Incidental Mutation 'R7058:Rims2'
ID 548091
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 045155-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R7058 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39449044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1194 (D1194G)
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: D1216G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: D1216G

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 damaging
Transcript: ENSMUST00000082054
AA Change: D1174G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: D1174G

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: D1194G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect
Meta Mutation Damage Score 0.1148 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (87/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,554 (GRCm39) I419T possibly damaging Het
Afap1 T C 5: 36,119,604 (GRCm39) V294A probably benign Het
Amotl1 T A 9: 14,486,532 (GRCm39) Q454L possibly damaging Het
Ap2a1 T C 7: 44,550,215 (GRCm39) S961G probably damaging Het
Asxl3 A G 18: 22,650,731 (GRCm39) K907E probably damaging Het
BC028528 A T 3: 95,792,323 (GRCm39) L137I possibly damaging Het
Cand1 A T 10: 119,047,659 (GRCm39) N610K probably benign Het
Cat A G 2: 103,304,698 (GRCm39) I109T probably benign Het
Ccdc18 T C 5: 108,341,664 (GRCm39) V853A probably benign Het
Chd4 C A 6: 125,085,405 (GRCm39) D805E possibly damaging Het
Cnih1 A C 14: 47,017,652 (GRCm39) F77V probably damaging Het
Cntd1 A T 11: 101,178,252 (GRCm39) I284F probably damaging Het
Col6a3 C A 1: 90,755,759 (GRCm39) E177* probably null Het
Cpxm2 T A 7: 131,745,408 (GRCm39) D139V probably benign Het
Cyp1a2 G T 9: 57,584,525 (GRCm39) R510S probably damaging Het
D2hgdh T C 1: 93,763,096 (GRCm39) S294P probably damaging Het
Dchs1 A G 7: 105,406,228 (GRCm39) C2335R probably benign Het
Disc1 G T 8: 125,977,724 (GRCm39) C719F probably damaging Het
Dnah14 A C 1: 181,525,614 (GRCm39) D2180A probably benign Het
Dop1b G A 16: 93,573,878 (GRCm39) R1582Q probably benign Het
Dsg2 A T 18: 20,725,332 (GRCm39) H481L probably benign Het
Epha6 A G 16: 59,503,013 (GRCm39) S965P probably damaging Het
Esrrg G T 1: 187,882,503 (GRCm39) L253F probably damaging Het
Exoc6b T C 6: 84,831,704 (GRCm39) K438R probably damaging Het
Fam98a C A 17: 75,845,384 (GRCm39) R454L unknown Het
Fam98c A T 7: 28,855,308 (GRCm39) probably null Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Galnt13 A G 2: 54,988,587 (GRCm39) T470A probably damaging Het
Ggt7 A T 2: 155,345,015 (GRCm39) probably null Het
Golim4 T C 3: 75,785,957 (GRCm39) E606G probably damaging Het
Gpd2 G A 2: 57,197,112 (GRCm39) probably null Het
Grin2b T C 6: 135,757,304 (GRCm39) M386V probably damaging Het
Hfm1 A T 5: 107,059,306 (GRCm39) S239T probably benign Het
Hmcn1 G A 1: 150,649,641 (GRCm39) T615I probably benign Het
Hook2 G A 8: 85,724,040 (GRCm39) E446K possibly damaging Het
Hsd3b1 C T 3: 98,765,131 (GRCm39) probably null Het
Igsf9b A G 9: 27,234,150 (GRCm39) Y421C probably damaging Het
Il21 A G 3: 37,286,629 (GRCm39) L29P probably damaging Het
Ildr1 A G 16: 36,542,730 (GRCm39) S421G probably benign Het
Kat2b C A 17: 53,972,894 (GRCm39) T736K probably benign Het
Kcng1 A G 2: 168,104,529 (GRCm39) V439A probably damaging Het
Kif21a A T 15: 90,833,106 (GRCm39) probably null Het
Lat A G 7: 125,968,318 (GRCm39) probably null Het
Mastl T A 2: 23,023,425 (GRCm39) K433* probably null Het
Mettl2 A G 11: 105,019,719 (GRCm39) R119G probably benign Het
Mia2 C T 12: 59,231,021 (GRCm39) P1223L possibly damaging Het
Mkrn2os G T 6: 115,563,635 (GRCm39) D133E probably benign Het
Mslnl A G 17: 25,962,186 (GRCm39) T195A probably benign Het
Muc16 T G 9: 18,551,051 (GRCm39) T5081P probably benign Het
Mylpf G C 7: 126,813,139 (GRCm39) R110P probably damaging Het
Myo19 G T 11: 84,798,194 (GRCm39) C738F possibly damaging Het
Nat8f4 T A 6: 85,878,271 (GRCm39) N84I possibly damaging Het
Nol8 C T 13: 49,829,862 (GRCm39) R1104C probably damaging Het
Notch1 A T 2: 26,353,830 (GRCm39) D1932E probably benign Het
Nsun3 A T 16: 62,596,663 (GRCm39) C152S possibly damaging Het
Opcml G A 9: 28,586,507 (GRCm39) W75* probably null Het
Or14j10 A G 17: 37,934,597 (GRCm39) F310L probably benign Het
Pcdh7 G A 5: 57,879,582 (GRCm39) E1046K probably damaging Het
Pcdhb9 T A 18: 37,536,334 (GRCm39) V776D probably benign Het
Pla2g4a A G 1: 149,727,103 (GRCm39) L551S probably damaging Het
Plaa G A 4: 94,458,060 (GRCm39) Q637* probably null Het
Plekhh1 A T 12: 79,122,204 (GRCm39) E1099V probably damaging Het
Ppp4r1 A T 17: 66,136,495 (GRCm39) N551Y probably benign Het
R3hdm2 T C 10: 127,320,382 (GRCm39) V554A probably damaging Het
Rab44 A G 17: 29,357,150 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasgrf2 T C 13: 92,034,521 (GRCm39) T1119A probably damaging Het
Scarb1 A T 5: 125,374,294 (GRCm39) C280S probably damaging Het
Sde2 T C 1: 180,693,827 (GRCm39) F439S probably damaging Het
Setd5 T C 6: 113,092,532 (GRCm39) I304T probably benign Het
Sipa1l1 A G 12: 82,449,896 (GRCm39) E1106G probably benign Het
Sis T G 3: 72,810,940 (GRCm39) S1694R probably damaging Het
Smad9 T A 3: 54,693,614 (GRCm39) F181Y probably benign Het
Smg1 A G 7: 117,797,502 (GRCm39) probably benign Het
Sspo T C 6: 48,425,516 (GRCm39) Y46H probably damaging Het
Tdrd12 A G 7: 35,177,534 (GRCm39) M940T unknown Het
Tmem44 G T 16: 30,366,213 (GRCm39) T71K possibly damaging Het
Tmf1 T A 6: 97,133,911 (GRCm39) E1009V probably damaging Het
Ttc39a C T 4: 109,288,763 (GRCm39) R288W probably damaging Het
Ttc9c G A 19: 8,796,191 (GRCm39) probably benign Het
Usp28 T A 9: 48,950,456 (GRCm39) Y634N probably damaging Het
Vmn1r211 C T 13: 23,036,063 (GRCm39) M201I probably benign Het
Vmn2r54 T A 7: 12,349,722 (GRCm39) Q620L possibly damaging Het
Vps13c T C 9: 67,831,110 (GRCm39) L1580P probably benign Het
Vrk3 C A 7: 44,417,890 (GRCm39) F308L probably damaging Het
Zdbf2 T A 1: 63,346,563 (GRCm39) H1647Q possibly damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign 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
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
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'- ATCTGAGTAGAGTATTGCAGTACCC -3'
(R):5'- GTCATCAGTTCTACAAAACTTGACC -3'

Sequencing Primer
(F):5'- GTAGAGTATTGCAGTACCCACCATG -3'
(R):5'- TCATGTTTATTCACAGCAATAAAACC -3'
Posted On 2019-05-13