Incidental Mutation 'R9320:Ripor2'
| ID |
706115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripor2
|
| Ensembl Gene |
ENSMUSG00000036006 |
| Gene Name |
RHO family interacting cell polarization regulator 2 |
| Synonyms |
1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R9320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
24685513-24917789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24915663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1078
(F1078L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110383]
[ENSMUST00000110384]
|
| AlphaFold |
Q80U16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110383
AA Change: F1053L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: F1053L
| 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: F1078L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: F1078L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,320 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,833,471 (GRCm39) |
M8K |
possibly damaging |
Het |
| Ablim3 |
C |
A |
18: 61,972,805 (GRCm39) |
R238L |
probably damaging |
Het |
| Adar |
T |
A |
3: 89,658,368 (GRCm39) |
Y1141* |
probably null |
Het |
| Arid2 |
T |
C |
15: 96,269,067 (GRCm39) |
I1060T |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,774 (GRCm39) |
V397D |
possibly damaging |
Het |
| Astn2 |
A |
G |
4: 66,322,386 (GRCm39) |
V71A |
unknown |
Het |
| Bcat2 |
A |
G |
7: 45,234,542 (GRCm39) |
D141G |
probably damaging |
Het |
| Bicdl1 |
C |
A |
5: 115,862,769 (GRCm39) |
R162L |
probably damaging |
Het |
| Btbd17 |
A |
G |
11: 114,684,910 (GRCm39) |
I43T |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,977,019 (GRCm39) |
C698* |
probably null |
Het |
| Calr |
T |
A |
8: 85,572,629 (GRCm39) |
K87* |
probably null |
Het |
| Cap2 |
C |
T |
13: 46,768,818 (GRCm39) |
T208I |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,364,780 (GRCm39) |
M1630L |
probably benign |
Het |
| Copg1 |
T |
G |
6: 87,887,072 (GRCm39) |
S816A |
possibly damaging |
Het |
| Csf2ra |
C |
A |
19: 61,215,280 (GRCm39) |
A112S |
possibly damaging |
Het |
| Cwc27 |
T |
A |
13: 104,933,799 (GRCm39) |
H241L |
probably benign |
Het |
| Dgki |
T |
A |
6: 36,892,422 (GRCm39) |
E852V |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,868,521 (GRCm39) |
|
probably null |
Het |
| Dynlrb1 |
T |
C |
2: 155,089,860 (GRCm39) |
|
probably null |
Het |
| Ehhadh |
C |
T |
16: 21,592,281 (GRCm39) |
V141I |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,194,044 (GRCm39) |
L865P |
probably damaging |
Het |
| Fam83h |
T |
A |
15: 75,873,924 (GRCm39) |
T1138S |
possibly damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,912 (GRCm39) |
W320R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,260 (GRCm39) |
K282M |
probably benign |
Het |
| Gnai2 |
G |
A |
9: 107,492,913 (GRCm39) |
T330I |
|
Het |
| Gpr107 |
T |
C |
2: 31,078,728 (GRCm39) |
S388P |
possibly damaging |
Het |
| Il1a |
T |
G |
2: 129,142,654 (GRCm39) |
M264L |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,951 (GRCm39) |
I693F |
probably damaging |
Het |
| Jak3 |
A |
T |
8: 72,134,265 (GRCm39) |
N456Y |
probably benign |
Het |
| Krcc1 |
A |
G |
6: 71,261,457 (GRCm39) |
E163G |
probably benign |
Het |
| Lctl |
A |
G |
9: 64,040,455 (GRCm39) |
Y466C |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,357 (GRCm39) |
S472T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,335,111 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
A |
10: 103,057,144 (GRCm39) |
M219L |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,216,741 (GRCm39) |
D184E |
probably damaging |
Het |
| Mrgpra9 |
G |
A |
7: 46,885,392 (GRCm39) |
R92C |
probably benign |
Het |
| Mroh4 |
G |
A |
15: 74,483,405 (GRCm39) |
T644I |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,369,255 (GRCm39) |
A3114V |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,029,152 (GRCm39) |
M1197L |
|
Het |
| Naga |
C |
T |
15: 82,221,084 (GRCm39) |
G71S |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,199,088 (GRCm39) |
|
probably null |
Het |
| Nsun6 |
T |
C |
2: 15,047,048 (GRCm39) |
T101A |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,144,084 (GRCm39) |
|
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,326 (GRCm39) |
D106V |
probably damaging |
Het |
| Pdlim5 |
G |
A |
3: 141,953,109 (GRCm39) |
P529L |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,755,843 (GRCm39) |
L1111P |
possibly damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,221 (GRCm39) |
D40G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,610,336 (GRCm39) |
D2312G |
probably damaging |
Het |
| Siglecg |
T |
A |
7: 43,058,853 (GRCm39) |
I202N |
probably benign |
Het |
| Slco4c1 |
G |
T |
1: 96,795,644 (GRCm39) |
S138* |
probably null |
Het |
| Snx27 |
T |
C |
3: 94,431,593 (GRCm39) |
Y267C |
probably damaging |
Het |
| Sphk2 |
C |
T |
7: 45,361,179 (GRCm39) |
R275H |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,655,793 (GRCm39) |
V432E |
possibly damaging |
Het |
| Tecrl |
C |
T |
5: 83,428,422 (GRCm39) |
S283N |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,474 (GRCm39) |
E2354D |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,822 (GRCm39) |
V186A |
possibly damaging |
Het |
| Try4 |
T |
C |
6: 41,282,008 (GRCm39) |
|
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,727,000 (GRCm39) |
G1248V |
probably benign |
Het |
| Umod |
C |
T |
7: 119,065,355 (GRCm39) |
G558E |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,171,044 (GRCm39) |
F624S |
unknown |
Het |
| Uvssa |
T |
G |
5: 33,547,365 (GRCm39) |
D310E |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,284 (GRCm39) |
F8L |
probably benign |
Het |
| Zfp268 |
C |
G |
4: 145,349,156 (GRCm39) |
Q198E |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,517 (GRCm39) |
C412S |
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 |
|
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 |
|
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'- GAACTGTGCAGAAAGTTTCCATAG -3'
(R):5'- GTCAGTCAAAACTACGATGCAGTC -3'
Sequencing Primer
(F):5'- GCAGAAAGTTTCCATAGCACAGTTC -3'
(R):5'- AGGGAGTTATACACAGCCCTGTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation