Incidental Mutation 'R0009:Rims2'
ID 40496
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms 2810036I15Rik, Syt3-rs, RIM2
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # R0009 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 39198261-39684372 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39534966 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1087 (M1087K)
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: M1109K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: M1109K

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 benign
Transcript: ENSMUST00000082054
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386

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: M1087K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: M807K
Meta Mutation Damage Score 0.2959 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 (GRCm38) probably benign Het
Abcg4 T G 9: 44,277,649 (GRCm38) probably benign Het
Afm C A 5: 90,545,384 (GRCm38) probably benign Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aplnr T A 2: 85,137,276 (GRCm38) probably null Het
Arih2 T A 9: 108,611,727 (GRCm38) H264L probably damaging Het
Atp1a1 A T 3: 101,579,835 (GRCm38) I886N possibly damaging Het
Bmf A T 2: 118,549,622 (GRCm38) V14E probably damaging Het
Ccdc116 T C 16: 17,144,039 (GRCm38) E15G probably damaging Het
Ccdc175 T C 12: 72,135,965 (GRCm38) N427D possibly damaging Het
Cfap53 A G 18: 74,299,176 (GRCm38) H45R probably benign Het
Chd3 A G 11: 69,349,906 (GRCm38) L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 (GRCm38) Q457* probably null Het
Coro1a A T 7: 126,701,413 (GRCm38) probably benign Het
Cracr2b T A 7: 141,463,759 (GRCm38) L91Q probably damaging Het
Ctdspl T C 9: 119,020,046 (GRCm38) probably null Het
Dip2b T A 15: 100,169,312 (GRCm38) L565Q probably damaging Het
Dip2c T A 13: 9,621,903 (GRCm38) C1004S probably damaging Het
Dnah11 A T 12: 118,045,522 (GRCm38) I2135N possibly damaging Het
Dnah14 A G 1: 181,769,407 (GRCm38) probably benign Het
Dnase1 T C 16: 4,038,946 (GRCm38) V147A probably damaging Het
Dusp8 T C 7: 142,082,054 (GRCm38) probably benign Het
Fer1l6 T C 15: 58,662,787 (GRCm38) Y1828H probably damaging Het
Flvcr1 A G 1: 191,008,191 (GRCm38) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm38) V311A probably benign Het
Glud1 G A 14: 34,334,268 (GRCm38) G300S probably benign Het
Gm4847 C T 1: 166,630,486 (GRCm38) V433I probably benign Het
Gstm3 T G 3: 107,967,840 (GRCm38) Y62S probably damaging Het
Gtse1 C T 15: 85,862,435 (GRCm38) P151S probably benign Het
Herc2 T C 7: 56,207,812 (GRCm38) S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 (GRCm38) I19K probably benign Het
Htr7 C A 19: 36,041,540 (GRCm38) probably benign Het
Il1a C T 2: 129,309,074 (GRCm38) D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 (GRCm38) N39I probably damaging Het
Kcnn4 T C 7: 24,379,255 (GRCm38) C267R possibly damaging Het
Larp1 A G 11: 58,055,473 (GRCm38) K879R possibly damaging Het
Lcn5 T A 2: 25,661,405 (GRCm38) probably benign Het
Lep T A 6: 29,068,972 (GRCm38) C7* probably null Het
Magi2 A T 5: 20,611,055 (GRCm38) Y747F probably benign Het
Mast4 T C 13: 102,742,058 (GRCm38) T1223A probably damaging Het
Mcc C T 18: 44,445,933 (GRCm38) E803K probably damaging Het
Mtmr4 T C 11: 87,611,508 (GRCm38) I796T probably benign Het
Myef2 A T 2: 125,108,978 (GRCm38) D312E probably benign Het
Myl3 A C 9: 110,767,929 (GRCm38) D119A probably damaging Het
Myo19 T A 11: 84,888,169 (GRCm38) probably null Het
Naa15 T G 3: 51,470,219 (GRCm38) H763Q probably damaging Het
Pde5a C T 3: 122,824,902 (GRCm38) probably benign Het
Plpp2 C T 10: 79,527,244 (GRCm38) R184H probably benign Het
Rab19 T G 6: 39,389,687 (GRCm38) L179V probably damaging Het
Riox2 C A 16: 59,489,367 (GRCm38) D361E probably benign Het
Sh3rf1 T A 8: 61,226,293 (GRCm38) V123E probably damaging Het
Slc35e1 A T 8: 72,484,709 (GRCm38) N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 (GRCm38) E604V probably benign Het
Srp72 T C 5: 76,987,885 (GRCm38) S221P probably damaging Het
Tbx19 A T 1: 165,160,520 (GRCm38) S15T possibly damaging Het
Tcea2 A G 2: 181,685,817 (GRCm38) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm38) D230E probably damaging Het
Tm4sf5 C T 11: 70,510,712 (GRCm38) A179V probably damaging Het
Tnr G T 1: 159,852,416 (GRCm38) G320V probably damaging Het
Trappc11 A T 8: 47,503,320 (GRCm38) C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 (GRCm38) Y885N probably damaging Het
Unc5a T A 13: 55,002,879 (GRCm38) C505S probably damaging Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Xpo5 T C 17: 46,204,786 (GRCm38) probably benign Het
Zfp637 C A 6: 117,845,668 (GRCm38) H252Q probably damaging Het
Zfp646 T A 7: 127,880,731 (GRCm38) D693E probably damaging 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
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
R1766:Rims2 UTSW 15 39,462,580 (GRCm38) missense probably damaging 0.99
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'- GTTCTCCTTGTGGAAAGCAGGTAGC -3'
(R):5'- AGTCAGGACAGGATTGACTTAGGACTC -3'

Sequencing Primer
(F):5'- GCATCGCTTATAACTGAGCAAG -3'
(R):5'- ACTTAGGACTCCTGGTTAATGAG -3'
Posted On 2013-05-23