Incidental Mutation 'R6239:Rims2'
ID 505139
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 044363-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R6239 (G1)
Quality Score 86.0076
Status Not validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 39061758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000154153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect unknown
Transcript: ENSMUST00000042917
AA Change: M1L
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: M1L

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 unknown
Transcript: ENSMUST00000082054
AA Change: M1L
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: M1L

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 unknown
Transcript: ENSMUST00000227243
AA Change: M1L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228460
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T A 1: 78,674,182 (GRCm39) S373T probably benign Het
Aox1 G A 1: 58,344,550 (GRCm39) probably null Het
Apol7c T C 15: 77,410,631 (GRCm39) E105G probably benign Het
B4galnt2 C T 11: 95,767,065 (GRCm39) A184T probably damaging Het
Castor1 A G 11: 4,168,967 (GRCm39) T45A possibly damaging Het
Casz1 A G 4: 149,022,734 (GRCm39) Q600R probably damaging Het
Cep152 A T 2: 125,421,332 (GRCm39) S1133T probably benign Het
Cep295 T C 9: 15,233,927 (GRCm39) I2290V possibly damaging Het
Clmn A T 12: 104,747,104 (GRCm39) H814Q probably benign Het
Creb3l1 A G 2: 91,825,748 (GRCm39) C124R probably damaging Het
Cspg4 A G 9: 56,795,466 (GRCm39) D1067G probably benign Het
Cyp1a1 T A 9: 57,609,361 (GRCm39) V354E probably benign Het
Cyp2t4 A T 7: 26,856,900 (GRCm39) Q280L possibly damaging Het
Dcaf6 A T 1: 165,178,839 (GRCm39) D563E possibly damaging Het
Dennd2a A G 6: 39,465,750 (GRCm39) F607L probably damaging Het
Dennd2d T A 3: 106,402,193 (GRCm39) F288I probably damaging Het
Dnah8 C T 17: 31,029,333 (GRCm39) R4101C probably damaging Het
Dnai4 A C 4: 102,923,640 (GRCm39) N396K probably benign Het
Dnase2a G T 8: 85,635,508 (GRCm39) probably null Het
Dnmbp C T 19: 43,836,624 (GRCm39) V1235I probably benign Het
Eml6 T C 11: 29,699,275 (GRCm39) D1826G probably damaging Het
Fam186b T C 15: 99,178,315 (GRCm39) Y337C probably benign Het
Flg2 A T 3: 93,108,579 (GRCm39) E202D probably benign Het
Fus C T 7: 127,580,606 (GRCm39) R228C possibly damaging Het
Gbf1 A G 19: 46,248,135 (GRCm39) E304G probably benign Het
Ggt1 A G 10: 75,421,515 (GRCm39) probably null Het
Gm19410 A T 8: 36,245,918 (GRCm39) D354V probably damaging Het
Hdac4 T C 1: 91,982,694 (GRCm39) D8G probably benign Het
Hhat A T 1: 192,277,395 (GRCm39) Y355N probably damaging Het
Ift140 T C 17: 25,247,946 (GRCm39) V268A probably benign Het
Il4i1 A G 7: 44,489,836 (GRCm39) R542G probably benign Het
Itga2b C T 11: 102,356,144 (GRCm39) V328I possibly damaging Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Lrit3 A T 3: 129,593,995 (GRCm39) I194N probably damaging Het
Mast4 A G 13: 102,872,717 (GRCm39) L2025P probably benign Het
Neb T C 2: 52,164,000 (GRCm39) N1986S probably benign Het
Osbpl7 G A 11: 96,943,650 (GRCm39) probably null Het
Pabpc2 T A 18: 39,906,891 (GRCm39) L52Q probably damaging Het
Pald1 T C 10: 61,156,910 (GRCm39) S847G possibly damaging Het
Pcdh12 T C 18: 38,415,454 (GRCm39) D557G probably damaging Het
Prmt2 A T 10: 76,058,425 (GRCm39) L128* probably null Het
Ptpn3 C A 4: 57,249,981 (GRCm39) A172S probably benign Het
Ptpro A T 6: 137,357,606 (GRCm39) T366S probably benign Het
Reg4 A G 3: 98,138,600 (GRCm39) K100R probably null Het
Sele A G 1: 163,878,377 (GRCm39) S239G probably damaging Het
Slc11a1 G A 1: 74,423,274 (GRCm39) R375Q possibly damaging Het
Slc13a3 T C 2: 165,248,617 (GRCm39) T554A unknown Het
Snw1 A T 12: 87,511,398 (GRCm39) N84K probably damaging Het
Stpg4 T C 17: 87,718,667 (GRCm39) Y171C probably benign Het
Styxl2 A T 1: 165,926,388 (GRCm39) S1075T probably damaging Het
Tmem222 T A 4: 132,995,606 (GRCm39) H147L probably damaging Het
Tmprss11f G T 5: 86,681,636 (GRCm39) R206S probably damaging Het
Trappc11 G A 8: 47,982,529 (GRCm39) T70M possibly damaging Het
Trpv4 G A 5: 114,782,887 (GRCm39) T25I probably benign Het
Ttr T C 18: 20,806,692 (GRCm39) V114A possibly damaging Het
Umod C T 7: 119,076,520 (GRCm39) C82Y probably damaging Het
Upk3a T A 15: 84,905,515 (GRCm39) M208K probably damaging Het
Vmn1r59 G A 7: 5,457,539 (GRCm39) P74S probably damaging Het
Vwa3a A T 7: 120,393,457 (GRCm39) R851S probably benign Het
Zfp236 G T 18: 82,675,229 (GRCm39) T421K possibly damaging Het
Zswim9 C A 7: 12,995,257 (GRCm39) G300* probably null 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
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
R9287:Rims2 UTSW 15 39,543,086 (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
Posted On 2018-02-28