Incidental Mutation 'R8364:Ripor2'
ID |
646111 |
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 |
067873-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.247)
|
Stock # |
R8364 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24894176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 735
(T735A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038477]
[ENSMUST00000091694]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000132689]
|
AlphaFold |
Q80U16 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038477
|
SMART Domains |
Protein: ENSMUSP00000043663 Gene: ENSMUSG00000036006
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 benign
Transcript: ENSMUST00000091694
|
SMART Domains |
Protein: ENSMUSP00000089286 Gene: ENSMUSG00000036006
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: T710A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106012 Gene: ENSMUSG00000036006 AA Change: T710A
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: T735A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106013 Gene: ENSMUSG00000036006 AA Change: T735A
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
T |
A |
1: 89,815,396 (GRCm39) |
N761K |
probably damaging |
Het |
Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
Apol7a |
A |
G |
15: 77,273,820 (GRCm39) |
V214A |
possibly damaging |
Het |
Arhgef25 |
G |
T |
10: 127,025,632 (GRCm39) |
Q3K |
unknown |
Het |
Bpifc |
A |
T |
10: 85,797,891 (GRCm39) |
I456N |
probably damaging |
Het |
Cers6 |
C |
T |
2: 68,692,083 (GRCm39) |
A35V |
possibly damaging |
Het |
Corin |
T |
A |
5: 72,462,274 (GRCm39) |
Y986F |
probably benign |
Het |
Csmd3 |
A |
T |
15: 48,536,837 (GRCm39) |
Y122N |
probably damaging |
Het |
Ddit4l |
T |
A |
3: 137,329,996 (GRCm39) |
L18* |
probably null |
Het |
Epb41l3 |
T |
C |
17: 69,573,429 (GRCm39) |
|
probably null |
Het |
Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
Greb1l |
G |
T |
18: 10,529,687 (GRCm39) |
V890L |
possibly damaging |
Het |
Hivep3 |
A |
T |
4: 119,956,639 (GRCm39) |
M1652L |
probably benign |
Het |
Ighv1-19 |
G |
T |
12: 114,672,546 (GRCm39) |
Q25K |
possibly damaging |
Het |
Itprid2 |
T |
C |
2: 79,481,787 (GRCm39) |
L489P |
probably damaging |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Krr1 |
A |
G |
10: 111,813,104 (GRCm39) |
R160G |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,661,404 (GRCm39) |
D515G |
probably damaging |
Het |
Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
Lgalsl |
T |
A |
11: 20,781,009 (GRCm39) |
M1L |
possibly damaging |
Het |
Lrtm2 |
T |
A |
6: 119,294,259 (GRCm39) |
T291S |
probably benign |
Het |
Morc2b |
G |
A |
17: 33,357,214 (GRCm39) |
T186I |
probably benign |
Het |
Mup20 |
G |
T |
4: 61,969,768 (GRCm39) |
S157R |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,490,140 (GRCm39) |
V529A |
probably benign |
Het |
Nps |
T |
A |
7: 134,870,543 (GRCm39) |
W22R |
probably benign |
Het |
Nradd |
C |
A |
9: 110,450,536 (GRCm39) |
V214L |
probably damaging |
Het |
Ogfrl1 |
G |
A |
1: 23,414,824 (GRCm39) |
Q228* |
probably null |
Het |
Or10g9 |
T |
C |
9: 39,911,660 (GRCm39) |
T288A |
probably benign |
Het |
Or56a3b |
T |
A |
7: 104,770,910 (GRCm39) |
I82N |
probably damaging |
Het |
Or5m11b |
G |
A |
2: 85,806,358 (GRCm39) |
C257Y |
possibly damaging |
Het |
Rnase6 |
C |
A |
14: 51,367,910 (GRCm39) |
P101T |
probably benign |
Het |
Slc34a2 |
A |
T |
5: 53,225,716 (GRCm39) |
Y455F |
possibly damaging |
Het |
Stxbp1 |
T |
C |
2: 32,696,774 (GRCm39) |
M330V |
possibly damaging |
Het |
Sypl2 |
T |
C |
3: 108,125,050 (GRCm39) |
T104A |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,421,313 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
C |
A |
1: 105,745,412 (GRCm39) |
T150K |
probably damaging |
Het |
Tpsg1 |
T |
C |
17: 25,593,230 (GRCm39) |
L311P |
possibly damaging |
Het |
Ttc7b |
T |
C |
12: 100,291,817 (GRCm39) |
S766G |
probably benign |
Het |
Vmn2r83 |
A |
G |
10: 79,316,037 (GRCm39) |
T478A |
probably benign |
Het |
Wdr1 |
G |
A |
5: 38,685,192 (GRCm39) |
T593I |
possibly damaging |
Het |
Zfp407 |
A |
G |
18: 84,570,993 (GRCm39) |
|
probably null |
Het |
Zfp872 |
G |
A |
9: 22,111,540 (GRCm39) |
G340R |
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 |
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 |
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'- TTGGCAACCGAGCTGAAATAAG -3'
(R):5'- TTGGCAAAGCTAAGACACACG -3'
Sequencing Primer
(F):5'- AAAGGTACCCCTGCTTTTGAGAG -3'
(R):5'- GGCAAAGCTAAGACACACGCTATG -3'
|
Posted On |
2020-09-02 |