Incidental Mutation 'R7836:Rims2'
ID 606006
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 045890-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R7836 (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 39544475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1484 (Y1484C)
Ref Sequence ENSEMBL: ENSMUSP00000048719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000226410] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042917
AA Change: Y1484C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: Y1484C

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: Y1442C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: Y1442C

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: ENSMUST00000226410
AA Change: Y197C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227243
AA Change: Y1462C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (76/77)
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
Abcb4 T G 5: 8,984,203 (GRCm39) S644R probably benign Het
Adra2a A G 19: 54,034,659 (GRCm39) E5G probably benign Het
Ankrd1 A T 19: 36,092,922 (GRCm39) V201D possibly damaging Het
Ano9 A T 7: 140,683,114 (GRCm39) V598E probably damaging Het
Apob T A 12: 8,051,885 (GRCm39) M1150K possibly damaging Het
BC005624 A T 2: 30,864,032 (GRCm39) I187N probably damaging Het
Bltp3b C T 10: 89,651,968 (GRCm39) T1381I probably benign Het
Ccl9 T C 11: 83,467,257 (GRCm39) E31G probably benign Het
Cnnm4 T A 1: 36,511,019 (GRCm39) D82E probably benign Het
Coq10b T C 1: 55,092,013 (GRCm39) probably benign Het
Cplane1 T G 15: 8,233,241 (GRCm39) F1189V probably damaging Het
Cyb561 T C 11: 105,830,935 (GRCm39) N50S probably benign Het
Dctn4 G T 18: 60,679,348 (GRCm39) A223S probably benign Het
Dysf A G 6: 84,114,380 (GRCm39) Y1223C probably damaging Het
Eed C T 7: 89,630,022 (GRCm39) probably benign Het
Eef1g T A 19: 8,954,738 (GRCm39) V305E probably benign Het
Eif4ebp2 C A 10: 61,270,772 (GRCm39) A86S probably benign Het
Ermp1 T C 19: 29,609,788 (GRCm39) probably null Het
Hid1 T C 11: 115,249,821 (GRCm39) Y198C probably damaging Het
Hoxd1 C A 2: 74,593,816 (GRCm39) A124E probably benign Het
Hyal5 G A 6: 24,891,347 (GRCm39) C387Y probably damaging Het
Il11 A G 7: 4,778,999 (GRCm39) S103P probably damaging Het
Lgalsl2 A T 7: 5,362,507 (GRCm39) K46M probably damaging Het
Lmtk3 A C 7: 45,436,327 (GRCm39) I128L possibly damaging Het
Lrrc4b G T 7: 44,094,316 (GRCm39) probably benign Het
Magel2 T A 7: 62,028,116 (GRCm39) I340N possibly damaging Het
Mfsd14a A T 3: 116,442,200 (GRCm39) F71I possibly damaging Het
Mgarp A G 3: 51,296,487 (GRCm39) S172P probably benign Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Naa15 G T 3: 51,370,688 (GRCm39) E651* probably null Het
Ndfip2 T C 14: 105,529,675 (GRCm39) V168A probably benign Het
Neb C A 2: 52,113,373 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,968 (GRCm39) V312A possibly damaging Het
Nrap T C 19: 56,338,729 (GRCm39) I953V probably benign Het
Ntrk1 T A 3: 87,687,041 (GRCm39) K706* probably null Het
Nuf2 A T 1: 169,352,898 (GRCm39) F36I probably benign Het
Or51h7 T A 7: 102,591,125 (GRCm39) T220S possibly damaging Het
Or5aq7 T C 2: 86,937,861 (GRCm39) Y290C probably damaging Het
Pcdh8 T G 14: 80,006,101 (GRCm39) T821P possibly damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ptch2 C A 4: 116,962,224 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,719 (GRCm39) I50V probably benign Het
Pth2r G T 1: 65,390,722 (GRCm39) W292L probably damaging Het
Ptprd G A 4: 75,900,881 (GRCm39) T825M probably damaging Het
Ptprk T C 10: 28,449,385 (GRCm39) Y987H probably damaging Het
Qser1 T C 2: 104,606,579 (GRCm39) E1470G probably damaging Het
Rab11fip3 T C 17: 26,287,232 (GRCm39) E307G possibly damaging Het
Rock1 A T 18: 10,097,651 (GRCm39) probably null Het
Slc15a1 T A 14: 121,718,145 (GRCm39) K245* probably null Het
Snx11 T A 11: 96,660,032 (GRCm39) E219V possibly damaging Het
Sox21 C A 14: 118,472,729 (GRCm39) E107* probably null Het
Spink5 T A 18: 44,132,888 (GRCm39) H501Q probably benign Het
Stard5 C T 7: 83,285,984 (GRCm39) T103M probably damaging Het
Stfa2l1 A T 16: 35,977,203 (GRCm39) probably benign Het
Sult1c2 A C 17: 54,271,076 (GRCm39) V185G probably damaging Het
Svs5 A G 2: 164,079,500 (GRCm39) S136P possibly damaging Het
Sytl3 T A 17: 6,982,774 (GRCm39) probably null Het
Tc2n C T 12: 101,619,112 (GRCm39) V349I possibly damaging Het
Tln1 A G 4: 43,554,309 (GRCm39) V271A probably benign Het
Tmem260 T A 14: 48,746,519 (GRCm39) S446R probably benign Het
Trim30a T C 7: 104,084,802 (GRCm39) D136G probably benign Het
Ulk4 A T 9: 120,873,885 (GRCm39) I1182N possibly damaging Het
Unc50 T G 1: 37,476,377 (GRCm39) I179S possibly damaging Het
Upb1 T A 10: 75,248,667 (GRCm39) Y57* probably null Het
Usp34 C T 11: 23,396,614 (GRCm39) T2349I Het
Vmn1r71 A G 7: 10,482,277 (GRCm39) V137A possibly damaging Het
Vmn1r85 T C 7: 12,818,698 (GRCm39) I149V probably benign Het
Vmn2r118 A G 17: 55,900,242 (GRCm39) L554P probably damaging Het
Wdr4 C G 17: 31,718,782 (GRCm39) probably null Het
Zbbx A T 3: 74,985,781 (GRCm39) S424T possibly damaging Het
Zfp207 C G 11: 80,282,726 (GRCm39) P246A probably damaging Het
Zfp414 T A 17: 33,848,962 (GRCm39) Y65* probably null Het
Zfp600 T A 4: 146,133,523 (GRCm39) N730K probably benign Het
Zfp827 T C 8: 79,912,979 (GRCm39) L1073P probably damaging Het
Zfp986 A G 4: 145,625,691 (GRCm39) K117R possibly damaging Het
Zgrf1 T A 3: 127,357,080 (GRCm39) Y769N probably damaging Het
Zup1 A T 10: 33,795,315 (GRCm39) I547N unknown 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
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
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'- CTGTCCATTGTGGCTCTGAC -3'
(R):5'- CAGCTGACAGAGAATTTCAGC -3'

Sequencing Primer
(F):5'- CTGCCAGCTCTTCAGTGAAGATG -3'
(R):5'- TTTCAGCCATGACGAACGG -3'
Posted On 2019-12-20