Incidental Mutation 'R5685:Rims2'
ID 443311
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39300602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 111 (H111L)
Ref Sequence ENSEMBL: ENSMUSP00000154645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243] [ENSMUST00000228839]
AlphaFold Q9EQZ7
Predicted Effect probably benign
Transcript: ENSMUST00000042917
AA Change: H303L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: H303L

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
AA Change: H343L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: H343L

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 noncoding transcript
Transcript: ENSMUST00000226243
Predicted Effect probably benign
Transcript: ENSMUST00000227243
AA Change: H303L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: H70L
Predicted Effect possibly damaging
Transcript: ENSMUST00000228839
AA Change: H111L

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228867
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H 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
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'- TCAGTGTCCAGGGATCAAAATCG -3'
(R):5'- TGCCAAAGAAACATCACTGTGC -3'

Sequencing Primer
(F):5'- TCGAAGATACGAGCAAAGTGAAG -3'
(R):5'- AGAAACATCACTGTGCCTTCTC -3'
Posted On 2016-11-09