Incidental Mutation 'R1766:Rims2'
ID 194406
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms 2810036I15Rik, Syt3-rs, RIM2
MMRRC Submission 039798-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # R1766 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 39198261-39684372 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39462580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 769 (D769E)
Ref Sequence ENSEMBL: ENSMUSP00000154153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042917
AA Change: D769E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: D769E

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 possibly damaging
Transcript: ENSMUST00000082054
AA Change: D809E

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: D809E

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: ENSMUST00000227243
AA Change: D769E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: D489E
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933403O08Rik T C X: 112,241,085 (GRCm38) Y22H probably benign Het
Afg1l T C 10: 42,454,495 (GRCm38) T59A probably benign Het
Ankrd17 T A 5: 90,264,797 (GRCm38) M1223L possibly damaging Het
Ankrd24 G A 10: 81,638,638 (GRCm38) S68N probably benign Het
Arhgap31 A G 16: 38,625,590 (GRCm38) I131T probably damaging Het
Arhgef10 A T 8: 14,979,836 (GRCm38) I874F probably damaging Het
Arl5b T C 2: 15,069,837 (GRCm38) V43A probably benign Het
BC051665 G A 13: 60,785,040 (GRCm38) H36Y probably benign Het
Cdh9 A G 15: 16,778,306 (GRCm38) D69G probably damaging Het
Chd6 G A 2: 160,966,639 (GRCm38) L1552F probably damaging Het
Chrd A G 16: 20,737,441 (GRCm38) H584R probably damaging Het
Dnhd1 G A 7: 105,693,972 (GRCm38) V1508I possibly damaging Het
Dpy19l4 C T 4: 11,303,360 (GRCm38) G187D probably damaging Het
Dync2h1 T C 9: 7,015,526 (GRCm38) probably null Het
Ehbp1l1 A G 19: 5,716,406 (GRCm38) V1303A probably damaging Het
Eif4e1b G A 13: 54,786,891 (GRCm38) E182K probably damaging Het
Fam170b A T 14: 32,835,886 (GRCm38) Q226L possibly damaging Het
Fam193a C T 5: 34,462,131 (GRCm38) P760L probably damaging Het
Gabra5 A T 7: 57,508,048 (GRCm38) L6H probably benign Het
Gabrq G A X: 72,833,383 (GRCm38) R161H probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 (GRCm38) probably null Het
Gm7334 T A 17: 50,698,978 (GRCm38) D97E probably damaging Het
Gpsm1 G A 2: 26,325,383 (GRCm38) A286T probably damaging Het
Gsta4 C A 9: 78,204,329 (GRCm38) Y79* probably null Het
Hcn1 T A 13: 117,656,734 (GRCm38) V174D probably benign Het
Hic1 G T 11: 75,165,794 (GRCm38) C756* probably null Het
Hivep3 C T 4: 120,096,671 (GRCm38) T728I probably benign Het
Ice1 T C 13: 70,604,442 (GRCm38) E1175G possibly damaging Het
Igsf3 T A 3: 101,431,282 (GRCm38) L304Q probably damaging Het
Kpna6 T C 4: 129,657,442 (GRCm38) D90G probably benign Het
Krt73 C T 15: 101,793,928 (GRCm38) G500D probably damaging Het
Lama3 A G 18: 12,402,062 (GRCm38) K156E probably damaging Het
Mdm2 T C 10: 117,696,022 (GRCm38) K94E probably damaging Het
Mitf T C 6: 97,941,099 (GRCm38) S26P probably damaging Het
Myh4 C A 11: 67,256,295 (GRCm38) Q1589K possibly damaging Het
Nlrp4c T A 7: 6,073,114 (GRCm38) V671E probably benign Het
Nop9 C T 14: 55,752,134 (GRCm38) A407V possibly damaging Het
Nrap T A 19: 56,335,042 (GRCm38) H1366L probably damaging Het
Ntrk1 A T 3: 87,778,518 (GRCm38) C766S probably damaging Het
Olfr625-ps1 A G 7: 103,682,861 (GRCm38) N38D possibly damaging Het
Olfr735 T C 14: 50,346,220 (GRCm38) Y43C probably damaging Het
Olfr768 T C 10: 129,093,747 (GRCm38) I76V probably benign Het
Olfr845 A G 9: 19,338,858 (GRCm38) T133A probably benign Het
Oog3 C T 4: 144,159,122 (GRCm38) G302D possibly damaging Het
Pdzph1 C T 17: 58,973,752 (GRCm38) V512I probably benign Het
Phf2 A C 13: 48,819,557 (GRCm38) S408A unknown Het
Pigk T G 3: 152,740,156 (GRCm38) L135V probably damaging Het
Ppp2ca C A 11: 52,121,946 (GRCm38) T301N probably benign Het
Ppp4r3a A G 12: 101,058,482 (GRCm38) S253P probably damaging Het
Ptgfrn A T 3: 101,050,122 (GRCm38) I712N probably benign Het
Rapgef2 A T 3: 79,092,703 (GRCm38) D579E probably damaging Het
Rptor T A 11: 119,725,061 (GRCm38) C134S probably damaging Het
S100a1 A G 3: 90,511,292 (GRCm38) F72L probably damaging Het
Scube1 T A 15: 83,721,945 (GRCm38) D42V probably damaging Het
Sh3glb1 T C 3: 144,712,685 (GRCm38) D39G probably damaging Het
Sh3pxd2a T C 19: 47,273,250 (GRCm38) T397A probably benign Het
Siglece G A 7: 43,651,532 (GRCm38) T453M probably damaging Het
Slc26a1 G A 5: 108,671,792 (GRCm38) R514W probably damaging Het
Slc4a8 T C 15: 100,787,212 (GRCm38) V156A probably benign Het
Smchd1 A T 17: 71,391,379 (GRCm38) V1134E probably damaging Het
Sorbs2 A G 8: 45,770,576 (GRCm38) Y222C probably damaging Het
Sorcs3 G T 19: 48,603,875 (GRCm38) W326C possibly damaging Het
Taf2 A G 15: 55,071,397 (GRCm38) V45A probably benign Het
Tiparp A T 3: 65,532,049 (GRCm38) H80L probably damaging Het
Tmem71 T A 15: 66,541,699 (GRCm38) T175S probably benign Het
Tmem87b T A 2: 128,839,170 (GRCm38) V338D probably damaging Het
Trdn A G 10: 33,364,008 (GRCm38) K445R probably damaging Het
Trim14 A G 4: 46,522,039 (GRCm38) F213L probably benign Het
Tubgcp5 T A 7: 55,815,020 (GRCm38) S550T probably benign Het
Tufm A G 7: 126,490,472 (GRCm38) D446G probably benign Het
Vipr1 A T 9: 121,661,419 (GRCm38) Y177F possibly damaging Het
Vmn2r116 A C 17: 23,401,766 (GRCm38) I825L probably damaging Het
Vmn2r12 G T 5: 109,092,044 (GRCm38) Q218K probably damaging Het
Vwa7 G T 17: 35,023,943 (GRCm38) probably null Het
Ywhae T C 11: 75,755,665 (GRCm38) V119A probably damaging Het
Zfand5 A G 19: 21,280,524 (GRCm38) R199G probably damaging Het
Zfp810 T C 9: 22,278,532 (GRCm38) Y360C possibly damaging Het
Zrsr1 A G 11: 22,973,637 (GRCm38) D137G probably benign Het
Other mutations in Rims2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Rims2 APN 15 39,459,615 (GRCm38) missense probably benign 0.11
IGL00502:Rims2 APN 15 39,506,984 (GRCm38) missense probably damaging 1.00
IGL00556:Rims2 APN 15 39,456,674 (GRCm38) splice site probably null
IGL00811:Rims2 APN 15 39,292,149 (GRCm38) missense probably damaging 1.00
IGL00827:Rims2 APN 15 39,472,359 (GRCm38) missense probably damaging 0.99
IGL01642:Rims2 APN 15 39,457,796 (GRCm38) missense probably damaging 1.00
IGL02951:Rims2 APN 15 39,534,938 (GRCm38) missense probably damaging 1.00
IGL03009:Rims2 APN 15 39,566,997 (GRCm38) missense possibly damaging 0.85
IGL03080:Rims2 APN 15 39,535,903 (GRCm38) missense probably damaging 1.00
IGL03102:Rims2 APN 15 39,459,593 (GRCm38) missense possibly damaging 0.95
IGL03252:Rims2 APN 15 39,452,352 (GRCm38) missense probably benign
IGL03365:Rims2 APN 15 39,476,541 (GRCm38) missense probably damaging 1.00
IGL03393:Rims2 APN 15 39,462,613 (GRCm38) splice site probably null
IGL03409:Rims2 APN 15 39,456,733 (GRCm38) missense probably damaging 1.00
rhyme UTSW 15 39,452,328 (GRCm38) missense probably damaging 1.00
PIT4486001:Rims2 UTSW 15 39,476,520 (GRCm38) missense possibly damaging 0.67
R0009:Rims2 UTSW 15 39,534,966 (GRCm38) missense probably damaging 0.99
R0009:Rims2 UTSW 15 39,534,966 (GRCm38) missense probably damaging 0.99
R0078:Rims2 UTSW 15 39,534,855 (GRCm38) missense probably benign 0.42
R0367:Rims2 UTSW 15 39,462,615 (GRCm38) splice site probably null
R0401:Rims2 UTSW 15 39,509,632 (GRCm38) splice site probably benign
R0531:Rims2 UTSW 15 39,567,030 (GRCm38) missense probably damaging 1.00
R0791:Rims2 UTSW 15 39,679,625 (GRCm38) splice site probably benign
R0838:Rims2 UTSW 15 39,681,025 (GRCm38) missense probably benign 0.02
R1201:Rims2 UTSW 15 39,616,324 (GRCm38) missense possibly damaging 0.91
R1318:Rims2 UTSW 15 39,517,826 (GRCm38) missense probably damaging 0.99
R1457:Rims2 UTSW 15 39,511,314 (GRCm38) missense possibly damaging 0.63
R1619:Rims2 UTSW 15 39,506,986 (GRCm38) missense probably damaging 1.00
R1672:Rims2 UTSW 15 39,292,189 (GRCm38) missense probably benign 0.09
R1743:Rims2 UTSW 15 39,679,650 (GRCm38) missense probably benign 0.10
R1779:Rims2 UTSW 15 39,681,702 (GRCm38) missense probably damaging 1.00
R1804:Rims2 UTSW 15 39,437,043 (GRCm38) nonsense probably null
R1985:Rims2 UTSW 15 39,345,314 (GRCm38) missense probably damaging 0.99
R1986:Rims2 UTSW 15 39,345,314 (GRCm38) missense probably damaging 0.99
R2113:Rims2 UTSW 15 39,511,326 (GRCm38) missense probably benign 0.17
R2260:Rims2 UTSW 15 39,478,566 (GRCm38) nonsense probably null
R2510:Rims2 UTSW 15 39,585,652 (GRCm38) missense probably damaging 1.00
R3693:Rims2 UTSW 15 39,478,575 (GRCm38) missense probably benign 0.01
R3937:Rims2 UTSW 15 39,437,845 (GRCm38) missense probably damaging 1.00
R4425:Rims2 UTSW 15 39,437,924 (GRCm38) critical splice donor site probably null
R4453:Rims2 UTSW 15 39,292,208 (GRCm38) missense probably damaging 1.00
R4474:Rims2 UTSW 15 39,462,560 (GRCm38) missense probably damaging 1.00
R4518:Rims2 UTSW 15 39,437,526 (GRCm38) missense probably damaging 1.00
R4526:Rims2 UTSW 15 39,437,717 (GRCm38) missense probably damaging 1.00
R4833:Rims2 UTSW 15 39,535,914 (GRCm38) missense probably damaging 0.98
R4936:Rims2 UTSW 15 39,437,728 (GRCm38) missense probably damaging 1.00
R4993:Rims2 UTSW 15 39,454,445 (GRCm38) missense possibly damaging 0.90
R5001:Rims2 UTSW 15 39,452,428 (GRCm38) missense probably benign 0.03
R5054:Rims2 UTSW 15 39,517,869 (GRCm38) splice site probably null
R5072:Rims2 UTSW 15 39,462,590 (GRCm38) missense probably benign 0.01
R5171:Rims2 UTSW 15 39,437,103 (GRCm38) missense probably damaging 1.00
R5429:Rims2 UTSW 15 39,345,355 (GRCm38) missense probably damaging 1.00
R5623:Rims2 UTSW 15 39,478,615 (GRCm38) missense probably damaging 1.00
R5624:Rims2 UTSW 15 39,345,413 (GRCm38) missense possibly damaging 0.46
R5685:Rims2 UTSW 15 39,437,206 (GRCm38) missense possibly damaging 0.67
R5784:Rims2 UTSW 15 39,535,987 (GRCm38) splice site probably null
R5790:Rims2 UTSW 15 39,681,045 (GRCm38) missense probably damaging 1.00
R5822:Rims2 UTSW 15 39,476,490 (GRCm38) missense probably damaging 1.00
R5963:Rims2 UTSW 15 39,437,182 (GRCm38) missense probably damaging 1.00
R5988:Rims2 UTSW 15 39,292,182 (GRCm38) missense probably damaging 1.00
R6057:Rims2 UTSW 15 39,675,020 (GRCm38) missense probably damaging 1.00
R6239:Rims2 UTSW 15 39,198,363 (GRCm38) start codon destroyed unknown
R6407:Rims2 UTSW 15 39,452,328 (GRCm38) missense probably damaging 1.00
R6418:Rims2 UTSW 15 39,509,696 (GRCm38) missense probably damaging 1.00
R6495:Rims2 UTSW 15 39,517,812 (GRCm38) missense probably benign 0.01
R6502:Rims2 UTSW 15 39,534,855 (GRCm38) missense probably benign 0.42
R6753:Rims2 UTSW 15 39,566,973 (GRCm38) missense possibly damaging 0.74
R6855:Rims2 UTSW 15 39,345,515 (GRCm38) missense probably benign 0.06
R6948:Rims2 UTSW 15 39,511,341 (GRCm38) missense probably benign
R7058:Rims2 UTSW 15 39,585,648 (GRCm38) missense probably damaging 1.00
R7167:Rims2 UTSW 15 39,437,077 (GRCm38) missense probably benign
R7217:Rims2 UTSW 15 39,476,489 (GRCm38) missense probably damaging 0.99
R7223:Rims2 UTSW 15 39,437,032 (GRCm38) missense probably benign 0.30
R7289:Rims2 UTSW 15 39,437,718 (GRCm38) missense probably benign 0.00
R7459:Rims2 UTSW 15 39,517,839 (GRCm38) missense probably benign
R7663:Rims2 UTSW 15 39,507,026 (GRCm38) missense probably damaging 1.00
R7792:Rims2 UTSW 15 39,198,528 (GRCm38) missense possibly damaging 0.69
R7836:Rims2 UTSW 15 39,681,079 (GRCm38) missense probably damaging 1.00
R8082:Rims2 UTSW 15 39,476,523 (GRCm38) missense probably benign 0.34
R8489:Rims2 UTSW 15 39,616,450 (GRCm38) missense probably damaging 1.00
R8730:Rims2 UTSW 15 39,517,843 (GRCm38) missense probably benign 0.01
R8830:Rims2 UTSW 15 39,437,362 (GRCm38) missense possibly damaging 0.64
R8857:Rims2 UTSW 15 39,679,648 (GRCm38) missense possibly damaging 0.95
R8893:Rims2 UTSW 15 39,534,954 (GRCm38) missense probably benign 0.02
R9010:Rims2 UTSW 15 39,452,390 (GRCm38) nonsense probably null
R9030:Rims2 UTSW 15 39,476,477 (GRCm38) missense probably damaging 1.00
R9287:Rims2 UTSW 15 39,679,690 (GRCm38) missense probably damaging 1.00
R9395:Rims2 UTSW 15 39,292,269 (GRCm38) missense probably damaging 1.00
R9451:Rims2 UTSW 15 39,437,328 (GRCm38) missense probably damaging 1.00
R9506:Rims2 UTSW 15 39,472,436 (GRCm38) missense probably damaging 0.97
X0034:Rims2 UTSW 15 39,437,534 (GRCm38) missense probably benign
Z1177:Rims2 UTSW 15 39,681,114 (GRCm38) missense probably damaging 1.00
Z1177:Rims2 UTSW 15 39,478,690 (GRCm38) frame shift probably null
Z1177:Rims2 UTSW 15 39,437,769 (GRCm38) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- GCGTTTAAAGAAGCCTGTTGAGCATTC -3'
(R):5'- TCACCCCAACTTCTGAAAGTGTGATG -3'

Sequencing Primer
(F):5'- CCTGTTGAGCATTCTAAAATAGGAAG -3'
(R):5'- GATTAAAAGAGGGGTTACATATCGTC -3'
Posted On 2014-05-23