Incidental Mutation 'R9198:Rimbp2'
| ID |
698036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp2
|
| Ensembl Gene |
ENSMUSG00000029420 |
| Gene Name |
RIMS binding protein 2 |
| Synonyms |
A930033C01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128883552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 76
(E76V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111346]
[ENSMUST00000196085]
[ENSMUST00000198941]
[ENSMUST00000199537]
[ENSMUST00000199737]
[ENSMUST00000200470]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111346
AA Change: E83V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: E83V
| 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 |
unknown
Transcript: ENSMUST00000196085
AA Change: E83V
|
| SMART Domains |
Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: E83V
| 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 |
possibly damaging
Transcript: ENSMUST00000198941
AA Change: E83V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: E83V
| 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: E76V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: E76V
| 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 benign
Transcript: ENSMUST00000199737
AA Change: E76V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142712
Gene: ENSMUSG00000029420
AA Change: E76V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200470
AA Change: E76V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: E76V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
97% (61/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
T |
6: 92,837,170 (GRCm39) |
S1164T |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,985,222 (GRCm39) |
I140N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,957,129 (GRCm39) |
T2832A |
probably benign |
Het |
| Brca2 |
A |
T |
5: 150,459,977 (GRCm39) |
E417D |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,831,268 (GRCm39) |
D558G |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpf |
G |
T |
1: 189,388,987 (GRCm39) |
T1615K |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,830,354 (GRCm39) |
|
probably null |
Het |
| Clec4d |
T |
C |
6: 123,251,757 (GRCm39) |
F213S |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 15,962,430 (GRCm39) |
R3255W |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,612 (GRCm39) |
D82G |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,390,885 (GRCm39) |
V187A |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,477 (GRCm39) |
Y359N |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,570 (GRCm39) |
N2914S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 118,553,303 (GRCm39) |
|
probably null |
Het |
| Fgl2 |
A |
C |
5: 21,577,920 (GRCm39) |
Q69P |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,560,780 (GRCm39) |
I132F |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,743 (GRCm39) |
C332R |
probably damaging |
Het |
| Gm15737 |
A |
T |
6: 92,856,640 (GRCm39) |
E23V |
unknown |
Het |
| Gm5111 |
A |
G |
6: 48,567,037 (GRCm39) |
H84R |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,355,619 (GRCm39) |
S991N |
probably benign |
Het |
| H2-M10.3 |
A |
G |
17: 36,678,919 (GRCm39) |
Y50H |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,005,621 (GRCm39) |
H740Y |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,351,872 (GRCm39) |
S860R |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,362,461 (GRCm39) |
T217S |
possibly damaging |
Het |
| Lrrc2 |
G |
T |
9: 110,791,722 (GRCm39) |
C158F |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,938,854 (GRCm39) |
D242G |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,133,854 (GRCm39) |
M1557L |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,924 (GRCm39) |
E594G |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,198,544 (GRCm39) |
L345P |
probably damaging |
Het |
| Mmp24 |
A |
G |
2: 155,640,041 (GRCm39) |
R124G |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,406,797 (GRCm39) |
H240L |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,256 (GRCm39) |
D203A |
probably benign |
Het |
| Nt5c3 |
T |
C |
6: 56,859,955 (GRCm39) |
Q328R |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,232,850 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
A |
T |
14: 50,377,990 (GRCm39) |
Y35* |
probably null |
Het |
| Or52ac1 |
T |
A |
7: 104,245,635 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,211 (GRCm39) |
W588* |
probably null |
Het |
| Pask |
A |
T |
1: 93,265,205 (GRCm39) |
S17T |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,491,084 (GRCm39) |
R170K |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,069,937 (GRCm39) |
C960R |
unknown |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,524,163 (GRCm39) |
L451P |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,015,557 (GRCm39) |
N818S |
probably benign |
Het |
| Ryk |
A |
T |
9: 102,758,854 (GRCm39) |
I248F |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,168 (GRCm39) |
Q661R |
possibly damaging |
Het |
| Siae |
T |
C |
9: 37,539,105 (GRCm39) |
V172A |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,377 (GRCm39) |
S9P |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,795,179 (GRCm39) |
E456G |
unknown |
Het |
| Srgap3 |
C |
T |
6: 112,743,865 (GRCm39) |
A458T |
probably damaging |
Het |
| Tgfbrap1 |
T |
A |
1: 43,093,799 (GRCm39) |
R564S |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 123,004,143 (GRCm39) |
Y204H |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,962,276 (GRCm39) |
Y527H |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,600,524 (GRCm39) |
*1092K |
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,987 (GRCm39) |
M545K |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,080,689 (GRCm39) |
|
probably null |
Het |
| Zscan22 |
G |
T |
7: 12,641,130 (GRCm39) |
R458L |
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 |
|
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 |
|
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 |
|
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'- AACCTGGGTTGTCCACAGTC -3'
(R):5'- ACAGCCTATCATATGCACGC -3'
Sequencing Primer
(F):5'- GCAGTAGGTCCTTATACTCTCAG -3'
(R):5'- GCACACTCACATTCTTAAAAGGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation