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) question?
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

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 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

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: H826Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142455
Gene: ENSMUSG00000029420
AA Change: H826Y

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: H819Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: H819Y

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: H819Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143099
Gene: ENSMUSG00000029420
AA Change: H819Y

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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