Incidental Mutation 'IGL02368:Rimbp2'
ID 290824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimbp2
Ensembl Gene ENSMUSG00000029420
Gene Name RIMS binding protein 2
Synonyms A930033C01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02368
Quality Score
Status
Chromosome 5
Chromosomal Location 128834855-129030550 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 128865218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111346] [ENSMUST00000196085] [ENSMUST00000198941] [ENSMUST00000199537] [ENSMUST00000200470]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000111346
SMART Domains Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000198941
SMART Domains Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000199537
SMART Domains Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000200470
SMART Domains Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420

DomainStartEndE-ValueType
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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A G 18: 69,083,060 (GRCm39) probably benign Het
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Aldh4a1 G A 4: 139,375,511 (GRCm39) W540* probably null Het
Antxr2 G A 5: 98,097,057 (GRCm39) P352L probably damaging Het
Atic C T 1: 71,603,724 (GRCm39) probably benign Het
Cfhr1 A G 1: 139,475,551 (GRCm39) probably benign Het
Clspn T C 4: 126,459,900 (GRCm39) S207P probably benign Het
Depdc1b A C 13: 108,500,113 (GRCm39) T209P probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Eya2 T A 2: 165,605,638 (GRCm39) D347E probably damaging Het
Gm10748 G T 3: 5,280,061 (GRCm39) probably benign Het
Gm17079 T C 14: 51,930,524 (GRCm39) N107S possibly damaging Het
Gpr68 A G 12: 100,845,026 (GRCm39) F173L probably damaging Het
Hgf G T 5: 16,769,792 (GRCm39) V89F possibly damaging Het
Igsf10 A T 3: 59,235,652 (GRCm39) S1510T probably benign Het
Il4 A T 11: 53,503,463 (GRCm39) N22K probably damaging Het
Izumo2 T G 7: 44,358,261 (GRCm39) L32R probably damaging Het
Mark2 A G 19: 7,261,855 (GRCm39) L359P probably damaging Het
Myo15b A G 11: 115,767,828 (GRCm39) K1376R probably benign Het
Ncam1 G A 9: 49,454,383 (GRCm39) R543* probably null Het
Pax2 A G 19: 44,823,848 (GRCm39) N347S possibly damaging Het
Ppargc1a A G 5: 51,631,498 (GRCm39) L377P probably benign Het
Pum3 A G 19: 27,403,357 (GRCm39) V48A probably benign Het
Rad1 T C 15: 10,493,337 (GRCm39) Y255H probably benign Het
Rpn2 A G 2: 157,144,328 (GRCm39) N330S probably benign Het
Rptn A G 3: 93,304,478 (GRCm39) S604G probably benign Het
Rragc A G 4: 123,814,904 (GRCm39) D200G probably benign Het
Slco4a1 T G 2: 180,114,921 (GRCm39) F615V probably damaging Het
Snx2 T C 18: 53,322,793 (GRCm39) S59P probably benign Het
Timp4 A T 6: 115,223,360 (GRCm39) probably null Het
Tln2 A G 9: 67,148,092 (GRCm39) probably benign Het
Txnrd1 C A 10: 82,731,808 (GRCm39) probably null Het
Other mutations in Rimbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16