Incidental Mutation 'R4425:Rims2'
ID 328128
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 041144-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R4425 (G1)
Quality Score 184
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 39301320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243] [ENSMUST00000228839]
AlphaFold Q9EQZ7
Predicted Effect probably null
Transcript: ENSMUST00000042917
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386

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 null
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 noncoding transcript
Transcript: ENSMUST00000226243
Predicted Effect probably null
Transcript: ENSMUST00000227243
Predicted Effect probably null
Transcript: ENSMUST00000227381
Predicted Effect probably null
Transcript: ENSMUST00000228839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228867
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,236,870 (GRCm39) T1456A probably damaging Het
Acad11 T C 9: 103,950,844 (GRCm39) F56S probably damaging Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Amh A G 10: 80,642,755 (GRCm39) D313G probably damaging Het
Ampd2 T C 3: 107,994,052 (GRCm39) probably benign Het
Arap3 A G 18: 38,111,653 (GRCm39) L1115P probably damaging Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cd163 T C 6: 124,304,862 (GRCm39) S1080P possibly damaging Het
Ceacam10 A T 7: 24,480,433 (GRCm39) Y68F possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfh A T 1: 140,028,613 (GRCm39) Y688* probably null Het
Chrnb1 A T 11: 69,677,773 (GRCm39) S326R probably damaging Het
Cngb1 C T 8: 96,026,344 (GRCm39) V25M probably damaging Het
Cyp2c50 A T 19: 40,079,136 (GRCm39) N160Y possibly damaging Het
Dalrd3 T C 9: 108,448,800 (GRCm39) probably benign Het
Eef1d C A 15: 75,774,648 (GRCm39) S253I possibly damaging Het
Efl1 G A 7: 82,412,491 (GRCm39) C960Y probably damaging Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Epb41l2 C A 10: 25,382,078 (GRCm39) D701E possibly damaging Het
Fbxl4 T A 4: 22,422,699 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Igkv10-95 A T 6: 68,657,606 (GRCm39) I21F probably damaging Het
Il10rb C A 16: 91,204,603 (GRCm39) N51K possibly damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lrig3 T C 10: 125,849,273 (GRCm39) S998P probably benign Het
Lrrc8c T A 5: 105,755,755 (GRCm39) M510K probably benign Het
Nfrkb G T 9: 31,311,258 (GRCm39) C369F probably damaging Het
Nphp1 T C 2: 127,630,719 (GRCm39) E19G possibly damaging Het
Or10a5 A C 7: 106,635,698 (GRCm39) E112A probably damaging Het
Or4f14b T C 2: 111,775,534 (GRCm39) H89R probably benign Het
Ovol3 A T 7: 29,934,789 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Sh3rf3 T C 10: 58,919,398 (GRCm39) V505A probably benign Het
Shkbp1 T C 7: 27,042,727 (GRCm39) N570S probably benign Het
Slc35f4 C T 14: 49,556,307 (GRCm39) V149I possibly damaging Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tagap1 G A 17: 7,223,511 (GRCm39) S395L probably benign Het
Tcstv2b C A 13: 120,373,908 (GRCm39) L127F probably damaging Het
Tek A G 4: 94,751,904 (GRCm39) T1014A probably damaging Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpo T C 12: 30,154,015 (GRCm39) Y230C probably damaging Het
Trav12-2 A G 14: 53,854,332 (GRCm39) Q102R possibly damaging Het
Ttn G A 2: 76,733,430 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,973 (GRCm39) I259F probably benign Het
Vmn1r228 T C 17: 20,996,861 (GRCm39) E219G probably damaging Het
Vsig8 G T 1: 172,390,714 (GRCm39) G254V probably damaging Het
Vwa8 A G 14: 79,320,246 (GRCm39) I1086V probably benign Het
Zfp423 G A 8: 88,509,601 (GRCm39) H123Y probably damaging Het
Zfp811 A T 17: 33,016,521 (GRCm39) C506* 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
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'- TTGAGTTCAGACCAGTCCGAGTC -3'
(R):5'- ATCTAAGGATGTAGAAACCCTCAG -3'

Sequencing Primer
(F):5'- ACCAGTCCGAGTCAGTGAG -3'
(R):5'- TCTACCATGGCCAACACT -3'
Posted On 2015-07-07