Incidental Mutation 'R1376:Rimbp2'
| ID |
162879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp2
|
| Ensembl Gene |
ENSMUSG00000029420 |
| Gene Name |
RIMS binding protein 2 |
| Synonyms |
A930033C01Rik |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 128847355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 931
(P931A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143725
(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: P1006A
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: P1006A
| 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 |
possibly damaging
Transcript: ENSMUST00000196085
AA Change: P931A
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: P931A
| 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 benign
Transcript: ENSMUST00000198941
AA Change: P1006A
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: P1006A
| 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 benign
Transcript: ENSMUST00000199537
AA Change: P999A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: P999A
| 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: P999A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: P999A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 96.7%
- 10x: 90.4%
- 20x: 75.5%
|
| Validation Efficiency |
100% (3/3) |
| 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 |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTAGCCCAGACTTTCCTTGAAC -3'
(R):5'- ACCCTTCAGCTTTTGAGCAACCTG -3'
Sequencing Primer
(F):5'- agagagaaagagggagagagag -3'
(R):5'- TTTTGAGCAACCTGGGCAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation