Incidental Mutation 'R9287:Rims2'
ID 704055
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R9287 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39543086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1440 (A1440V)
Ref Sequence ENSEMBL: ENSMUSP00000048719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000226410] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042917
AA Change: A1440V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: A1440V

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:FYVE_2 30 154 9.5e-18 PFAM
low complexity region 315 335 N/A INTRINSIC
low complexity region 492 498 N/A INTRINSIC
low complexity region 511 521 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
PDZ 646 725 8.27e-16 SMART
low complexity region 740 748 N/A INTRINSIC
C2 790 897 4.08e-21 SMART
low complexity region 905 919 N/A INTRINSIC
low complexity region 1085 1101 N/A INTRINSIC
low complexity region 1116 1130 N/A INTRINSIC
low complexity region 1208 1238 N/A INTRINSIC
C2 1432 1535 3.78e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000082054
AA Change: A1398V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: A1398V

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:FYVE_2 76 194 2.2e-11 PFAM
low complexity region 355 375 N/A INTRINSIC
low complexity region 532 538 N/A INTRINSIC
low complexity region 551 561 N/A INTRINSIC
low complexity region 567 580 N/A INTRINSIC
PDZ 686 765 8.27e-16 SMART
low complexity region 780 788 N/A INTRINSIC
C2 830 937 4.08e-21 SMART
low complexity region 945 959 N/A INTRINSIC
low complexity region 1075 1086 N/A INTRINSIC
low complexity region 1166 1196 N/A INTRINSIC
C2 1390 1493 3.78e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226410
AA Change: A153V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227243
AA Change: A1418V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Meta Mutation Damage Score 0.1754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (109/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T A 2: 32,465,178 (GRCm39) probably benign Het
Aadacl2 C A 3: 59,932,573 (GRCm39) H363N probably damaging Het
Ace3 T G 11: 105,888,246 (GRCm39) S319A probably damaging Het
Amer3 C T 1: 34,627,900 (GRCm39) P713L possibly damaging Het
Aoah T C 13: 21,186,879 (GRCm39) L453P probably damaging Het
Asz1 A T 6: 18,051,290 (GRCm39) L463Q possibly damaging Het
Bpifb6 T A 2: 153,746,535 (GRCm39) V143D probably damaging Het
Cad T A 5: 31,230,000 (GRCm39) M1499K possibly damaging Het
Casp9 T A 4: 141,534,471 (GRCm39) C294S probably benign Het
Ccdc7b T A 8: 129,890,321 (GRCm39) S65T probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cfap54 T C 10: 92,805,565 (GRCm39) Y1515C possibly damaging Het
Chrm5 A C 2: 112,309,610 (GRCm39) F502C probably damaging Het
Cnst A T 1: 179,407,108 (GRCm39) T52S possibly damaging Het
Cntn6 T C 6: 104,809,471 (GRCm39) I502T possibly damaging Het
Col7a1 G A 9: 108,787,457 (GRCm39) V617M unknown Het
Ctsb A G 14: 63,370,875 (GRCm39) D29G probably benign Het
Cyp3a44 T A 5: 145,725,202 (GRCm39) Q333L possibly damaging Het
Dnajc27 T C 12: 4,146,256 (GRCm39) V95A possibly damaging Het
Eea1 T A 10: 95,831,445 (GRCm39) Y179N probably damaging Het
Erbb2 T C 11: 98,326,107 (GRCm39) M961T probably damaging Het
Fat4 G A 3: 38,945,781 (GRCm39) G1558D probably damaging Het
Foxh1 T C 15: 76,553,126 (GRCm39) E196G probably damaging Het
Gcc2 T A 10: 58,105,217 (GRCm39) L151* probably null Het
Gcdh C T 8: 85,616,313 (GRCm39) G294D probably damaging Het
Gcnt3 A T 9: 69,941,693 (GRCm39) F292I probably damaging Het
Glod4 T C 11: 76,128,510 (GRCm39) S131G probably benign Het
Gpc2 G A 5: 138,272,586 (GRCm39) L576F unknown Het
Gphn G A 12: 78,609,646 (GRCm39) S330N possibly damaging Het
Heatr5a C T 12: 51,967,260 (GRCm39) C872Y probably damaging Het
Hephl1 G A 9: 14,995,775 (GRCm39) S449L probably benign Het
Hrh2 G T 13: 54,368,358 (GRCm39) M111I probably benign Het
Igfn1 A G 1: 135,925,544 (GRCm39) V70A probably benign Het
Il2 G A 3: 37,179,988 (GRCm39) T23I probably damaging Het
Irak4 A G 15: 94,460,917 (GRCm39) T382A possibly damaging Het
Itih2 A G 2: 10,128,297 (GRCm39) S135P possibly damaging Het
Kansl3 C T 1: 36,388,497 (GRCm39) D457N probably damaging Het
Kcns3 A G 12: 11,141,601 (GRCm39) I366T probably damaging Het
Kif26a C A 12: 112,145,719 (GRCm39) Y1743* probably null Het
Lama4 A T 10: 38,981,960 (GRCm39) I1730F probably damaging Het
Lax1 T C 1: 133,607,931 (GRCm39) N270S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp6 A G 6: 134,483,259 (GRCm39) V482A probably benign Het
Luzp2 A G 7: 54,914,108 (GRCm39) probably benign Het
Mc5r C A 18: 68,472,200 (GRCm39) D186E probably damaging Het
Mcph1 A T 8: 18,657,293 (GRCm39) probably null Het
Mgam A G 6: 40,705,905 (GRCm39) probably benign Het
Mmrn1 A C 6: 60,952,939 (GRCm39) T407P probably damaging Het
Mrpl1 T C 5: 96,386,806 (GRCm39) V265A probably benign Het
Mrpl15 C T 1: 4,846,856 (GRCm39) G240D probably damaging Het
Msx1 A T 5: 37,978,795 (GRCm39) M240K probably damaging Het
Mtf1 T C 4: 124,724,934 (GRCm39) L337P probably damaging Het
Muc5ac T A 7: 141,361,626 (GRCm39) C1646S probably damaging Het
Mvb12a C A 8: 71,999,638 (GRCm39) T219N probably damaging Het
Myo16 G A 8: 10,526,114 (GRCm39) V885M unknown Het
N4bp2 T A 5: 65,960,855 (GRCm39) S509T probably benign Het
Nckap1 A G 2: 80,383,750 (GRCm39) V144A possibly damaging Het
Nkx2-6 G T 14: 69,412,404 (GRCm39) G191C possibly damaging Het
Nmnat2 T C 1: 152,962,138 (GRCm39) I126T probably damaging Het
Nrp2 C T 1: 62,835,014 (GRCm39) R863W probably damaging Het
Nup188 C T 2: 30,226,726 (GRCm39) R1168C probably damaging Het
Oas3 T A 5: 120,892,754 (GRCm39) D1091V probably damaging Het
Optn T A 2: 5,036,126 (GRCm39) Q452L probably damaging Het
Or8b47 C T 9: 38,435,082 (GRCm39) T18I probably damaging Het
Pcca G A 14: 122,854,178 (GRCm39) V157I probably benign Het
Pcdha9 A G 18: 37,132,281 (GRCm39) D450G probably benign Het
Pcnx1 T A 12: 82,042,323 (GRCm39) S38T probably benign Het
Phrf1 C G 7: 140,840,055 (GRCm39) D1083E probably benign Het
Plaat5 T A 19: 7,596,691 (GRCm39) Y159* probably null Het
Plcb4 G A 2: 135,829,817 (GRCm39) A947T probably benign Het
Ppp1r3g G A 13: 36,152,834 (GRCm39) D85N possibly damaging Het
Pramel34 G A 5: 93,785,969 (GRCm39) H104Y possibly damaging Het
Prom2 A C 2: 127,380,185 (GRCm39) V349G probably damaging Het
Prrc2c C T 1: 162,541,843 (GRCm39) S382N probably benign Het
Rai14 A T 15: 10,592,204 (GRCm39) N230K probably benign Het
Rexo5 A T 7: 119,402,025 (GRCm39) K142I probably damaging Het
Rgs22 T C 15: 36,098,409 (GRCm39) H484R probably damaging Het
Serpinb1a T C 13: 33,026,946 (GRCm39) E332G probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc26a7 C T 4: 14,516,165 (GRCm39) G555S possibly damaging Het
Slc4a2 A T 5: 24,639,123 (GRCm39) D386V probably damaging Het
Slc6a17 C T 3: 107,384,551 (GRCm39) V350M probably damaging Het
Smc2 A G 4: 52,449,361 (GRCm39) Y174C probably damaging Het
Smoc2 A G 17: 14,619,686 (GRCm39) Y355C probably damaging Het
Smpd1 T A 7: 105,204,442 (GRCm39) V107E probably benign Het
Snapc1 T C 12: 74,018,773 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,722,426 (GRCm39) D918G possibly damaging Het
Steap4 T G 5: 8,026,683 (GRCm39) F215L probably benign Het
Tbc1d1 T A 5: 64,435,364 (GRCm39) S501T probably damaging Het
Tec A G 5: 72,926,117 (GRCm39) Y312H probably damaging Het
Ticrr C A 7: 79,343,516 (GRCm39) T1127K possibly damaging Het
Tlk2 A G 11: 105,147,722 (GRCm39) D438G probably benign Het
Tln2 C A 9: 67,277,980 (GRCm39) V343L probably benign Het
Tmem156 T A 5: 65,231,148 (GRCm39) I241F probably damaging Het
Tmtc1 G T 6: 148,186,390 (GRCm39) N559K probably benign Het
Trbv4 A T 6: 41,036,696 (GRCm39) I74F probably benign Het
Trmt1l C T 1: 151,328,899 (GRCm39) P524S probably damaging Het
Trpa1 A T 1: 14,956,040 (GRCm39) C776* probably null Het
Ttc41 T A 10: 86,599,830 (GRCm39) S1043R probably benign Het
Ttn A G 2: 76,576,646 (GRCm39) L24749S probably damaging Het
Ube2o C T 11: 116,471,942 (GRCm39) G100R probably damaging Het
Unc5b T C 10: 60,609,532 (GRCm39) E588G possibly damaging Het
Usp43 G T 11: 67,770,922 (GRCm39) Q571K probably damaging Het
Vmn1r127 G A 7: 21,052,927 (GRCm39) P287L possibly damaging Het
Wasf3 T A 5: 146,397,857 (GRCm39) M208K possibly damaging Het
Xab2 A G 8: 3,663,000 (GRCm39) F527S possibly damaging Het
Zfp644 T G 5: 106,785,774 (GRCm39) N258H possibly damaging Het
Zfp947 A C 17: 22,364,594 (GRCm39) F360C probably damaging Het
Other mutations in Rims2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Rims2 APN 15 39,323,011 (GRCm39) missense probably benign 0.11
IGL00502:Rims2 APN 15 39,370,380 (GRCm39) missense probably damaging 1.00
IGL00556:Rims2 APN 15 39,320,070 (GRCm39) splice site probably null
IGL00811:Rims2 APN 15 39,155,544 (GRCm39) missense probably damaging 1.00
IGL00827:Rims2 APN 15 39,335,755 (GRCm39) missense probably damaging 0.99
IGL01642:Rims2 APN 15 39,321,192 (GRCm39) missense probably damaging 1.00
IGL02951:Rims2 APN 15 39,398,334 (GRCm39) missense probably damaging 1.00
IGL03009:Rims2 APN 15 39,430,393 (GRCm39) missense possibly damaging 0.85
IGL03080:Rims2 APN 15 39,399,299 (GRCm39) missense probably damaging 1.00
IGL03102:Rims2 APN 15 39,322,989 (GRCm39) missense possibly damaging 0.95
IGL03252:Rims2 APN 15 39,315,748 (GRCm39) missense probably benign
IGL03365:Rims2 APN 15 39,339,937 (GRCm39) missense probably damaging 1.00
IGL03393:Rims2 APN 15 39,326,009 (GRCm39) splice site probably null
IGL03409:Rims2 APN 15 39,320,129 (GRCm39) missense probably damaging 1.00
rhyme UTSW 15 39,315,724 (GRCm39) missense probably damaging 1.00
PIT4486001:Rims2 UTSW 15 39,339,916 (GRCm39) missense possibly damaging 0.67
R0009:Rims2 UTSW 15 39,398,362 (GRCm39) missense probably damaging 0.99
R0009:Rims2 UTSW 15 39,398,362 (GRCm39) missense probably damaging 0.99
R0078:Rims2 UTSW 15 39,398,251 (GRCm39) missense probably benign 0.42
R0367:Rims2 UTSW 15 39,326,011 (GRCm39) splice site probably null
R0401:Rims2 UTSW 15 39,373,028 (GRCm39) splice site probably benign
R0531:Rims2 UTSW 15 39,430,426 (GRCm39) missense probably damaging 1.00
R0791:Rims2 UTSW 15 39,543,021 (GRCm39) splice site probably benign
R0838:Rims2 UTSW 15 39,544,421 (GRCm39) missense probably benign 0.02
R1201:Rims2 UTSW 15 39,479,720 (GRCm39) missense possibly damaging 0.91
R1318:Rims2 UTSW 15 39,381,222 (GRCm39) missense probably damaging 0.99
R1457:Rims2 UTSW 15 39,374,710 (GRCm39) missense possibly damaging 0.63
R1619:Rims2 UTSW 15 39,370,382 (GRCm39) missense probably damaging 1.00
R1672:Rims2 UTSW 15 39,155,584 (GRCm39) missense probably benign 0.09
R1743:Rims2 UTSW 15 39,543,046 (GRCm39) missense probably benign 0.10
R1766:Rims2 UTSW 15 39,325,976 (GRCm39) missense probably damaging 0.99
R1779:Rims2 UTSW 15 39,545,098 (GRCm39) missense probably damaging 1.00
R1804:Rims2 UTSW 15 39,300,439 (GRCm39) nonsense probably null
R1985:Rims2 UTSW 15 39,208,710 (GRCm39) missense probably damaging 0.99
R1986:Rims2 UTSW 15 39,208,710 (GRCm39) missense probably damaging 0.99
R2113:Rims2 UTSW 15 39,374,722 (GRCm39) missense probably benign 0.17
R2260:Rims2 UTSW 15 39,341,962 (GRCm39) nonsense probably null
R2510:Rims2 UTSW 15 39,449,048 (GRCm39) missense probably damaging 1.00
R3693:Rims2 UTSW 15 39,341,971 (GRCm39) missense probably benign 0.01
R3937:Rims2 UTSW 15 39,301,241 (GRCm39) missense probably damaging 1.00
R4425:Rims2 UTSW 15 39,301,320 (GRCm39) critical splice donor site probably null
R4453:Rims2 UTSW 15 39,155,603 (GRCm39) missense probably damaging 1.00
R4474:Rims2 UTSW 15 39,325,956 (GRCm39) missense probably damaging 1.00
R4518:Rims2 UTSW 15 39,300,922 (GRCm39) missense probably damaging 1.00
R4526:Rims2 UTSW 15 39,301,113 (GRCm39) missense probably damaging 1.00
R4833:Rims2 UTSW 15 39,399,310 (GRCm39) missense probably damaging 0.98
R4936:Rims2 UTSW 15 39,301,124 (GRCm39) missense probably damaging 1.00
R4993:Rims2 UTSW 15 39,317,841 (GRCm39) missense possibly damaging 0.90
R5001:Rims2 UTSW 15 39,315,824 (GRCm39) missense probably benign 0.03
R5054:Rims2 UTSW 15 39,381,265 (GRCm39) splice site probably null
R5072:Rims2 UTSW 15 39,325,986 (GRCm39) missense probably benign 0.01
R5171:Rims2 UTSW 15 39,300,499 (GRCm39) missense probably damaging 1.00
R5429:Rims2 UTSW 15 39,208,751 (GRCm39) missense probably damaging 1.00
R5623:Rims2 UTSW 15 39,342,011 (GRCm39) missense probably damaging 1.00
R5624:Rims2 UTSW 15 39,208,809 (GRCm39) missense possibly damaging 0.46
R5685:Rims2 UTSW 15 39,300,602 (GRCm39) missense possibly damaging 0.67
R5784:Rims2 UTSW 15 39,399,383 (GRCm39) splice site probably null
R5790:Rims2 UTSW 15 39,544,441 (GRCm39) missense probably damaging 1.00
R5822:Rims2 UTSW 15 39,339,886 (GRCm39) missense probably damaging 1.00
R5963:Rims2 UTSW 15 39,300,578 (GRCm39) missense probably damaging 1.00
R5988:Rims2 UTSW 15 39,155,577 (GRCm39) missense probably damaging 1.00
R6057:Rims2 UTSW 15 39,538,416 (GRCm39) missense probably damaging 1.00
R6239:Rims2 UTSW 15 39,061,758 (GRCm39) start codon destroyed unknown
R6407:Rims2 UTSW 15 39,315,724 (GRCm39) missense probably damaging 1.00
R6418:Rims2 UTSW 15 39,373,092 (GRCm39) missense probably damaging 1.00
R6495:Rims2 UTSW 15 39,381,208 (GRCm39) missense probably benign 0.01
R6502:Rims2 UTSW 15 39,398,251 (GRCm39) missense probably benign 0.42
R6753:Rims2 UTSW 15 39,430,369 (GRCm39) missense possibly damaging 0.74
R6855:Rims2 UTSW 15 39,208,911 (GRCm39) missense probably benign 0.06
R6948:Rims2 UTSW 15 39,374,737 (GRCm39) missense probably benign
R7058:Rims2 UTSW 15 39,449,044 (GRCm39) missense probably damaging 1.00
R7167:Rims2 UTSW 15 39,300,473 (GRCm39) missense probably benign
R7217:Rims2 UTSW 15 39,339,885 (GRCm39) missense probably damaging 0.99
R7223:Rims2 UTSW 15 39,300,428 (GRCm39) missense probably benign 0.30
R7289:Rims2 UTSW 15 39,301,114 (GRCm39) missense probably benign 0.00
R7459:Rims2 UTSW 15 39,381,235 (GRCm39) missense probably benign
R7663:Rims2 UTSW 15 39,370,422 (GRCm39) missense probably damaging 1.00
R7792:Rims2 UTSW 15 39,061,923 (GRCm39) missense possibly damaging 0.69
R7836:Rims2 UTSW 15 39,544,475 (GRCm39) missense probably damaging 1.00
R8082:Rims2 UTSW 15 39,339,919 (GRCm39) missense probably benign 0.34
R8489:Rims2 UTSW 15 39,479,846 (GRCm39) missense probably damaging 1.00
R8730:Rims2 UTSW 15 39,381,239 (GRCm39) missense probably benign 0.01
R8830:Rims2 UTSW 15 39,300,758 (GRCm39) missense possibly damaging 0.64
R8857:Rims2 UTSW 15 39,543,044 (GRCm39) missense possibly damaging 0.95
R8893:Rims2 UTSW 15 39,398,350 (GRCm39) missense probably benign 0.02
R9010:Rims2 UTSW 15 39,315,786 (GRCm39) nonsense probably null
R9030:Rims2 UTSW 15 39,339,873 (GRCm39) missense probably damaging 1.00
R9395:Rims2 UTSW 15 39,155,664 (GRCm39) missense probably damaging 1.00
R9451:Rims2 UTSW 15 39,300,724 (GRCm39) missense probably damaging 1.00
R9506:Rims2 UTSW 15 39,335,832 (GRCm39) missense probably damaging 0.97
X0034:Rims2 UTSW 15 39,300,930 (GRCm39) missense probably benign
Z1177:Rims2 UTSW 15 39,544,510 (GRCm39) missense probably damaging 1.00
Z1177:Rims2 UTSW 15 39,342,086 (GRCm39) frame shift probably null
Z1177:Rims2 UTSW 15 39,301,165 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AAGTCACATTCCCTCAATTTCATGC -3'
(R):5'- ACAGCTCCCTCAGAATGCTG -3'

Sequencing Primer
(F):5'- TGCTACTTTTAACAAGATTACCAGC -3'
(R):5'- TCCCTCAGAATGCTGGCAGAC -3'
Posted On 2022-03-25