Incidental Mutation 'R7216:Ripor2'
ID |
561497 |
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 |
045288-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R7216 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24855886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 109
(G109R)
|
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: G109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006 AA Change: G109R
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: G109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051342 Gene: ENSMUSG00000036006 AA Change: G109R
Domain | Start | End | E-Value | Type |
coiled coil region
|
108 |
137 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091694
AA Change: G112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006 AA Change: G112R
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: G84R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: G84R
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: G109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: G109R
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
A |
12: 53,187,240 (GRCm39) |
N1551K |
probably benign |
Het |
Amy2a1 |
T |
C |
3: 113,324,090 (GRCm39) |
D150G |
possibly damaging |
Het |
Atp2b1 |
T |
A |
10: 98,822,839 (GRCm39) |
C165S |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,344,930 (GRCm39) |
D102E |
probably benign |
Het |
Capn8 |
C |
A |
1: 182,426,363 (GRCm39) |
R233S |
possibly damaging |
Het |
Cd48 |
T |
C |
1: 171,523,390 (GRCm39) |
S78P |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,475,648 (GRCm39) |
D944E |
probably benign |
Het |
Clip2 |
A |
G |
5: 134,531,771 (GRCm39) |
M678T |
probably benign |
Het |
Clmp |
T |
C |
9: 40,672,205 (GRCm39) |
Y12H |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,845,694 (GRCm39) |
V356D |
probably damaging |
Het |
Copg2 |
A |
T |
6: 30,862,535 (GRCm39) |
D101E |
probably damaging |
Het |
Cpsf6 |
G |
A |
10: 117,197,928 (GRCm39) |
P229S |
unknown |
Het |
Dgke |
T |
C |
11: 88,941,163 (GRCm39) |
D340G |
probably benign |
Het |
Dlg1 |
TAAA |
TAA |
16: 31,615,736 (GRCm39) |
|
probably null |
Het |
Dlg5 |
G |
A |
14: 24,186,706 (GRCm39) |
Q1865* |
probably null |
Het |
Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,771,375 (GRCm39) |
K2633N |
possibly damaging |
Het |
Egln2 |
T |
C |
7: 26,859,254 (GRCm39) |
D365G |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,421,621 (GRCm39) |
D287G |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,945,192 (GRCm39) |
T1362A |
probably damaging |
Het |
Flt4 |
A |
G |
11: 49,525,508 (GRCm39) |
T685A |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,887,173 (GRCm39) |
Y2652H |
probably damaging |
Het |
Gas2 |
A |
G |
7: 51,547,005 (GRCm39) |
E52G |
possibly damaging |
Het |
Gm5093 |
A |
T |
17: 46,751,014 (GRCm39) |
D4E |
not run |
Het |
Gm6370 |
A |
T |
5: 146,430,723 (GRCm39) |
T303S |
probably benign |
Het |
Gpr161 |
A |
G |
1: 165,134,115 (GRCm39) |
I126V |
probably benign |
Het |
Gpr63 |
T |
C |
4: 25,008,038 (GRCm39) |
L254P |
probably damaging |
Het |
H2-M9 |
C |
T |
17: 36,951,594 (GRCm39) |
V294I |
probably benign |
Het |
Insr |
T |
A |
8: 3,253,034 (GRCm39) |
N375I |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,754,739 (GRCm39) |
N600S |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,274,809 (GRCm39) |
N628S |
probably damaging |
Het |
Irf2 |
A |
G |
8: 47,246,591 (GRCm39) |
T20A |
probably benign |
Het |
Irs1 |
T |
A |
1: 82,267,476 (GRCm39) |
T247S |
probably damaging |
Het |
Islr |
C |
T |
9: 58,064,250 (GRCm39) |
S419N |
unknown |
Het |
Kcna2 |
T |
A |
3: 107,012,109 (GRCm39) |
I230N |
probably damaging |
Het |
Kif3c |
C |
A |
12: 3,416,126 (GRCm39) |
A49E |
probably benign |
Het |
Kifap3 |
A |
T |
1: 163,623,558 (GRCm39) |
K108N |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,563,057 (GRCm39) |
F527I |
probably damaging |
Het |
Layn |
A |
G |
9: 50,988,352 (GRCm39) |
|
probably benign |
Het |
Lims2 |
G |
T |
18: 32,090,315 (GRCm39) |
W276L |
probably damaging |
Het |
Lsp1 |
T |
C |
7: 142,042,179 (GRCm39) |
L133S |
probably damaging |
Het |
Map3k6 |
T |
G |
4: 132,974,211 (GRCm39) |
V536G |
probably damaging |
Het |
Med7 |
T |
A |
11: 46,331,681 (GRCm39) |
L92H |
probably damaging |
Het |
Mllt1 |
A |
G |
17: 57,234,042 (GRCm39) |
V48A |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,860,290 (GRCm39) |
R1650G |
possibly damaging |
Het |
Neurl4 |
T |
A |
11: 69,801,088 (GRCm39) |
V1153E |
probably damaging |
Het |
Nkx2-1 |
A |
C |
12: 56,581,587 (GRCm39) |
C87G |
probably damaging |
Het |
Nsun7 |
T |
C |
5: 66,436,000 (GRCm39) |
S291P |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,525,790 (GRCm39) |
Q309L |
probably benign |
Het |
Or13a18 |
A |
T |
7: 140,190,373 (GRCm39) |
N90I |
possibly damaging |
Het |
Or1p1c |
A |
T |
11: 74,160,550 (GRCm39) |
I112F |
probably damaging |
Het |
Or4e1 |
G |
A |
14: 52,700,945 (GRCm39) |
P174S |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
Pals1 |
G |
A |
12: 78,844,006 (GRCm39) |
R70H |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,767,379 (GRCm39) |
Y331C |
possibly damaging |
Het |
Pirb |
T |
A |
7: 3,719,273 (GRCm39) |
T539S |
probably benign |
Het |
Plch2 |
T |
G |
4: 155,068,685 (GRCm39) |
T1314P |
probably benign |
Het |
Polk |
T |
C |
13: 96,644,728 (GRCm39) |
S133G |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,578,399 (GRCm39) |
I220V |
probably damaging |
Het |
Prdm5 |
A |
T |
6: 65,904,967 (GRCm39) |
K533* |
probably null |
Het |
Prmt1 |
T |
A |
7: 44,632,997 (GRCm39) |
Q35H |
probably benign |
Het |
Pum3 |
A |
T |
19: 27,401,625 (GRCm39) |
W142R |
probably damaging |
Het |
Rest |
G |
A |
5: 77,430,455 (GRCm39) |
R958H |
probably benign |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sec62 |
C |
T |
3: 30,872,978 (GRCm39) |
Q354* |
probably null |
Het |
Snx14 |
T |
C |
9: 88,263,844 (GRCm39) |
Y847C |
probably damaging |
Het |
Sox7 |
A |
T |
14: 64,185,438 (GRCm39) |
D158V |
probably benign |
Het |
Spag8 |
A |
G |
4: 43,652,034 (GRCm39) |
V350A |
possibly damaging |
Het |
Syngr1 |
A |
T |
15: 79,995,934 (GRCm39) |
I158F |
probably damaging |
Het |
Tacstd2 |
C |
A |
6: 67,511,979 (GRCm39) |
V238L |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,063,014 (GRCm39) |
S815P |
possibly damaging |
Het |
Tmem117 |
A |
T |
15: 94,612,793 (GRCm39) |
T110S |
possibly damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,718 (GRCm39) |
I836T |
probably benign |
Het |
Trim30b |
C |
A |
7: 104,006,569 (GRCm39) |
V96L |
probably benign |
Het |
Tssk3 |
TGCTATCATGGGG |
TG |
4: 129,383,106 (GRCm39) |
|
probably null |
Het |
Tyk2 |
G |
T |
9: 21,031,822 (GRCm39) |
H418N |
probably benign |
Het |
Uap1 |
G |
T |
1: 169,986,472 (GRCm39) |
T170K |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,606 (GRCm39) |
V141A |
not run |
Het |
Vmn1r54 |
T |
A |
6: 90,246,647 (GRCm39) |
I187K |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,492,859 (GRCm39) |
V317M |
probably damaging |
Het |
Wnt8b |
A |
G |
19: 44,500,511 (GRCm39) |
K366R |
probably benign |
Het |
Zfp207 |
C |
T |
11: 80,286,004 (GRCm39) |
P415L |
unknown |
Het |
Zfp263 |
A |
G |
16: 3,562,435 (GRCm39) |
E66G |
probably damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
Zfp985 |
T |
A |
4: 147,667,913 (GRCm39) |
H260Q |
probably damaging |
Het |
Zmiz1 |
GCC |
GC |
14: 25,576,624 (GRCm39) |
|
probably null |
Het |
Zmiz1 |
A |
G |
14: 25,576,633 (GRCm39) |
R47G |
probably damaging |
Het |
Zmiz1 |
A |
C |
14: 25,576,631 (GRCm39) |
Q46P |
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 |
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'- CCAGTGGGTCTTTTGATGCC -3'
(R):5'- AGCTGCCTCAATGATAGAGC -3'
Sequencing Primer
(F):5'- GCCTGAGGCTCACAGTTTC -3'
(R):5'- TGCAATCCCAGCGTCTGATAGATG -3'
|
Posted On |
2019-06-26 |