Incidental Mutation 'PIT4418001:Rimbp2'
ID |
555576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rimbp2
|
Ensembl Gene |
ENSMUSG00000029420 |
Gene Name |
RIMS binding protein 2 |
Synonyms |
A930033C01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4418001 (G1)
|
Quality Score |
208.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
128834855-129030550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128857425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 809
(T809S)
|
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 benign
Transcript: ENSMUST00000111346
AA Change: T816S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106978 Gene: ENSMUSG00000029420 AA Change: T816S
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: T741S
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143725 Gene: ENSMUSG00000029420 AA Change: T741S
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 benign
Transcript: ENSMUST00000198941
AA Change: T816S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142455 Gene: ENSMUSG00000029420 AA Change: T816S
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: ENSMUST00000199537
AA Change: T809S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000143276 Gene: ENSMUSG00000029420 AA Change: T809S
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: T809S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143099 Gene: ENSMUSG00000029420 AA Change: T809S
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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
T |
C |
6: 88,816,630 (GRCm39) |
Y100C |
possibly damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,161,961 (GRCm39) |
Y365H |
probably damaging |
Het |
Atad2b |
A |
T |
12: 5,074,587 (GRCm39) |
I1049F |
probably benign |
Het |
Atg9b |
A |
T |
5: 24,590,513 (GRCm39) |
S859T |
possibly damaging |
Het |
Banp |
G |
A |
8: 122,732,365 (GRCm39) |
A380T |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,631,384 (GRCm39) |
E1155G |
|
Het |
Capn12 |
T |
C |
7: 28,585,961 (GRCm39) |
S270P |
probably benign |
Het |
Cbs |
A |
T |
17: 31,834,495 (GRCm39) |
I498N |
possibly damaging |
Het |
Cep68 |
T |
C |
11: 20,189,731 (GRCm39) |
K427R |
probably benign |
Het |
Cobl |
G |
A |
11: 12,206,240 (GRCm39) |
T545I |
possibly damaging |
Het |
Cr2 |
T |
A |
1: 194,839,760 (GRCm39) |
M556L |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,932,689 (GRCm39) |
S1068P |
probably benign |
Het |
D2hgdh |
C |
T |
1: 93,766,590 (GRCm39) |
H385Y |
possibly damaging |
Het |
Dennd1b |
T |
C |
1: 139,008,999 (GRCm39) |
L159P |
|
Het |
Dnajb4 |
A |
T |
3: 151,899,134 (GRCm39) |
F31I |
possibly damaging |
Het |
Dnajc16 |
A |
G |
4: 141,498,260 (GRCm39) |
F369S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,273,429 (GRCm39) |
L493H |
possibly damaging |
Het |
Efcab5 |
T |
A |
11: 77,022,877 (GRCm39) |
Q612L |
possibly damaging |
Het |
Efr3b |
A |
T |
12: 4,030,490 (GRCm39) |
L407Q |
possibly damaging |
Het |
Ehbp1 |
T |
A |
11: 22,003,494 (GRCm39) |
Q1085L |
probably damaging |
Het |
Ell |
T |
C |
8: 71,034,331 (GRCm39) |
V199A |
probably damaging |
Het |
Elmod2 |
G |
T |
8: 84,048,171 (GRCm39) |
T97K |
probably benign |
Het |
Epn3 |
T |
C |
11: 94,386,956 (GRCm39) |
E138G |
probably damaging |
Het |
Esf1 |
A |
T |
2: 140,001,697 (GRCm39) |
F383L |
probably benign |
Het |
Fam193a |
A |
T |
5: 34,597,879 (GRCm39) |
T559S |
probably damaging |
Het |
Galr2 |
T |
C |
11: 116,174,084 (GRCm39) |
V238A |
probably benign |
Het |
Gm3476 |
T |
C |
14: 6,118,411 (GRCm38) |
I237M |
probably benign |
Het |
Gm5160 |
A |
T |
18: 14,558,339 (GRCm39) |
I139F |
probably damaging |
Het |
Gpr15 |
T |
C |
16: 58,538,313 (GRCm39) |
T259A |
probably benign |
Het |
Iffo1 |
A |
G |
6: 125,126,746 (GRCm39) |
K293E |
possibly damaging |
Het |
Ikbip |
T |
A |
10: 90,932,395 (GRCm39) |
H346Q |
probably benign |
Het |
Il4ra |
G |
A |
7: 125,175,510 (GRCm39) |
G573S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,125 (GRCm39) |
M141K |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,664,414 (GRCm39) |
S517P |
probably benign |
Het |
Itprid1 |
T |
G |
6: 55,945,330 (GRCm39) |
S684A |
probably damaging |
Het |
Kcnab1 |
A |
G |
3: 65,265,741 (GRCm39) |
E295G |
probably benign |
Het |
Klhl21 |
A |
C |
4: 152,099,835 (GRCm39) |
Y515S |
possibly damaging |
Het |
Lcn9 |
A |
T |
2: 25,714,553 (GRCm39) |
Y139F |
probably damaging |
Het |
Mcemp1 |
G |
T |
8: 3,717,052 (GRCm39) |
L64F |
probably null |
Het |
Mos |
T |
C |
4: 3,870,814 (GRCm39) |
D334G |
possibly damaging |
Het |
Myo9b |
T |
G |
8: 71,775,591 (GRCm39) |
F338V |
probably damaging |
Het |
Nefl |
G |
A |
14: 68,323,979 (GRCm39) |
V406M |
probably damaging |
Het |
Nfam1 |
C |
A |
15: 82,885,689 (GRCm39) |
R181L |
probably damaging |
Het |
Ntn5 |
A |
G |
7: 45,335,925 (GRCm39) |
R119G |
probably damaging |
Het |
Or12e10 |
G |
T |
2: 87,640,938 (GRCm39) |
C258F |
probably damaging |
Het |
Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
Or7a40 |
T |
C |
16: 16,491,719 (GRCm39) |
N42S |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,073,960 (GRCm39) |
V914E |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,504,266 (GRCm39) |
Q111R |
probably null |
Het |
Ptchd3 |
T |
A |
11: 121,732,566 (GRCm39) |
Y485* |
probably null |
Het |
Ptchd4 |
T |
A |
17: 42,813,980 (GRCm39) |
I627N |
probably damaging |
Het |
Retnlb |
T |
C |
16: 48,637,631 (GRCm39) |
V19A |
probably benign |
Het |
Sema6c |
T |
A |
3: 95,077,401 (GRCm39) |
D404E |
possibly damaging |
Het |
Slc22a16 |
C |
T |
10: 40,479,821 (GRCm39) |
A631V |
unknown |
Het |
Snai3 |
A |
T |
8: 123,183,073 (GRCm39) |
H157Q |
probably benign |
Het |
Snx15 |
T |
C |
19: 6,173,961 (GRCm39) |
Y52C |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,535,504 (GRCm39) |
E68G |
probably benign |
Het |
Sun1 |
T |
A |
5: 139,212,343 (GRCm39) |
D155E |
probably damaging |
Het |
Susd2 |
T |
C |
10: 75,474,183 (GRCm39) |
D627G |
probably benign |
Het |
Tas2r108 |
T |
A |
6: 40,470,614 (GRCm39) |
I30K |
probably damaging |
Het |
Tmc2 |
T |
C |
2: 130,090,571 (GRCm39) |
V639A |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,424,299 (GRCm39) |
Y445H |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,597,554 (GRCm39) |
N19786K |
probably damaging |
Het |
Vmn1r79 |
T |
G |
7: 11,910,766 (GRCm39) |
V216G |
probably damaging |
Het |
Wdr64 |
C |
A |
1: 175,571,160 (GRCm39) |
Y331* |
probably null |
Het |
Zfyve28 |
A |
T |
5: 34,390,721 (GRCm39) |
V180E |
probably damaging |
Het |
Zic4 |
C |
T |
9: 91,261,447 (GRCm39) |
T234I |
possibly 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 |
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 |
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'- TCTCTCAGGCATTTTACATGGG -3'
(R):5'- ATATGGAAAGCAGGGCCCTG -3'
Sequencing Primer
(F):5'- CATTTTACATGGGGGCCAAAGTCC -3'
(R):5'- GCTGGCTTCTCCCCCAGG -3'
|
Posted On |
2019-06-07 |