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) question?
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

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: D781G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: D781G

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 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

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 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

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 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

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
  • 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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