Incidental Mutation 'IGL01321:Rimbp2'
ID |
74061 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rimbp2
|
Ensembl Gene |
ENSMUSG00000029420 |
Gene Name |
RIMS binding protein 2 |
Synonyms |
A930033C01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01321
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128863816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 724
(Y724C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111346]
[ENSMUST00000196085]
[ENSMUST00000198941]
[ENSMUST00000199537]
[ENSMUST00000200470]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111346
AA Change: Y724C
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106978 Gene: ENSMUSG00000029420 AA Change: Y724C
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
|
SMART Domains |
Protein: ENSMUSP00000143725 Gene: ENSMUSG00000029420
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 benign
Transcript: ENSMUST00000198941
AA Change: Y724C
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142455 Gene: ENSMUSG00000029420 AA Change: Y724C
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: ENSMUST00000199537
AA Change: Y717C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143276 Gene: ENSMUSG00000029420 AA Change: Y717C
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: ENSMUST00000200470
AA Change: Y717C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000143099 Gene: ENSMUSG00000029420 AA Change: Y717C
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,156,280 (GRCm39) |
S86G |
possibly damaging |
Het |
Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,749,031 (GRCm39) |
D40G |
probably damaging |
Het |
Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
Nipsnap2 |
T |
A |
5: 129,834,205 (GRCm39) |
*282R |
probably null |
Het |
Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,070,611 (GRCm39) |
D5V |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
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 |
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 |
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 |
|
Posted On |
2013-10-07 |