Incidental Mutation 'R2510:Rims2'
ID 252024
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 040416-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R2510 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39449048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1217 (S1217R)
Ref Sequence ENSEMBL: ENSMUSP00000048719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042917
AA Change: S1217R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: S1217R

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 possibly damaging
Transcript: ENSMUST00000082054
AA Change: S1175R

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: S1175R

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: S1195R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: S915R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228269
Meta Mutation Damage Score 0.2962 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Adra1d C A 2: 131,404,055 (GRCm39) E12* probably null Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Atxn2 C T 5: 121,919,456 (GRCm39) S388L probably damaging Het
Bbox1 A T 2: 110,135,976 (GRCm39) M1K probably null Het
Btaf1 G A 19: 36,979,845 (GRCm39) R1538H probably benign Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Copb2 T A 9: 98,453,701 (GRCm39) probably benign Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Dnah2 G T 11: 69,415,032 (GRCm39) S234* probably null Het
Dnah9 T C 11: 65,895,995 (GRCm39) Y2460C probably damaging Het
Dnai2 G C 11: 114,647,993 (GRCm39) probably benign Het
Dst C A 1: 34,251,367 (GRCm39) T1814K probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fancm A T 12: 65,160,544 (GRCm39) probably benign Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
G530012D18Rik T G 1: 85,504,925 (GRCm39) probably benign Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5117 T A 8: 32,228,383 (GRCm39) noncoding transcript Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Grm5 A G 7: 87,685,299 (GRCm39) E472G probably benign Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kat2a T C 11: 100,602,968 (GRCm39) Q88R probably benign Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Llgl1 A G 11: 60,600,862 (GRCm39) K653E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mafb T G 2: 160,208,496 (GRCm39) E34A probably damaging Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Mycbp2 C T 14: 103,392,691 (GRCm39) R3290Q probably damaging Het
Ntaq1 C A 15: 58,017,020 (GRCm39) A145D probably damaging Het
Obscn G A 11: 58,933,140 (GRCm39) probably benign Het
Olfm3 T A 3: 114,915,959 (GRCm39) V277D probably damaging Het
Omp A T 7: 97,794,552 (GRCm39) M25K possibly damaging Het
Or10d4b T A 9: 39,534,727 (GRCm39) F101I probably damaging Het
Or4b12 C T 2: 90,095,950 (GRCm39) V275I probably damaging Het
Or4k40 G A 2: 111,250,796 (GRCm39) P167S possibly damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pde12 T C 14: 26,386,681 (GRCm39) *609W probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Ppp1r37 T C 7: 19,266,357 (GRCm39) K470E possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rorc C T 3: 94,296,427 (GRCm39) T208I probably benign Het
Ryr3 C T 2: 112,506,249 (GRCm39) E3458K probably benign Het
Scn5a A T 9: 119,362,751 (GRCm39) V623E probably benign Het
Slc28a2 C T 2: 122,281,497 (GRCm39) Q229* probably null Het
Slc35f3 C T 8: 127,025,445 (GRCm39) probably benign Het
Spg11 T G 2: 121,905,791 (GRCm39) I1285L probably benign Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Susd1 A T 4: 59,349,855 (GRCm39) V527E possibly damaging Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Ttn T C 2: 76,571,336 (GRCm39) D26519G probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn1r37 T C 6: 66,708,935 (GRCm39) L150P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r52 G T 7: 9,904,795 (GRCm39) A348E probably benign Het
Ypel5 T C 17: 73,153,386 (GRCm39) L30P probably damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly 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
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'- AGTATTGCAGTACCCACCATG -3'
(R):5'- GTCATCAGTTCTACAAAACTTGACC -3'

Sequencing Primer
(F):5'- CCACCATGGACAGTTAAAGTGCTG -3'
(R):5'- ACCCTCTGAAGTACACAG -3'
Posted On 2014-12-04