Incidental Mutation 'R4257:Rimbp2'
| ID |
321858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp2
|
| Ensembl Gene |
ENSMUSG00000029420 |
| Gene Name |
RIMS binding protein 2 |
| Synonyms |
A930033C01Rik |
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128851324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 874
(V874A)
|
| 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: V881A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: V881A
| 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: ENSMUST00000196085
AA Change: V806A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: V806A
| 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 |
probably damaging
Transcript: ENSMUST00000198941
AA Change: V881A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: V881A
| 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: V874A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: V874A
| 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: V874A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: V874A
| 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 |
0.4650 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
|
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'- CTACTGCCCAGACTTGTATGCAG -3'
(R):5'- CTGAGCCCAGACAGATGAAG -3'
Sequencing Primer
(F):5'- GACTTGTATGCAGAACACTCCATCTC -3'
(R):5'- GCACAGGGCTGTCCTTTTCATAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation