Incidental Mutation 'R5304:Ripor2'
ID |
404458 |
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 |
042887-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R5304 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24858649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 147
(D147V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089286
(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: D144V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: D144V
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: D144V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051342 Gene: ENSMUSG00000036006 AA Change: D144V
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: D147V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: D147V
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: D119V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: D119V
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: D144V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: D144V
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: ENSMUST00000138547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177298
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177174
|
Meta Mutation Damage Score |
0.9145 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (87/88) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
C |
T |
11: 7,014,198 (GRCm39) |
A200V |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,726,372 (GRCm39) |
D551G |
possibly damaging |
Het |
Aldh3a2 |
A |
G |
11: 61,144,538 (GRCm39) |
V340A |
probably damaging |
Het |
Amy1 |
C |
A |
3: 113,352,013 (GRCm39) |
C393F |
probably damaging |
Het |
Ankrd16 |
T |
C |
2: 11,794,545 (GRCm39) |
V310A |
probably benign |
Het |
Arhgef15 |
T |
C |
11: 68,838,063 (GRCm39) |
S686G |
probably null |
Het |
Arid4b |
T |
A |
13: 14,361,514 (GRCm39) |
N659K |
probably benign |
Het |
Asz1 |
C |
T |
6: 18,076,619 (GRCm39) |
R191Q |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,879,383 (GRCm39) |
I947V |
probably damaging |
Het |
AW011738 |
G |
A |
4: 156,287,969 (GRCm39) |
|
probably benign |
Het |
Bfsp1 |
G |
T |
2: 143,669,211 (GRCm39) |
T456K |
probably benign |
Het |
Cdc25c |
T |
C |
18: 34,883,864 (GRCm39) |
T40A |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 110,036,569 (GRCm39) |
C583Y |
probably damaging |
Het |
Ceacam23 |
A |
C |
7: 17,636,617 (GRCm39) |
E231D |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,656,968 (GRCm39) |
L3028Q |
probably damaging |
Het |
Chd1 |
A |
G |
17: 15,975,213 (GRCm39) |
S1088G |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,990,530 (GRCm39) |
H1694L |
possibly damaging |
Het |
Cstf3 |
G |
T |
2: 104,493,735 (GRCm39) |
E580* |
probably null |
Het |
Dip2a |
A |
T |
10: 76,130,357 (GRCm39) |
M622K |
possibly damaging |
Het |
Dlgap1 |
A |
T |
17: 71,122,202 (GRCm39) |
H877L |
probably damaging |
Het |
Egfr |
G |
T |
11: 16,834,260 (GRCm39) |
M122I |
probably benign |
Het |
Etfbkmt |
T |
A |
6: 149,048,704 (GRCm39) |
D114E |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,666,551 (GRCm39) |
L158P |
probably damaging |
Het |
Exo1 |
G |
A |
1: 175,720,542 (GRCm39) |
V287M |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,226,654 (GRCm39) |
Y471H |
probably damaging |
Het |
Fermt1 |
T |
A |
2: 132,783,986 (GRCm39) |
T8S |
probably benign |
Het |
Fgfr2 |
G |
T |
7: 129,769,504 (GRCm39) |
P630T |
probably damaging |
Het |
Fmo5 |
G |
A |
3: 97,558,938 (GRCm39) |
G466E |
probably damaging |
Het |
Hcn4 |
A |
G |
9: 58,751,215 (GRCm39) |
I280M |
probably benign |
Het |
Ifi208 |
A |
C |
1: 173,511,174 (GRCm39) |
K443T |
probably benign |
Het |
Irs3 |
A |
G |
5: 137,643,003 (GRCm39) |
F145S |
probably benign |
Het |
Kirrel1 |
T |
A |
3: 86,996,902 (GRCm39) |
H300L |
probably benign |
Het |
Krit1 |
A |
G |
5: 3,869,326 (GRCm39) |
Q340R |
probably damaging |
Het |
Lipo5 |
T |
C |
19: 33,445,149 (GRCm39) |
D140G |
unknown |
Het |
Lrrtm4 |
A |
T |
6: 79,999,683 (GRCm39) |
Q365L |
probably benign |
Het |
Lrwd1 |
G |
T |
5: 136,160,004 (GRCm39) |
T353K |
possibly damaging |
Het |
Lsm14a |
A |
T |
7: 34,053,154 (GRCm39) |
S240R |
possibly damaging |
Het |
Map3k5 |
A |
G |
10: 19,983,984 (GRCm39) |
I870V |
probably benign |
Het |
Matcap2 |
A |
T |
9: 22,335,528 (GRCm39) |
T49S |
probably benign |
Het |
Mmp17 |
A |
T |
5: 129,671,678 (GRCm39) |
E76V |
probably null |
Het |
Mphosph10 |
A |
G |
7: 64,038,732 (GRCm39) |
F272L |
probably damaging |
Het |
Mtcl2 |
G |
A |
2: 156,865,737 (GRCm39) |
Q1127* |
probably null |
Het |
Myh10 |
A |
G |
11: 68,655,071 (GRCm39) |
K380R |
probably damaging |
Het |
Myo3b |
C |
T |
2: 70,257,232 (GRCm39) |
P1282L |
probably damaging |
Het |
Nemp2 |
T |
C |
1: 52,682,238 (GRCm39) |
|
probably benign |
Het |
Ola1 |
T |
C |
2: 73,029,778 (GRCm39) |
I114V |
probably damaging |
Het |
Or4c3d |
T |
A |
2: 89,882,257 (GRCm39) |
H137L |
probably benign |
Het |
Or8k28 |
T |
A |
2: 86,285,779 (GRCm39) |
T279S |
probably damaging |
Het |
Pabpc4 |
T |
G |
4: 123,184,100 (GRCm39) |
D204E |
probably benign |
Het |
Pigr |
A |
T |
1: 130,777,230 (GRCm39) |
M679L |
probably benign |
Het |
Pik3c2b |
A |
T |
1: 132,998,146 (GRCm39) |
M341L |
possibly damaging |
Het |
Plin4 |
T |
A |
17: 56,413,132 (GRCm39) |
T498S |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,562,459 (GRCm39) |
S15P |
possibly damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,984 (GRCm39) |
Y502C |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,468,050 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
T |
C |
11: 54,548,200 (GRCm39) |
S505P |
probably benign |
Het |
Rgmb |
G |
T |
17: 16,040,990 (GRCm39) |
S199* |
probably null |
Het |
Rgsl1 |
T |
C |
1: 153,703,238 (GRCm39) |
T173A |
probably damaging |
Het |
Rhobtb1 |
G |
T |
10: 69,105,742 (GRCm39) |
K102N |
probably damaging |
Het |
Rsad2 |
A |
T |
12: 26,500,681 (GRCm39) |
V202E |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,629,141 (GRCm39) |
N186S |
probably damaging |
Het |
Sorbs3 |
G |
A |
14: 70,422,345 (GRCm39) |
R622* |
probably null |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Srgap3 |
T |
C |
6: 112,743,900 (GRCm39) |
Y446C |
probably damaging |
Het |
Thsd7b |
C |
T |
1: 129,605,980 (GRCm39) |
R574* |
probably null |
Het |
Tmem74 |
A |
T |
15: 43,730,217 (GRCm39) |
Y275* |
probably null |
Het |
Topors |
A |
T |
4: 40,262,541 (GRCm39) |
S248T |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,694 (GRCm39) |
Y239F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,548,527 (GRCm39) |
Y30179F |
possibly damaging |
Het |
Ugt2b34 |
A |
T |
5: 87,040,724 (GRCm39) |
F399L |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,088,995 (GRCm39) |
I317F |
probably damaging |
Het |
Usp1 |
T |
C |
4: 98,822,855 (GRCm39) |
V723A |
probably benign |
Het |
Usp34 |
T |
G |
11: 23,293,616 (GRCm39) |
L237V |
probably damaging |
Het |
Vgf |
A |
T |
5: 137,061,140 (GRCm39) |
D434V |
probably damaging |
Het |
Vmn1r179 |
A |
G |
7: 23,628,100 (GRCm39) |
N97S |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,687,751 (GRCm39) |
L899P |
possibly damaging |
Het |
Vps33b |
A |
T |
7: 79,924,001 (GRCm39) |
I41F |
probably damaging |
Het |
Zap70 |
A |
T |
1: 36,817,299 (GRCm39) |
H210L |
probably damaging |
Het |
Zc3h8 |
T |
C |
2: 128,770,835 (GRCm39) |
D300G |
probably benign |
Het |
Zfp958 |
C |
A |
8: 4,676,196 (GRCm39) |
H55N |
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 |
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 |
|
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'- ATGTGATGCTGGCTCCTGAG -3'
(R):5'- ATCCTGGAGGCCTTGTTTC -3'
Sequencing Primer
(F):5'- CCCAAATAACCCAGAGTTTTACTC -3'
(R):5'- GAGGCCTTGTTTCCCCCTCAG -3'
|
Posted On |
2016-07-22 |