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) question?
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

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: T741S

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143725
Gene: ENSMUSG00000029420
AA Change: T741S

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 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

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: ENSMUST00000199537
AA Change: T809S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143276
Gene: ENSMUSG00000029420
AA Change: T809S

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 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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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