 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,194 (GRCm39) |
T452A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,947,293 (GRCm39) |
E1119K |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,922,714 (GRCm39) |
E39D |
possibly damaging |
Het |
| Bud13 |
G |
T |
9: 46,194,413 (GRCm39) |
E29* |
probably null |
Het |
| Ccdc150 |
C |
T |
1: 54,344,057 (GRCm39) |
T530I |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,803,199 (GRCm39) |
Q2160* |
probably null |
Het |
| Cluap1 |
T |
A |
16: 3,737,364 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,334,278 (GRCm39) |
N329S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,608,834 (GRCm39) |
T175S |
unknown |
Het |
| Coq7 |
C |
A |
7: 118,128,897 (GRCm39) |
R46L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,145,198 (GRCm39) |
V1276E |
probably damaging |
Het |
| Dcaf15 |
A |
G |
8: 84,829,394 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,198 (GRCm39) |
V417I |
probably benign |
Het |
| Defa25 |
G |
A |
8: 21,575,216 (GRCm39) |
C65Y |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,559 (GRCm39) |
T425A |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 38,022,829 (GRCm39) |
T782A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,181,245 (GRCm39) |
M1044K |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,940 (GRCm39) |
T297M |
probably benign |
Het |
| Esyt2 |
A |
G |
12: 116,305,858 (GRCm39) |
N363D |
probably damaging |
Het |
| Fasl |
C |
T |
1: 161,615,760 (GRCm39) |
C32Y |
possibly damaging |
Het |
| Flg |
T |
C |
3: 93,189,041 (GRCm39) |
V137A |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,086 (GRCm39) |
T224S |
probably benign |
Het |
| Gpr150 |
G |
A |
13: 76,204,126 (GRCm39) |
A273V |
probably benign |
Het |
| Grk5 |
A |
G |
19: 60,879,045 (GRCm39) |
T10A |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,006,909 (GRCm39) |
K1169R |
possibly damaging |
Het |
| Ido2 |
A |
C |
8: 25,030,657 (GRCm39) |
Y224* |
probably null |
Het |
| Ido2 |
A |
G |
8: 25,038,839 (GRCm39) |
I149T |
probably damaging |
Het |
| Iqca1l |
C |
T |
5: 24,749,269 (GRCm39) |
S743N |
probably benign |
Het |
| Kctd2 |
A |
G |
11: 115,312,845 (GRCm39) |
T126A |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,600,886 (GRCm39) |
S228P |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,969,305 (GRCm39) |
D1090G |
probably benign |
Het |
| Klrb1a |
A |
T |
6: 128,586,697 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Kndc1 |
A |
C |
7: 139,500,699 (GRCm39) |
H688P |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,059,611 (GRCm39) |
V141F |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 16,106,722 (GRCm39) |
I1845V |
unknown |
Het |
| Mob3c |
G |
A |
4: 115,688,881 (GRCm39) |
R138H |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,723,209 (GRCm39) |
D394E |
possibly damaging |
Het |
| Myh7b |
A |
T |
2: 155,464,106 (GRCm39) |
I536F |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,589 (GRCm39) |
K1382* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,598 (GRCm39) |
K128R |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,520 (GRCm39) |
N303D |
probably damaging |
Het |
| Ostn |
T |
A |
16: 27,165,719 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
G |
A |
19: 5,189,003 (GRCm39) |
T793I |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,547 (GRCm39) |
S507P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,597 (GRCm39) |
K393E |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,423 (GRCm39) |
N656Y |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,331 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,203,586 (GRCm39) |
E550* |
probably null |
Het |
| Plxna4 |
A |
T |
6: 32,139,095 (GRCm39) |
V1691E |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,123 (GRCm39) |
H1006Q |
probably damaging |
Het |
| Rfx4 |
C |
T |
10: 84,740,919 (GRCm39) |
P679L |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,871,877 (GRCm39) |
I469N |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,559 (GRCm39) |
T211A |
probably benign |
Het |
| Sf1 |
A |
T |
19: 6,426,383 (GRCm39) |
H547L |
unknown |
Het |
| Slc29a1 |
T |
C |
17: 45,903,108 (GRCm39) |
D9G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,892,311 (GRCm39) |
M1075K |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,741 (GRCm39) |
D474G |
probably damaging |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,087,870 (GRCm39) |
T1148A |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,601,899 (GRCm39) |
|
probably null |
Het |
| Tmem158 |
A |
T |
9: 123,089,390 (GRCm39) |
I74N |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,743,432 (GRCm39) |
D174V |
probably benign |
Het |
| Trim65 |
A |
T |
11: 116,018,534 (GRCm39) |
I247N |
probably benign |
Het |
| Tsfm |
A |
T |
10: 126,847,500 (GRCm39) |
V197E |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,604,562 (GRCm39) |
C539R |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,655,406 (GRCm39) |
F1874Y |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,453,238 (GRCm39) |
M215T |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,655,988 (GRCm39) |
D112G |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,911 (GRCm39) |
D83N |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,931 (GRCm39) |
V358E |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,672,489 (GRCm39) |
C29* |
probably null |
Het |
| Zng1 |
A |
G |
19: 24,898,505 (GRCm39) |
S318P |
probably 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 |
|
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'- TAGGTCTCTCTGTGTGCAAAG -3'
(R):5'- CAGTTCAGGTGTGACCACTG -3'
Sequencing Primer
(F):5'- GCAAAGCCTCTTTTAGTTGAGATGC -3'
(R):5'- TAGCCTGGAAGAACACTAGCCATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation