Incidental Mutation 'R1457:Rims2'
ID 158607
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R1457 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39374710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1064 (T1064I)
Ref Sequence ENSEMBL: ENSMUSP00000080711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000042917
AA Change: T1024I

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: T1024I

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: T1064I

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: T1064I

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 possibly damaging
Transcript: ENSMUST00000227243
AA Change: T1024I

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: T744I
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,888,683 (GRCm39) I1210F probably benign Het
Ankrd17 T C 5: 90,433,705 (GRCm39) H688R possibly damaging Het
Arhgap24 T A 5: 102,811,972 (GRCm39) N66K probably damaging Het
Atp1a1 C T 3: 101,497,782 (GRCm39) G335D probably damaging Het
Cacna1g C T 11: 94,350,381 (GRCm39) R488H possibly damaging Het
Cacna1h A T 17: 25,616,594 (GRCm39) V149E probably damaging Het
Cd22 G T 7: 30,572,595 (GRCm39) P338Q probably benign Het
Cntln G T 4: 85,015,076 (GRCm39) M1122I probably benign Het
Cntrl A G 2: 35,012,768 (GRCm39) N302S probably benign Het
Cog8 T C 8: 107,779,528 (GRCm39) R250G probably damaging Het
Cracdl A T 1: 37,665,093 (GRCm39) Y268* probably null Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Cyp2b23 G A 7: 26,372,574 (GRCm39) P347L probably damaging Het
Dnah5 T C 15: 28,403,688 (GRCm39) probably null Het
Eml6 C T 11: 29,974,459 (GRCm39) V40I probably damaging Het
Epb42 C T 2: 120,860,448 (GRCm39) probably null Het
Fcrla A G 1: 170,748,573 (GRCm39) L190P probably damaging Het
Galnt18 A T 7: 111,378,635 (GRCm39) Y40* probably null Het
Gdf7 A T 12: 8,348,073 (GRCm39) M416K probably damaging Het
Gm11232 T A 4: 71,675,156 (GRCm39) probably null Het
Gpam T A 19: 55,076,608 (GRCm39) N198Y probably damaging Het
Grip1 C T 10: 119,822,255 (GRCm39) S327F possibly damaging Het
Hey2 C T 10: 30,710,352 (GRCm39) A134T probably benign Het
Kat6a T C 8: 23,428,668 (GRCm39) I1341T probably benign Het
Kcnd3 T C 3: 105,575,502 (GRCm39) L542P probably benign Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lman2 T C 13: 55,499,064 (GRCm39) D234G probably benign Het
Map3k19 A C 1: 127,745,635 (GRCm39) I1273R probably damaging Het
Matn1 T A 4: 130,677,330 (GRCm39) F180I possibly damaging Het
Meikin T A 11: 54,261,767 (GRCm39) L61* probably null Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Myh13 T C 11: 67,221,872 (GRCm39) I199T probably damaging Het
Myh4 T A 11: 67,139,287 (GRCm39) S535T probably damaging Het
Myo5a T C 9: 75,120,347 (GRCm39) M1715T probably damaging Het
Nat8 A T 6: 85,807,971 (GRCm39) V54D probably damaging Het
Nbea A G 3: 55,992,748 (GRCm39) V286A probably damaging Het
Ndnf A G 6: 65,680,998 (GRCm39) K426E possibly damaging Het
Nup210l T A 3: 90,098,279 (GRCm39) N1410K possibly damaging Het
Oca2 A T 7: 55,971,269 (GRCm39) T399S probably damaging Het
Or10al2 A T 17: 37,983,816 (GRCm39) K301* probably null Het
Or1af1 A C 2: 37,109,671 (GRCm39) T57P possibly damaging Het
Or51a43 A T 7: 103,717,666 (GRCm39) C191S probably damaging Het
Or52h7 T A 7: 104,214,278 (GRCm39) N283K probably damaging Het
Or8c10 G A 9: 38,279,492 (GRCm39) V217I probably benign Het
Or8j3 A G 2: 86,028,596 (GRCm39) S167P probably damaging Het
Otogl A C 10: 107,714,013 (GRCm39) probably null Het
Pde4b C T 4: 102,462,373 (GRCm39) T511I probably damaging Het
Proser3 A G 7: 30,239,172 (GRCm39) probably null Het
Psmd12 G A 11: 107,370,472 (GRCm39) V24M probably damaging Het
Rbm17 A T 2: 11,598,272 (GRCm39) M170K probably benign Het
Ripor3 C T 2: 167,834,573 (GRCm39) V281M probably damaging Het
Rreb1 C A 13: 38,130,904 (GRCm39) Q1353K possibly damaging Het
Sgo2a A G 1: 58,054,965 (GRCm39) D383G probably benign Het
Sik3 C T 9: 46,132,446 (GRCm39) T1346M probably damaging Het
Slx1b A T 7: 126,291,968 (GRCm39) V63E probably damaging Het
Son A G 16: 91,453,974 (GRCm39) D907G probably damaging Het
Src G A 2: 157,311,132 (GRCm39) V401M probably damaging Het
St3gal4 T C 9: 34,966,053 (GRCm39) K24E possibly damaging Het
Stat6 A G 10: 127,494,114 (GRCm39) K647R probably damaging Het
Tbl1xr1 G A 3: 22,247,333 (GRCm39) probably null Het
Tlk2 G A 11: 105,147,778 (GRCm39) probably null Het
Tmbim6 T A 15: 99,299,496 (GRCm39) I3K probably benign Het
Tmeff2 A T 1: 51,221,026 (GRCm39) I334F probably damaging Het
Ttn T C 2: 76,670,659 (GRCm39) probably null Het
Ubl7 T A 9: 57,821,894 (GRCm39) I81N probably damaging Het
Ugt1a10 A G 1: 87,983,433 (GRCm39) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,724,890 (GRCm39) C217R probably damaging Het
Usp50 T C 2: 126,603,554 (GRCm39) T331A probably benign Het
Vmn1r65 A G 7: 6,012,156 (GRCm39) V26A probably benign Het
Wdfy3 A C 5: 102,065,445 (GRCm39) V1241G possibly damaging Het
Wtap A C 17: 13,200,631 (GRCm39) probably null Het
Zbtb40 C A 4: 136,712,148 (GRCm39) A1187S possibly damaging Het
Zfp57 T C 17: 37,316,990 (GRCm39) S20P probably damaging Het
Zfp592 A G 7: 80,674,227 (GRCm39) D397G probably damaging Het
Zfp747 A T 7: 126,973,676 (GRCm39) S165T probably benign Het
Zfp949 C T 9: 88,451,891 (GRCm39) T487I probably damaging Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R 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
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
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 PCR Primer
(F):5'- AGACTAGGTGTGGCCCATCAGTG -3'
(R):5'- AGCCCAGCAGTCCTAGCTTCTC -3'

Sequencing Primer
(F):5'- TTCTATCTGTAAGAAAAGCCAGACC -3'
(R):5'- TTAGCCATGAACCTCTGGTG -3'
Posted On 2014-03-14