Incidental Mutation 'R8377:Rimbp2'
ID |
646736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rimbp2
|
Ensembl Gene |
ENSMUSG00000029420 |
Gene Name |
RIMS binding protein 2 |
Synonyms |
A930033C01Rik |
MMRRC Submission |
067745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8377 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 128857395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 819
(H819Y)
|
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: H826Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106978 Gene: ENSMUSG00000029420 AA Change: H826Y
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: H751Y
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143725 Gene: ENSMUSG00000029420 AA Change: H751Y
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: H826Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142455 Gene: ENSMUSG00000029420 AA Change: H826Y
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: H819Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143276 Gene: ENSMUSG00000029420 AA Change: H819Y
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: H819Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143099 Gene: ENSMUSG00000029420 AA Change: H819Y
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: 99.7%
- 20x: 99.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot3 |
C |
A |
12: 84,105,561 (GRCm39) |
C251* |
probably null |
Het |
Acsbg1 |
A |
G |
9: 54,529,789 (GRCm39) |
C273R |
probably damaging |
Het |
Adh6a |
A |
G |
3: 138,031,884 (GRCm39) |
T259A |
probably damaging |
Het |
Aknad1 |
A |
G |
3: 108,689,255 (GRCm39) |
H639R |
possibly damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,399,937 (GRCm39) |
R342G |
probably damaging |
Het |
Arid5b |
G |
T |
10: 67,933,217 (GRCm39) |
A895E |
probably damaging |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Bmp8a |
G |
T |
4: 123,236,482 (GRCm39) |
P7Q |
unknown |
Het |
Boll |
A |
C |
1: 55,362,837 (GRCm39) |
V187G |
possibly damaging |
Het |
Ccdc162 |
A |
T |
10: 41,457,306 (GRCm39) |
C1544S |
probably benign |
Het |
Cmss1 |
A |
C |
16: 57,127,757 (GRCm39) |
M182R |
possibly damaging |
Het |
Cntn3 |
T |
C |
6: 102,186,254 (GRCm39) |
M578V |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,286,032 (GRCm39) |
W2718R |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,466,831 (GRCm39) |
I567N |
probably damaging |
Het |
Epc2 |
T |
A |
2: 49,412,527 (GRCm39) |
D168E |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,780,515 (GRCm39) |
Q162* |
probably null |
Het |
F11r |
G |
T |
1: 171,265,111 (GRCm39) |
|
probably benign |
Het |
Fcgrt |
T |
C |
7: 44,751,987 (GRCm39) |
Y59C |
probably damaging |
Het |
Fmn2 |
G |
T |
1: 174,436,011 (GRCm39) |
E661* |
probably null |
Het |
Gbp4 |
T |
A |
5: 105,266,328 (GRCm39) |
Q571L |
probably benign |
Het |
Gm29106 |
A |
T |
1: 118,126,593 (GRCm39) |
H95L |
probably damaging |
Het |
Gphn |
G |
A |
12: 78,711,280 (GRCm39) |
V621M |
probably damaging |
Het |
Grwd1 |
T |
C |
7: 45,480,036 (GRCm39) |
Y57C |
probably damaging |
Het |
Insyn2b |
C |
A |
11: 34,351,964 (GRCm39) |
A2D |
probably damaging |
Het |
Irs2 |
G |
A |
8: 11,054,848 (GRCm39) |
Q1195* |
probably null |
Het |
Itpr1 |
G |
C |
6: 108,487,699 (GRCm39) |
C2375S |
probably benign |
Het |
Kcnmb4 |
A |
T |
10: 116,282,290 (GRCm39) |
Y136N |
probably benign |
Het |
Matn2 |
C |
T |
15: 34,345,511 (GRCm39) |
P173S |
probably damaging |
Het |
Med17 |
A |
C |
9: 15,173,655 (GRCm39) |
D606E |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,301,254 (GRCm39) |
V537A |
|
Het |
Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
Mrpl21 |
T |
C |
19: 3,342,487 (GRCm39) |
F206S |
unknown |
Het |
Msh6 |
T |
A |
17: 88,292,598 (GRCm39) |
M451K |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,804,481 (GRCm39) |
I1592T |
possibly damaging |
Het |
Naip1 |
A |
T |
13: 100,562,374 (GRCm39) |
D930E |
possibly damaging |
Het |
Necap2 |
T |
C |
4: 140,795,534 (GRCm39) |
I242V |
probably benign |
Het |
Nfya |
A |
G |
17: 48,699,073 (GRCm39) |
V240A |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,496,353 (GRCm39) |
D328G |
probably damaging |
Het |
Or10ak13 |
A |
T |
4: 118,639,203 (GRCm39) |
M193K |
probably benign |
Het |
Or4k35 |
T |
A |
2: 111,099,983 (GRCm39) |
H243L |
probably damaging |
Het |
Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
Or5p53 |
T |
G |
7: 107,532,892 (GRCm39) |
L55R |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,361,982 (GRCm39) |
V1018A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,596,842 (GRCm39) |
L761P |
probably damaging |
Het |
Ppp1r36 |
T |
C |
12: 76,485,215 (GRCm39) |
S313P |
possibly damaging |
Het |
Ptpru |
C |
A |
4: 131,535,646 (GRCm39) |
G444C |
probably damaging |
Het |
Rfxank |
A |
T |
8: 70,587,960 (GRCm39) |
V149D |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,101,821 (GRCm39) |
Y395C |
probably damaging |
Het |
Siae |
G |
A |
9: 37,542,901 (GRCm39) |
|
probably null |
Het |
Slc46a2 |
T |
A |
4: 59,914,713 (GRCm39) |
D70V |
probably damaging |
Het |
Smpdl3a |
A |
C |
10: 57,677,032 (GRCm39) |
L43F |
possibly damaging |
Het |
Spcs1 |
T |
A |
14: 30,722,103 (GRCm39) |
D146V |
possibly damaging |
Het |
Srcin1 |
T |
C |
11: 97,442,804 (GRCm39) |
D8G |
probably damaging |
Het |
Stra6 |
G |
T |
9: 58,056,488 (GRCm39) |
L373F |
probably damaging |
Het |
Tacc1 |
A |
T |
8: 25,672,299 (GRCm39) |
S310T |
possibly damaging |
Het |
Tlr12 |
T |
C |
4: 128,509,566 (GRCm39) |
S895G |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,887,258 (GRCm39) |
V89A |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,488,009 (GRCm39) |
|
probably benign |
Het |
Trappc13 |
T |
G |
13: 104,297,509 (GRCm39) |
I132L |
probably benign |
Het |
Trpt1 |
C |
T |
19: 6,976,349 (GRCm39) |
Q249* |
probably null |
Het |
Tsnaxip1 |
A |
C |
8: 106,569,179 (GRCm39) |
K510Q |
probably damaging |
Het |
Usp39 |
A |
T |
6: 72,305,657 (GRCm39) |
N375K |
probably benign |
Het |
Vldlr |
T |
A |
19: 27,212,258 (GRCm39) |
C91S |
probably damaging |
Het |
Vmn1r232 |
T |
A |
17: 21,134,239 (GRCm39) |
L120F |
probably benign |
Het |
Vmn2r71 |
T |
C |
7: 85,264,707 (GRCm39) |
V13A |
probably benign |
Het |
Wdr11 |
T |
A |
7: 129,208,412 (GRCm39) |
V389E |
possibly damaging |
Het |
Wsb2 |
A |
T |
5: 117,514,766 (GRCm39) |
I321F |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,389,949 (GRCm39) |
V4841E |
unknown |
Het |
Zfy1 |
A |
T |
Y: 725,723 (GRCm39) |
F681I |
possibly damaging |
Het |
Zpld1 |
C |
A |
16: 55,067,017 (GRCm39) |
E179D |
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 |
R8300:Rimbp2
|
UTSW |
5 |
128,874,835 (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'- CAGCACTGAGTCCTGTTGTC -3'
(R):5'- CAGGTCACTCAGCTAACCTTTC -3'
Sequencing Primer
(F):5'- CTTTCTCTCAGGCATTTTACATGGGG -3'
(R):5'- GCTAACCTTTCAGTTAAAAGCTACG -3'
|
Posted On |
2020-09-02 |