Incidental Mutation 'R8300:Rimbp2'
| ID |
639196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp2
|
| Ensembl Gene |
ENSMUSG00000029420 |
| Gene Name |
RIMS binding protein 2 |
| Synonyms |
A930033C01Rik |
| MMRRC Submission |
067788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128874835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 252
(R252Q)
|
| 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: R259Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: R259Q
| 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: R259Q
|
| SMART Domains |
Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: R259Q
| 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: R259Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: R259Q
| 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: R252Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: R252Q
| 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: R252Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: R252Q
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
G |
9: 21,437,561 (GRCm39) |
M1V |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,353,123 (GRCm39) |
N773I |
possibly damaging |
Het |
| Adh7 |
A |
G |
3: 137,929,825 (GRCm39) |
E167G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,804,555 (GRCm39) |
D622V |
|
Het |
| Asf1b |
T |
A |
8: 84,695,805 (GRCm39) |
F149I |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,515,996 (GRCm39) |
V179A |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,498,597 (GRCm39) |
A430V |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,717 (GRCm39) |
Q1944L |
|
Het |
| Camkk1 |
T |
C |
11: 72,918,266 (GRCm39) |
V158A |
probably benign |
Het |
| Ccdc152 |
T |
C |
15: 3,327,634 (GRCm39) |
T48A |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,841,301 (GRCm39) |
M116L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,804,692 (GRCm39) |
G12R |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,941,671 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,011,385 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,285 (GRCm39) |
V238E |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,286 (GRCm39) |
V238I |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,198,333 (GRCm39) |
M276L |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,672 (GRCm39) |
S222P |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,283,932 (GRCm39) |
D269G |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,342,687 (GRCm39) |
R64Q |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,857,689 (GRCm39) |
K622M |
probably damaging |
Het |
| Gm10220 |
T |
C |
5: 26,322,818 (GRCm39) |
E198G |
probably damaging |
Het |
| Gm1527 |
A |
T |
3: 28,980,744 (GRCm39) |
N615Y |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,307,140 (GRCm39) |
H308R |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,766,790 (GRCm39) |
I261T |
probably damaging |
Het |
| Gsg1 |
T |
G |
6: 135,214,580 (GRCm39) |
T310P |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,926,775 (GRCm39) |
S1075G |
probably null |
Het |
| Hyal6 |
A |
G |
6: 24,734,087 (GRCm39) |
T7A |
probably benign |
Het |
| Ighv1-59 |
T |
G |
12: 115,298,987 (GRCm39) |
Q22H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,643 (GRCm39) |
M1853K |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,762 (GRCm39) |
I237T |
probably benign |
Het |
| Mccc1 |
A |
T |
3: 36,017,753 (GRCm39) |
M649K |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,692,352 (GRCm39) |
D399G |
|
Het |
| Obscn |
T |
C |
11: 58,933,896 (GRCm39) |
K5323E |
probably benign |
Het |
| Or6p1 |
T |
A |
1: 174,258,100 (GRCm39) |
Y35* |
probably null |
Het |
| Paics |
T |
C |
5: 77,109,253 (GRCm39) |
V196A |
probably damaging |
Het |
| Pced1a |
C |
A |
2: 130,266,157 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
A |
T |
2: 28,352,435 (GRCm39) |
Y109* |
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,928,711 (GRCm39) |
V848A |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,618,118 (GRCm39) |
N92K |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,571 (GRCm39) |
I152N |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,319,967 (GRCm39) |
M442T |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,301,942 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,399,773 (GRCm39) |
K220R |
probably benign |
Het |
| Qrich2 |
G |
T |
11: 116,347,175 (GRCm39) |
D1216E |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,833 (GRCm39) |
|
silent |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,211,397 (GRCm39) |
H117R |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,456 (GRCm39) |
D206G |
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,854,792 (GRCm39) |
V1302M |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,139,374 (GRCm39) |
E780G |
possibly damaging |
Het |
| Snrpg |
T |
A |
6: 86,353,558 (GRCm39) |
V46E |
probably damaging |
Het |
| Spef1l |
A |
T |
7: 139,557,091 (GRCm39) |
I98N |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,058 (GRCm39) |
Q953L |
noncoding transcript |
Het |
| Stard9 |
C |
T |
2: 120,535,250 (GRCm39) |
L3836F |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,137 (GRCm39) |
M619K |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf9 |
C |
T |
4: 151,017,556 (GRCm39) |
T137M |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,289,565 (GRCm39) |
E626* |
probably null |
Het |
| Trio |
G |
T |
15: 27,855,108 (GRCm39) |
H750Q |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,070,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,347 (GRCm39) |
I451V |
probably benign |
Het |
| Zfp930 |
A |
T |
8: 69,680,998 (GRCm39) |
N230I |
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 |
|
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 |
|
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'- GTAAGGCACGGTGTCTTCTC -3'
(R):5'- TTGAACTAGGAAACCACACTGGG -3'
Sequencing Primer
(F):5'- GGTGTCTTCTCCGATGTCGTC -3'
(R):5'- CTAGGAAACCACACTGGGCAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation