Incidental Mutation 'R7789:Rimbp2'
ID |
599727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rimbp2
|
Ensembl Gene |
ENSMUSG00000029420 |
Gene Name |
RIMS binding protein 2 |
Synonyms |
|
MMRRC Submission |
045845-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7789 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
128757791-128953486 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128774335 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 849
(D849G)
|
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: D856G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106978 Gene: ENSMUSG00000029420 AA Change: D856G
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
AA Change: D781G
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143725 Gene: ENSMUSG00000029420 AA Change: D781G
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: D856G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142455 Gene: ENSMUSG00000029420 AA Change: D856G
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: D849G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143276 Gene: ENSMUSG00000029420 AA Change: D849G
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: D849G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143099 Gene: ENSMUSG00000029420 AA Change: D849G
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
99% (77/78) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,864,311 (GRCm38) |
E163K |
probably benign |
Het |
Adam34 |
T |
A |
8: 43,652,451 (GRCm38) |
R52S |
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,871,774 (GRCm38) |
C328* |
probably null |
Het |
Ankrd26 |
G |
T |
6: 118,527,799 (GRCm38) |
S716R |
possibly damaging |
Het |
Ankrd26 |
G |
T |
6: 118,527,798 (GRCm38) |
H717N |
probably damaging |
Het |
Ankrd40 |
C |
A |
11: 94,334,709 (GRCm38) |
P189T |
probably damaging |
Het |
Anln |
A |
G |
9: 22,352,037 (GRCm38) |
S113P |
|
Het |
Arid5b |
C |
T |
10: 68,098,587 (GRCm38) |
G495E |
probably benign |
Het |
Asxl1 |
C |
T |
2: 153,400,023 (GRCm38) |
T832I |
probably benign |
Het |
Bicd2 |
C |
T |
13: 49,379,659 (GRCm38) |
R574C |
probably damaging |
Het |
Boll |
T |
C |
1: 55,360,667 (GRCm38) |
|
probably null |
Het |
Casr |
A |
G |
16: 36,495,291 (GRCm38) |
F806L |
probably damaging |
Het |
Casz1 |
C |
A |
4: 148,929,406 (GRCm38) |
N142K |
probably benign |
Het |
Cbl |
C |
T |
9: 44,163,467 (GRCm38) |
D433N |
probably damaging |
Het |
Ceacam14 |
T |
A |
7: 17,814,171 (GRCm38) |
V62D |
probably damaging |
Het |
Chst10 |
T |
C |
1: 38,884,451 (GRCm38) |
N18S |
probably benign |
Het |
Cyp2j6 |
C |
T |
4: 96,545,716 (GRCm38) |
R119H |
probably benign |
Het |
Cyp4a14 |
C |
G |
4: 115,494,910 (GRCm38) |
V102L |
probably benign |
Het |
Dnajb3 |
A |
T |
1: 88,205,677 (GRCm38) |
M1K |
probably null |
Het |
Dnajc6 |
A |
T |
4: 101,618,532 (GRCm38) |
K534M |
possibly damaging |
Het |
Dnase2a |
T |
C |
8: 84,908,876 (GRCm38) |
|
probably null |
Het |
Dock10 |
A |
G |
1: 80,559,213 (GRCm38) |
I985T |
possibly damaging |
Het |
Emsy |
G |
T |
7: 98,621,489 (GRCm38) |
P436Q |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,654,083 (GRCm38) |
|
probably null |
Het |
Erc1 |
T |
A |
6: 119,773,709 (GRCm38) |
R353* |
probably null |
Het |
Fam196b |
T |
A |
11: 34,402,537 (GRCm38) |
M193K |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,039,313 (GRCm38) |
D2140V |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 25,562,313 (GRCm38) |
Y218* |
probably null |
Het |
Fhod1 |
C |
T |
8: 105,330,108 (GRCm38) |
R1045H |
probably damaging |
Het |
Focad |
G |
T |
4: 88,229,406 (GRCm38) |
L427F |
unknown |
Het |
Gbf1 |
T |
A |
19: 46,254,002 (GRCm38) |
L144M |
probably damaging |
Het |
Glmn |
T |
G |
5: 107,549,075 (GRCm38) |
N592T |
probably benign |
Het |
Golgb1 |
C |
G |
16: 36,875,399 (GRCm38) |
P87A |
unknown |
Het |
H2bfm |
G |
A |
X: 136,927,722 (GRCm38) |
R120K |
unknown |
Het |
Itga9 |
T |
G |
9: 118,658,496 (GRCm38) |
F216V |
possibly damaging |
Het |
Klhl18 |
T |
C |
9: 110,439,008 (GRCm38) |
D149G |
unknown |
Het |
Lcat |
C |
T |
8: 105,942,225 (GRCm38) |
V114M |
probably benign |
Het |
Lrrc8c |
C |
A |
5: 105,607,200 (GRCm38) |
N280K |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,966,462 (GRCm38) |
Y283C |
probably damaging |
Het |
Mgat4a |
A |
T |
1: 37,490,279 (GRCm38) |
I173K |
probably damaging |
Het |
Mmp1a |
T |
C |
9: 7,475,265 (GRCm38) |
V345A |
possibly damaging |
Het |
Mok |
T |
A |
12: 110,811,827 (GRCm38) |
H215L |
probably damaging |
Het |
Mphosph9 |
C |
G |
5: 124,315,587 (GRCm38) |
E221Q |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,753,930 (GRCm38) |
Q1269E |
probably benign |
Het |
Mug1 |
C |
A |
6: 121,861,220 (GRCm38) |
H470N |
possibly damaging |
Het |
Myom1 |
A |
G |
17: 71,117,436 (GRCm38) |
T1525A |
probably benign |
Het |
Nap1l1 |
C |
T |
10: 111,490,456 (GRCm38) |
S143L |
probably benign |
Het |
Olfr366 |
C |
T |
2: 37,219,660 (GRCm38) |
T57I |
probably benign |
Het |
Olfr531 |
A |
T |
7: 140,400,697 (GRCm38) |
Y116* |
probably null |
Het |
Olfr646 |
T |
A |
7: 104,106,988 (GRCm38) |
S236R |
probably damaging |
Het |
Olfr847 |
G |
T |
9: 19,375,065 (GRCm38) |
T272K |
probably benign |
Het |
Plbd2 |
T |
C |
5: 120,485,754 (GRCm38) |
S568G |
probably damaging |
Het |
Plxna4 |
T |
A |
6: 32,206,233 (GRCm38) |
|
probably null |
Het |
Plxnc1 |
T |
A |
10: 94,794,477 (GRCm38) |
E1520V |
probably damaging |
Het |
Ppil3 |
G |
A |
1: 58,434,379 (GRCm38) |
T104I |
possibly damaging |
Het |
Ptprm |
A |
T |
17: 67,095,539 (GRCm38) |
V118E |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,470,219 (GRCm38) |
|
probably null |
Het |
Sema3f |
T |
A |
9: 107,705,432 (GRCm38) |
K37N |
probably benign |
Het |
Sh3glb1 |
G |
T |
3: 144,692,131 (GRCm38) |
|
probably null |
Het |
Sh3rf3 |
A |
G |
10: 59,086,815 (GRCm38) |
D571G |
probably benign |
Het |
Sipa1l3 |
T |
C |
7: 29,377,725 (GRCm38) |
Y874C |
probably damaging |
Het |
Smchd1 |
G |
A |
17: 71,475,301 (GRCm38) |
|
probably benign |
Het |
Snrnp70 |
A |
T |
7: 45,376,621 (GRCm38) |
Y441* |
probably null |
Het |
Ssrp1 |
C |
T |
2: 85,041,181 (GRCm38) |
R316W |
probably damaging |
Het |
Syt10 |
A |
T |
15: 89,826,898 (GRCm38) |
V144E |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,488,692 (GRCm38) |
L562P |
|
Het |
Trim68 |
T |
C |
7: 102,684,469 (GRCm38) |
D2G |
possibly damaging |
Het |
Trub2 |
T |
A |
2: 29,777,908 (GRCm38) |
H240L |
probably damaging |
Het |
Tssc4 |
A |
G |
7: 143,069,778 (GRCm38) |
|
probably null |
Het |
Usp7 |
T |
A |
16: 8,698,811 (GRCm38) |
Q539L |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,452,965 (GRCm38) |
C710S |
possibly damaging |
Het |
Vmn2r99 |
G |
T |
17: 19,393,817 (GRCm38) |
V600F |
possibly damaging |
Het |
Vps13d |
C |
T |
4: 145,100,065 (GRCm38) |
V2879M |
|
Het |
Vrtn |
T |
A |
12: 84,650,306 (GRCm38) |
M610K |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,613,349 (GRCm38) |
E366G |
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,183,648 (GRCm38) |
P703S |
probably damaging |
Het |
|
Other mutations in Rimbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:Rimbp2
|
APN |
5 |
128,806,441 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01321:Rimbp2
|
APN |
5 |
128,786,752 (GRCm38) |
missense |
probably benign |
0.10 |
IGL01459:Rimbp2
|
APN |
5 |
128,788,211 (GRCm38) |
critical splice donor site |
probably null |
|
IGL01743:Rimbp2
|
APN |
5 |
128,797,848 (GRCm38) |
splice site |
probably benign |
|
IGL01975:Rimbp2
|
APN |
5 |
128,797,648 (GRCm38) |
missense |
probably benign |
0.30 |
IGL02269:Rimbp2
|
APN |
5 |
128,774,295 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02341:Rimbp2
|
APN |
5 |
128,800,961 (GRCm38) |
nonsense |
probably null |
|
IGL02368:Rimbp2
|
APN |
5 |
128,788,154 (GRCm38) |
splice site |
probably null |
|
IGL02392:Rimbp2
|
APN |
5 |
128,771,797 (GRCm38) |
missense |
probably benign |
0.01 |
IGL03156:Rimbp2
|
APN |
5 |
128,771,757 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02837:Rimbp2
|
UTSW |
5 |
128,797,745 (GRCm38) |
missense |
probably damaging |
0.98 |
PIT4418001:Rimbp2
|
UTSW |
5 |
128,780,361 (GRCm38) |
missense |
probably benign |
0.00 |
R0193:Rimbp2
|
UTSW |
5 |
128,788,356 (GRCm38) |
missense |
probably benign |
0.12 |
R0376:Rimbp2
|
UTSW |
5 |
128,803,861 (GRCm38) |
missense |
probably damaging |
0.98 |
R0377:Rimbp2
|
UTSW |
5 |
128,803,861 (GRCm38) |
missense |
probably damaging |
0.98 |
R0661:Rimbp2
|
UTSW |
5 |
128,786,710 (GRCm38) |
missense |
probably benign |
0.20 |
R1217:Rimbp2
|
UTSW |
5 |
128,788,287 (GRCm38) |
missense |
probably benign |
0.04 |
R1376:Rimbp2
|
UTSW |
5 |
128,770,291 (GRCm38) |
missense |
possibly damaging |
0.75 |
R1376:Rimbp2
|
UTSW |
5 |
128,770,291 (GRCm38) |
missense |
possibly damaging |
0.75 |
R1551:Rimbp2
|
UTSW |
5 |
128,806,359 (GRCm38) |
missense |
probably damaging |
0.97 |
R1883:Rimbp2
|
UTSW |
5 |
128,803,934 (GRCm38) |
missense |
possibly damaging |
0.93 |
R1970:Rimbp2
|
UTSW |
5 |
128,797,241 (GRCm38) |
missense |
probably damaging |
1.00 |
R2111:Rimbp2
|
UTSW |
5 |
128,773,501 (GRCm38) |
missense |
probably damaging |
1.00 |
R2120:Rimbp2
|
UTSW |
5 |
128,788,518 (GRCm38) |
missense |
probably damaging |
1.00 |
R2155:Rimbp2
|
UTSW |
5 |
128,788,165 (GRCm38) |
missense |
probably damaging |
0.99 |
R2332:Rimbp2
|
UTSW |
5 |
128,789,641 (GRCm38) |
missense |
probably benign |
0.42 |
R2370:Rimbp2
|
UTSW |
5 |
128,803,844 (GRCm38) |
missense |
probably damaging |
0.99 |
R2402:Rimbp2
|
UTSW |
5 |
128,784,888 (GRCm38) |
missense |
probably damaging |
1.00 |
R3710:Rimbp2
|
UTSW |
5 |
128,789,731 (GRCm38) |
missense |
probably benign |
0.16 |
R3877:Rimbp2
|
UTSW |
5 |
128,773,465 (GRCm38) |
missense |
probably damaging |
1.00 |
R3974:Rimbp2
|
UTSW |
5 |
128,797,798 (GRCm38) |
missense |
probably damaging |
1.00 |
R4257:Rimbp2
|
UTSW |
5 |
128,774,260 (GRCm38) |
missense |
probably damaging |
1.00 |
R4270:Rimbp2
|
UTSW |
5 |
128,819,777 (GRCm38) |
missense |
probably benign |
|
R4271:Rimbp2
|
UTSW |
5 |
128,819,777 (GRCm38) |
missense |
probably benign |
|
R4281:Rimbp2
|
UTSW |
5 |
128,788,340 (GRCm38) |
missense |
possibly damaging |
0.82 |
R4934:Rimbp2
|
UTSW |
5 |
128,788,515 (GRCm38) |
missense |
probably benign |
0.12 |
R5011:Rimbp2
|
UTSW |
5 |
128,803,921 (GRCm38) |
missense |
probably damaging |
0.98 |
R5173:Rimbp2
|
UTSW |
5 |
128,797,648 (GRCm38) |
missense |
probably benign |
0.30 |
R5288:Rimbp2
|
UTSW |
5 |
128,788,592 (GRCm38) |
missense |
probably benign |
0.00 |
R5305:Rimbp2
|
UTSW |
5 |
128,797,381 (GRCm38) |
missense |
possibly damaging |
0.69 |
R5554:Rimbp2
|
UTSW |
5 |
128,780,342 (GRCm38) |
missense |
probably damaging |
0.98 |
R6189:Rimbp2
|
UTSW |
5 |
128,803,897 (GRCm38) |
missense |
probably benign |
|
R7023:Rimbp2
|
UTSW |
5 |
128,802,783 (GRCm38) |
critical splice donor site |
probably null |
|
R7096:Rimbp2
|
UTSW |
5 |
128,774,269 (GRCm38) |
missense |
probably damaging |
0.99 |
R7451:Rimbp2
|
UTSW |
5 |
128,788,371 (GRCm38) |
missense |
probably benign |
0.00 |
R7793:Rimbp2
|
UTSW |
5 |
128,789,695 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7894:Rimbp2
|
UTSW |
5 |
128,761,464 (GRCm38) |
missense |
probably damaging |
1.00 |
R8300:Rimbp2
|
UTSW |
5 |
128,797,771 (GRCm38) |
missense |
probably damaging |
1.00 |
R8377:Rimbp2
|
UTSW |
5 |
128,780,331 (GRCm38) |
missense |
probably damaging |
1.00 |
R8894:Rimbp2
|
UTSW |
5 |
128,773,390 (GRCm38) |
missense |
possibly damaging |
0.78 |
R9002:Rimbp2
|
UTSW |
5 |
128,788,292 (GRCm38) |
missense |
probably benign |
0.11 |
R9075:Rimbp2
|
UTSW |
5 |
128,774,248 (GRCm38) |
missense |
probably damaging |
1.00 |
R9198:Rimbp2
|
UTSW |
5 |
128,806,488 (GRCm38) |
missense |
probably damaging |
0.99 |
R9709:Rimbp2
|
UTSW |
5 |
128,797,811 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Rimbp2
|
UTSW |
5 |
128,788,180 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Rimbp2
|
UTSW |
5 |
128,773,451 (GRCm38) |
missense |
probably benign |
0.01 |
Z1177:Rimbp2
|
UTSW |
5 |
128,761,339 (GRCm38) |
missense |
probably benign |
0.07 |
Z1177:Rimbp2
|
UTSW |
5 |
128,797,631 (GRCm38) |
missense |
possibly damaging |
0.89 |
Z1177:Rimbp2
|
UTSW |
5 |
128,797,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGACTTGTATGCAGAACAC -3'
(R):5'- AGATTTCTGGCCCCATGCTG -3'
Sequencing Primer
(F):5'- TACAGCCATCAGTACCTTGATG -3'
(R):5'- CATGCTGAGCCCAGACAGATG -3'
|
Posted On |
2019-11-26 |