Incidental Mutation 'R5554:Rimbp2'
ID 435281
Institutional Source Beutler Lab
Gene Symbol Rimbp2
Ensembl Gene ENSMUSG00000029420
Gene Name RIMS binding protein 2
Synonyms A930033C01Rik
MMRRC Submission 043111-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5554 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 128834855-129030550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128857406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 815 (D815G)
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 possibly damaging
Transcript: ENSMUST00000111346
AA Change: D822G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106978
Gene: ENSMUSG00000029420
AA Change: D822G

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
AA Change: D747G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: D747G

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 noncoding transcript
Transcript: ENSMUST00000197674
Predicted Effect possibly damaging
Transcript: ENSMUST00000198941
AA Change: D822G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: D822G

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 noncoding transcript
Transcript: ENSMUST00000199333
Predicted Effect probably damaging
Transcript: ENSMUST00000199537
AA Change: D815G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: D815G

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 possibly damaging
Transcript: ENSMUST00000200470
AA Change: D815G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: D815G

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adamtsl1 A G 4: 86,195,182 (GRCm39) Q533R possibly damaging Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Grwd1 C T 7: 45,480,064 (GRCm39) V48I probably damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Maco1 T C 4: 134,555,445 (GRCm39) I343V probably benign Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
N4bp2 T C 5: 65,965,457 (GRCm39) Y1169H probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Vwa1 G T 4: 155,857,695 (GRCm39) D34E probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K probably benign 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
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
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'- CTCTCAGGCATTTTACATGGGG -3'
(R):5'- ATATGGAAAGCAGGGCCCTG -3'

Sequencing Primer
(F):5'- CATTTTACATGGGGGCCAAAGTCC -3'
(R):5'- AGGTCACTCAGCTAACCTTTCAG -3'
Posted On 2016-10-24