Incidental Mutation 'R2402:Rimbp2'
| ID |
248736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp2
|
| Ensembl Gene |
ENSMUSG00000029420 |
| Gene Name |
RIMS binding protein 2 |
| Synonyms |
A930033C01Rik |
| MMRRC Submission |
040368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128861952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 771
(D771G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111346]
[ENSMUST00000196085]
[ENSMUST00000198941]
[ENSMUST00000199537]
[ENSMUST00000200470]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111346
AA Change: D778G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: D778G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
187 |
N/A |
INTRINSIC |
|
SH3
|
191 |
254 |
1.61e-11 |
SMART |
|
FN3
|
318 |
398 |
1.52e-1 |
SMART |
|
FN3
|
412 |
484 |
3.59e-3 |
SMART |
|
FN3
|
508 |
594 |
3.08e-2 |
SMART |
|
low complexity region
|
598 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
842 |
N/A |
INTRINSIC |
|
SH3
|
878 |
942 |
5.24e-11 |
SMART |
|
SH3
|
982 |
1045 |
7.17e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196085
AA Change: D703G
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: D703G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
187 |
N/A |
INTRINSIC |
|
SH3
|
191 |
254 |
1e-13 |
SMART |
|
FN3
|
318 |
398 |
7.7e-4 |
SMART |
|
FN3
|
412 |
484 |
1.7e-5 |
SMART |
|
FN3
|
508 |
594 |
1.6e-4 |
SMART |
|
low complexity region
|
598 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
767 |
N/A |
INTRINSIC |
|
SH3
|
803 |
867 |
3.2e-13 |
SMART |
|
SH3
|
907 |
970 |
4.5e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198941
AA Change: D778G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: D778G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
187 |
N/A |
INTRINSIC |
|
SH3
|
191 |
254 |
1.61e-11 |
SMART |
|
FN3
|
318 |
398 |
1.52e-1 |
SMART |
|
FN3
|
412 |
484 |
3.59e-3 |
SMART |
|
FN3
|
508 |
594 |
3.08e-2 |
SMART |
|
low complexity region
|
598 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
842 |
N/A |
INTRINSIC |
|
SH3
|
878 |
942 |
5.24e-11 |
SMART |
|
SH3
|
982 |
1045 |
7.17e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199537
AA Change: D771G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: D771G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
SH3
|
184 |
247 |
1.61e-11 |
SMART |
|
FN3
|
311 |
391 |
1.52e-1 |
SMART |
|
FN3
|
405 |
477 |
3.59e-3 |
SMART |
|
FN3
|
501 |
587 |
3.08e-2 |
SMART |
|
low complexity region
|
591 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
835 |
N/A |
INTRINSIC |
|
SH3
|
871 |
935 |
5.24e-11 |
SMART |
|
SH3
|
975 |
1038 |
7.17e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200470
AA Change: D771G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: D771G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
|
SH3
|
184 |
247 |
9.8e-14 |
SMART |
|
FN3
|
311 |
391 |
7.5e-4 |
SMART |
|
FN3
|
405 |
477 |
1.7e-5 |
SMART |
|
FN3
|
501 |
587 |
1.5e-4 |
SMART |
|
low complexity region
|
591 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
670 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
835 |
N/A |
INTRINSIC |
|
SH3
|
871 |
935 |
3.2e-13 |
SMART |
|
SH3
|
975 |
1038 |
4.4e-20 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout results in a mild neurological phenotype with changes in the synaptic transmission and plasticity of hippocampal neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
| Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
| Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
| Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
| Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,632,461 (GRCm39) |
S297P |
probably damaging |
Het |
| Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
| Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
| Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
| Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
| Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
| Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
| Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
| Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
| Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
| Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
| Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
| Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
| Rhobtb1 |
G |
A |
10: 69,106,254 (GRCm39) |
G273D |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,763,792 (GRCm39) |
N397K |
probably damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
| Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
| Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
| Zbtb41 |
A |
C |
1: 139,350,923 (GRCm39) |
D12A |
probably benign |
Het |
| Zbtb41 |
G |
T |
1: 139,350,925 (GRCm39) |
E13* |
probably null |
Het |
| Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
probably damaging |
Het |
|
| Other mutations in Rimbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Rimbp2
|
APN |
5 |
128,883,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01321:Rimbp2
|
APN |
5 |
128,863,816 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01459:Rimbp2
|
APN |
5 |
128,865,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01743:Rimbp2
|
APN |
5 |
128,874,912 (GRCm39) |
splice site |
probably benign |
|
|
IGL01975:Rimbp2
|
APN |
5 |
128,874,712 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02269:Rimbp2
|
APN |
5 |
128,851,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Rimbp2
|
APN |
5 |
128,878,025 (GRCm39) |
nonsense |
probably null |
|
|
IGL02368:Rimbp2
|
APN |
5 |
128,865,218 (GRCm39) |
splice site |
probably null |
|
|
IGL02392:Rimbp2
|
APN |
5 |
128,848,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03156:Rimbp2
|
APN |
5 |
128,848,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Rimbp2
|
UTSW |
5 |
128,874,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4418001:Rimbp2
|
UTSW |
5 |
128,857,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Rimbp2
|
UTSW |
5 |
128,865,420 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0376:Rimbp2
|
UTSW |
5 |
128,880,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0377:Rimbp2
|
UTSW |
5 |
128,880,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0661:Rimbp2
|
UTSW |
5 |
128,863,774 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1217:Rimbp2
|
UTSW |
5 |
128,865,351 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1376:Rimbp2
|
UTSW |
5 |
128,847,355 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1376:Rimbp2
|
UTSW |
5 |
128,847,355 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1551:Rimbp2
|
UTSW |
5 |
128,883,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1883:Rimbp2
|
UTSW |
5 |
128,880,998 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1970:Rimbp2
|
UTSW |
5 |
128,874,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Rimbp2
|
UTSW |
5 |
128,850,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Rimbp2
|
UTSW |
5 |
128,865,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Rimbp2
|
UTSW |
5 |
128,865,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2332:Rimbp2
|
UTSW |
5 |
128,866,705 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2370:Rimbp2
|
UTSW |
5 |
128,880,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Rimbp2
|
UTSW |
5 |
128,866,795 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3877:Rimbp2
|
UTSW |
5 |
128,850,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Rimbp2
|
UTSW |
5 |
128,874,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4257:Rimbp2
|
UTSW |
5 |
128,851,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Rimbp2
|
UTSW |
5 |
128,896,841 (GRCm39) |
missense |
probably benign |
|
|
R4271:Rimbp2
|
UTSW |
5 |
128,896,841 (GRCm39) |
missense |
probably benign |
|
|
R4281:Rimbp2
|
UTSW |
5 |
128,865,404 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4934:Rimbp2
|
UTSW |
5 |
128,865,579 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5011:Rimbp2
|
UTSW |
5 |
128,880,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5173:Rimbp2
|
UTSW |
5 |
128,874,712 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5288:Rimbp2
|
UTSW |
5 |
128,865,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5305:Rimbp2
|
UTSW |
5 |
128,874,445 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5554:Rimbp2
|
UTSW |
5 |
128,857,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6189:Rimbp2
|
UTSW |
5 |
128,880,961 (GRCm39) |
missense |
probably benign |
|
|
R7023:Rimbp2
|
UTSW |
5 |
128,879,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7096:Rimbp2
|
UTSW |
5 |
128,851,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7451:Rimbp2
|
UTSW |
5 |
128,865,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7789:Rimbp2
|
UTSW |
5 |
128,851,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7793:Rimbp2
|
UTSW |
5 |
128,866,759 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7894:Rimbp2
|
UTSW |
5 |
128,838,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Rimbp2
|
UTSW |
5 |
128,874,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Rimbp2
|
UTSW |
5 |
128,857,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Rimbp2
|
UTSW |
5 |
128,850,454 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9002:Rimbp2
|
UTSW |
5 |
128,865,356 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9075:Rimbp2
|
UTSW |
5 |
128,851,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Rimbp2
|
UTSW |
5 |
128,883,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9709:Rimbp2
|
UTSW |
5 |
128,874,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rimbp2
|
UTSW |
5 |
128,865,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rimbp2
|
UTSW |
5 |
128,850,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Rimbp2
|
UTSW |
5 |
128,838,403 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Rimbp2
|
UTSW |
5 |
128,874,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Rimbp2
|
UTSW |
5 |
128,874,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCTAACTGCACTTGTGG -3'
(R):5'- AGCCTGACATGTACAGGATG -3'
Sequencing Primer
(F):5'- CCTAACTGCACTTGTGGAATAATCC -3'
(R):5'- AGCCCTTTCAGAAGACTCGGATTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation