Incidental Mutation 'R1564:Ripor2'
ID |
175143 |
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 |
039603-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R1564 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24859768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 152
(T152M)
|
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: T149M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: T149M
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: T149M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051342 Gene: ENSMUSG00000036006 AA Change: T149M
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: T152M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: T152M
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: T124M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: T124M
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: T149M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: T149M
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: ENSMUST00000177174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177298
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176303
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.0%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,384,316 (GRCm39) |
Q3923* |
probably null |
Het |
Abcc12 |
T |
A |
8: 87,244,115 (GRCm39) |
T1013S |
probably benign |
Het |
Acad9 |
T |
C |
3: 36,143,578 (GRCm39) |
I558T |
possibly damaging |
Het |
Agbl4 |
C |
A |
4: 110,812,761 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
T |
6: 34,283,470 (GRCm39) |
|
probably null |
Het |
Aktip |
A |
G |
8: 91,857,709 (GRCm39) |
M1T |
probably null |
Het |
Apc |
G |
T |
18: 34,448,202 (GRCm39) |
Q1665H |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,467,452 (GRCm39) |
D1916G |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,609,817 (GRCm39) |
V365A |
probably benign |
Het |
Bank1 |
C |
A |
3: 135,919,602 (GRCm39) |
E265* |
probably null |
Het |
Bbs7 |
A |
T |
3: 36,629,944 (GRCm39) |
D578E |
probably damaging |
Het |
Bin3 |
T |
C |
14: 70,372,218 (GRCm39) |
F172L |
probably damaging |
Het |
Bves |
A |
G |
10: 45,245,377 (GRCm39) |
D350G |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,596,835 (GRCm39) |
C80* |
probably null |
Het |
Cacna2d4 |
T |
C |
6: 119,218,156 (GRCm39) |
F164L |
possibly damaging |
Het |
Cenpj |
T |
C |
14: 56,789,523 (GRCm39) |
D842G |
probably benign |
Het |
Col12a1 |
C |
A |
9: 79,521,122 (GRCm39) |
R2781L |
probably damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,724,024 (GRCm39) |
C213* |
probably null |
Het |
Defb33 |
T |
A |
8: 21,387,597 (GRCm39) |
C45S |
possibly damaging |
Het |
Dolk |
A |
T |
2: 30,175,633 (GRCm39) |
N137K |
probably damaging |
Het |
Fam171b |
G |
A |
2: 83,710,628 (GRCm39) |
E767K |
probably damaging |
Het |
Fbxl20 |
A |
T |
11: 97,989,312 (GRCm39) |
D189E |
probably damaging |
Het |
Gm10643 |
A |
T |
8: 84,791,111 (GRCm39) |
M1K |
probably null |
Het |
Gm572 |
T |
G |
4: 148,735,643 (GRCm39) |
I24S |
possibly damaging |
Het |
Gnpda1 |
A |
G |
18: 38,471,142 (GRCm39) |
|
probably null |
Het |
Gpr141b |
T |
C |
13: 19,913,470 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
G |
T |
2: 180,875,021 (GRCm39) |
N1824K |
probably benign |
Het |
Insl3 |
G |
T |
8: 72,142,935 (GRCm39) |
A99S |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,532,055 (GRCm39) |
V137I |
probably benign |
Het |
Lrrc9 |
A |
G |
12: 72,533,827 (GRCm39) |
E1032G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,353,150 (GRCm39) |
T1510A |
probably benign |
Het |
Mnd1 |
T |
C |
3: 84,023,738 (GRCm39) |
E116G |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,287 (GRCm39) |
|
probably null |
Het |
Myoz3 |
G |
A |
18: 60,713,914 (GRCm39) |
S23L |
probably benign |
Het |
Napsa |
G |
T |
7: 44,236,073 (GRCm39) |
V371F |
probably damaging |
Het |
Nefh |
T |
C |
11: 4,889,878 (GRCm39) |
T914A |
unknown |
Het |
Neurod2 |
A |
T |
11: 98,218,250 (GRCm39) |
C305S |
probably damaging |
Het |
Nmnat3 |
T |
C |
9: 98,236,219 (GRCm39) |
|
probably null |
Het |
Nuf2 |
A |
G |
1: 169,326,362 (GRCm39) |
V463A |
unknown |
Het |
Olfml1 |
A |
T |
7: 107,170,346 (GRCm39) |
T78S |
possibly damaging |
Het |
Opcml |
G |
A |
9: 28,814,612 (GRCm39) |
C288Y |
probably damaging |
Het |
Oprl1 |
T |
C |
2: 181,360,733 (GRCm39) |
I222T |
possibly damaging |
Het |
Or13a28 |
G |
A |
7: 140,217,967 (GRCm39) |
V118I |
probably benign |
Het |
Or4c104 |
A |
T |
2: 88,587,000 (GRCm39) |
N6K |
possibly damaging |
Het |
Or4c122 |
G |
T |
2: 89,080,016 (GRCm39) |
N7K |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,495,884 (GRCm39) |
F70L |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,632,120 (GRCm39) |
Y349H |
probably damaging |
Het |
Pla2g4d |
C |
A |
2: 120,099,384 (GRCm39) |
R706L |
possibly damaging |
Het |
Pmm1 |
A |
G |
15: 81,840,401 (GRCm39) |
Y55H |
probably damaging |
Het |
Polb |
A |
G |
8: 23,120,357 (GRCm39) |
|
probably null |
Het |
Pom121l2 |
T |
C |
13: 22,167,523 (GRCm39) |
I598T |
possibly damaging |
Het |
Pxmp2 |
C |
T |
5: 110,429,062 (GRCm39) |
|
probably null |
Het |
Rbm39 |
G |
T |
2: 155,996,177 (GRCm39) |
L403I |
probably benign |
Het |
Rec8 |
T |
C |
14: 55,859,732 (GRCm39) |
|
probably null |
Het |
Reck |
T |
C |
4: 43,912,061 (GRCm39) |
I190T |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,160,050 (GRCm39) |
I166N |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,792,567 (GRCm39) |
K60* |
probably null |
Het |
Scgb1b2 |
A |
T |
7: 30,991,200 (GRCm39) |
|
probably benign |
Het |
Scn3a |
C |
A |
2: 65,344,979 (GRCm39) |
R503M |
probably damaging |
Het |
Scn4a |
C |
A |
11: 106,236,367 (GRCm39) |
D298Y |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,648 (GRCm39) |
F1679S |
probably damaging |
Het |
Scyl3 |
G |
T |
1: 163,767,553 (GRCm39) |
|
probably null |
Het |
Sec23ip |
A |
G |
7: 128,368,005 (GRCm39) |
|
probably null |
Het |
She |
C |
T |
3: 89,756,921 (GRCm39) |
A325V |
possibly damaging |
Het |
Skint2 |
T |
G |
4: 112,483,195 (GRCm39) |
M200R |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,485,981 (GRCm39) |
C35S |
probably damaging |
Het |
Slc25a24 |
T |
A |
3: 109,070,819 (GRCm39) |
S393T |
probably damaging |
Het |
Slc6a19 |
C |
T |
13: 73,834,243 (GRCm39) |
V320M |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,674,249 (GRCm39) |
D579G |
possibly damaging |
Het |
Spats2l |
C |
T |
1: 57,985,383 (GRCm39) |
R479C |
probably damaging |
Het |
Syngr3 |
G |
C |
17: 24,905,642 (GRCm39) |
|
probably null |
Het |
Tas2r107 |
A |
C |
6: 131,636,785 (GRCm39) |
I88R |
probably damaging |
Het |
Them7 |
A |
T |
2: 105,128,259 (GRCm39) |
N80I |
probably damaging |
Het |
Tmprss7 |
C |
T |
16: 45,482,516 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,764,369 (GRCm39) |
N624D |
possibly damaging |
Het |
Trpm2 |
T |
G |
10: 77,778,833 (GRCm39) |
I378L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,554,876 (GRCm39) |
W30676L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,774,384 (GRCm39) |
V2220A |
unknown |
Het |
Uba6 |
T |
C |
5: 86,302,266 (GRCm39) |
T134A |
probably benign |
Het |
Vmn2r55 |
A |
G |
7: 12,418,678 (GRCm39) |
S81P |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,975,548 (GRCm39) |
S606T |
probably damaging |
Het |
Zfp653 |
C |
A |
9: 21,967,155 (GRCm39) |
A577S |
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 |
|
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 |
|
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'- TGCTCCACCAGACATCAGATGGAC -3'
(R):5'- CCAACCGTGCCAGTTAATCAGACTC -3'
Sequencing Primer
(F):5'- AGTTCAAGCTCATCTCTCAGG -3'
(R):5'- gccatttctccagcccc -3'
|
Posted On |
2014-04-24 |