Incidental Mutation 'R2137:Ripor2'
| ID |
235906 |
| 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 |
040140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R2137 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 24905817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110383]
[ENSMUST00000110383]
[ENSMUST00000110384]
[ENSMUST00000110384]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110383
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
| 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 null
Transcript: ENSMUST00000110383
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
| 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 null
Transcript: ENSMUST00000110384
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
| 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 null
Transcript: ENSMUST00000110384
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
| 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 |
|
| Meta Mutation Damage Score |
0.9487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
C |
T |
10: 81,482,143 (GRCm39) |
T88I |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,675 (GRCm39) |
V49D |
probably damaging |
Het |
| Bub1b |
G |
T |
2: 118,467,199 (GRCm39) |
E841* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,027,836 (GRCm39) |
N527I |
probably damaging |
Het |
| Cdh22 |
G |
A |
2: 164,958,314 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,550,127 (GRCm39) |
L262P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,797 (GRCm39) |
H120R |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,483,749 (GRCm39) |
S890P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,112,665 (GRCm39) |
E1675G |
probably damaging |
Het |
| Faiml |
G |
A |
9: 99,114,545 (GRCm39) |
P115S |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,915,745 (GRCm39) |
D62V |
possibly damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Galntl6 |
C |
T |
8: 58,988,939 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,836,346 (GRCm39) |
Y501C |
probably benign |
Het |
| Gm9847 |
G |
T |
12: 14,545,082 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
G |
9: 4,427,026 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Il6st |
C |
A |
13: 112,639,392 (GRCm39) |
H606N |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,866,174 (GRCm39) |
Q189R |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,389 (GRCm39) |
F202L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,989,978 (GRCm39) |
D55E |
probably damaging |
Het |
| Klf1 |
C |
T |
8: 85,629,775 (GRCm39) |
A200V |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,629,275 (GRCm39) |
Y497* |
probably null |
Het |
| Kng2 |
G |
T |
16: 22,816,076 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,577,611 (GRCm39) |
V245A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mss51 |
T |
C |
14: 20,537,591 (GRCm39) |
I47V |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,827,861 (GRCm39) |
T19M |
probably benign |
Het |
| Nampt |
T |
A |
12: 32,880,309 (GRCm39) |
N67K |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,107,776 (GRCm39) |
I1607K |
probably damaging |
Het |
| Nudt4 |
T |
C |
10: 95,399,600 (GRCm39) |
Q7R |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,173 (GRCm39) |
Y130H |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,802 (GRCm39) |
I255N |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,273,709 (GRCm39) |
M565L |
probably benign |
Het |
| Phactr1 |
T |
G |
13: 43,288,651 (GRCm39) |
F639V |
possibly damaging |
Het |
| Plod3 |
C |
A |
5: 137,017,571 (GRCm39) |
R165S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,193 (GRCm39) |
N164K |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,491 (GRCm39) |
G52S |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,468,382 (GRCm39) |
|
probably null |
Het |
| Rheb |
A |
G |
5: 25,012,601 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
T |
9: 75,584,092 (GRCm39) |
D136E |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,923 (GRCm39) |
L172F |
probably damaging |
Het |
| Slc35c2 |
A |
G |
2: 165,123,299 (GRCm39) |
Y113H |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,235,318 (GRCm39) |
D505V |
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,113 (GRCm39) |
D244E |
possibly damaging |
Het |
| Taar1 |
T |
C |
10: 23,797,168 (GRCm39) |
F289L |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,893,568 (GRCm39) |
N871Y |
probably damaging |
Het |
| Tmem108 |
T |
A |
9: 103,377,162 (GRCm39) |
T96S |
possibly damaging |
Het |
| Tnk2 |
G |
T |
16: 32,489,620 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
A |
9: 121,302,028 (GRCm39) |
M928K |
possibly damaging |
Het |
| Tuba3b |
A |
G |
6: 145,564,559 (GRCm39) |
I110V |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,022,281 (GRCm39) |
|
probably benign |
Het |
| Ugt1a9 |
T |
A |
1: 87,998,759 (GRCm39) |
C70S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,410 (GRCm39) |
I68K |
possibly damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,845 (GRCm39) |
E682G |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,778,481 (GRCm39) |
|
probably null |
Het |
| Zfp809 |
T |
C |
9: 22,146,434 (GRCm39) |
V41A |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,547,539 (GRCm39) |
K1574R |
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 |
|
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'- ATGAGAAACTGCTGCAGACTATG -3'
(R):5'- ATGCAACACTCTGCTCACCTG -3'
Sequencing Primer
(F):5'- TGCAGACTATGAGCGACCTTG -3'
(R):5'- CCATCTATCTGTAAGGGGATCTGAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation