Incidental Mutation 'R5554:Rimbp2'
ID |
435281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rimbp2
|
Ensembl Gene |
ENSMUSG00000029420 |
Gene Name |
RIMS binding protein 2 |
Synonyms |
A930033C01Rik |
MMRRC Submission |
043111-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5554 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128857406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 815
(D815G)
|
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 |
possibly damaging
Transcript: ENSMUST00000111346
AA Change: D822G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106978 Gene: ENSMUSG00000029420 AA Change: D822G
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: D747G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143725 Gene: ENSMUSG00000029420 AA Change: D747G
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 |
noncoding transcript
Transcript: ENSMUST00000197674
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198941
AA Change: D822G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142455 Gene: ENSMUSG00000029420 AA Change: D822G
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 |
noncoding transcript
Transcript: ENSMUST00000199333
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199537
AA Change: D815G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143276 Gene: ENSMUSG00000029420 AA Change: D815G
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 |
possibly damaging
Transcript: ENSMUST00000200470
AA Change: D815G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143099 Gene: ENSMUSG00000029420 AA Change: D815G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (73/75) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
Fndc3b |
G |
T |
3: 27,697,162 (GRCm39) |
P17T |
possibly damaging |
Het |
Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
Gm12258 |
T |
A |
11: 58,749,294 (GRCm39) |
S156R |
possibly damaging |
Het |
Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
Patj |
T |
A |
4: 98,342,633 (GRCm39) |
S576T |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,339,860 (GRCm39) |
N38K |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,208 (GRCm39) |
M325K |
probably benign |
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 |
R2402:Rimbp2
|
UTSW |
5 |
128,861,952 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTCTCAGGCATTTTACATGGGG -3'
(R):5'- ATATGGAAAGCAGGGCCCTG -3'
Sequencing Primer
(F):5'- CATTTTACATGGGGGCCAAAGTCC -3'
(R):5'- AGGTCACTCAGCTAACCTTTCAG -3'
|
Posted On |
2016-10-24 |