Incidental Mutation 'R1985:Rims2'
ID 220541
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 039997-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R1985 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39208710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 171 (M171K)
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: M131K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: M131K

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: M171K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: M171K

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: M131K

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.7224 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (76/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C A 8: 71,916,157 (GRCm39) probably benign Het
Adam5 A T 8: 25,236,755 (GRCm39) D648E probably benign Het
Akr1d1 A G 6: 37,535,336 (GRCm39) D240G probably damaging Het
Ankmy2 A G 12: 36,207,363 (GRCm39) H3R possibly damaging Het
Anpep A C 7: 79,490,605 (GRCm39) probably null Het
Apobr A G 7: 126,186,903 (GRCm39) T20A possibly damaging Het
Atp2a2 A T 5: 122,604,899 (GRCm39) Y427N probably benign Het
Camkk2 A C 5: 122,902,190 (GRCm39) S40A possibly damaging Het
Camp T C 9: 109,677,497 (GRCm39) N112S probably benign Het
Cbx7 A G 15: 79,802,591 (GRCm39) S229P probably damaging Het
Cnot2 T C 10: 116,363,781 (GRCm39) N41S probably damaging Het
Dchs1 A G 7: 105,421,605 (GRCm39) F272L possibly damaging Het
Dct T C 14: 118,273,954 (GRCm39) K318E probably benign Het
Dhrs11 A C 11: 84,719,633 (GRCm39) L31V probably damaging Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dnajc7 A G 11: 100,481,718 (GRCm39) S305P probably benign Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Flnc A G 6: 29,444,415 (GRCm39) probably benign Het
Garin3 T C 11: 46,298,693 (GRCm39) *666Q probably null Het
Gm7535 A G 17: 18,131,800 (GRCm39) probably benign Het
Grtp1 A G 8: 13,229,376 (GRCm39) F313L probably damaging Het
Haus6 T C 4: 86,511,846 (GRCm39) Y425C possibly damaging Het
Hdac1 T A 4: 129,422,753 (GRCm39) N83Y possibly damaging Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hipk3 T C 2: 104,264,780 (GRCm39) I737V probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Ints3 C T 3: 90,307,610 (GRCm39) probably null Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kdm4b T A 17: 56,708,302 (GRCm39) V957E probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Klhl11 G T 11: 100,354,070 (GRCm39) Q584K probably benign Het
Krt9 A T 11: 100,080,817 (GRCm39) M345K probably benign Het
Lgr5 T C 10: 115,331,150 (GRCm39) probably benign Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Ly9 A G 1: 171,427,341 (GRCm39) S405P probably damaging Het
Myh2 A G 11: 67,071,740 (GRCm39) D519G possibly damaging Het
Nav3 G A 10: 109,606,045 (GRCm39) probably benign Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Ninj2 A T 6: 120,175,600 (GRCm39) probably benign Het
Obsl1 A G 1: 75,482,244 (GRCm39) C209R probably damaging Het
Or13a25 G A 7: 140,247,734 (GRCm39) C171Y probably damaging Het
Or2d4 A G 7: 106,544,133 (GRCm39) I25T probably benign Het
Or2j6 A T 7: 139,980,713 (GRCm39) M82K possibly damaging Het
Or2t44 A C 11: 58,677,210 (GRCm39) D50A probably damaging Het
Or2y1g T C 11: 49,171,110 (GRCm39) I45T probably damaging Het
Or52z14 A T 7: 103,252,879 (GRCm39) Y6F probably benign Het
Otud4 G C 8: 80,366,641 (GRCm39) R36P probably damaging Het
Pcnt C T 10: 76,216,171 (GRCm39) R2239H possibly damaging Het
Pgbd5 T A 8: 125,097,331 (GRCm39) M491L probably benign Het
Pitrm1 A T 13: 6,608,220 (GRCm39) D316V probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pramel52-ps A T 5: 94,531,931 (GRCm39) I272L probably benign Het
Prickle2 T C 6: 92,388,433 (GRCm39) D323G probably damaging Het
Psmd11 A T 11: 80,336,089 (GRCm39) I114F probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbp3 T G 14: 33,678,418 (GRCm39) S789A probably benign Het
Rfxap C A 3: 54,714,747 (GRCm39) R117L probably damaging Het
Scin A G 12: 40,183,907 (GRCm39) probably null Het
Scn11a A G 9: 119,583,744 (GRCm39) S1624P probably benign Het
Slc41a3 G A 6: 90,619,210 (GRCm39) V330M probably damaging Het
Slc9c1 A G 16: 45,370,469 (GRCm39) I237V probably benign Het
Spag6 A G 2: 18,736,930 (GRCm39) I218V probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tbc1d24 G A 17: 24,426,938 (GRCm39) R318* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Trpm3 T A 19: 22,903,446 (GRCm39) Y1069N possibly damaging Het
Tuba8 A G 6: 121,197,479 (GRCm39) D47G probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Uqcc6 T A 10: 82,456,051 (GRCm39) T37S possibly damaging Het
Wdr7 GTT GT 18: 63,893,654 (GRCm39) probably null Het
Ybx2 A G 11: 69,827,294 (GRCm39) probably null Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp788 T A 7: 41,299,905 (GRCm39) I795N 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
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'- GCTGAAAGCTTTACTTCCCG -3'
(R):5'- ATAAGTCACCTGGGGCTCCTTG -3'

Sequencing Primer
(F):5'- CAAATCGACTGTCTCTCAAATTCATC -3'
(R):5'- CTGGGGCTCCTTGGAACTG -3'
Posted On 2014-08-25