Incidental Mutation 'IGL03102:Rims2'
ID418769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Nameregulating synaptic membrane exocytosis 2
Synonyms2810036I15Rik, Syt3-rs, RIM2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.517) question?
Stock #IGL03102
Quality Score
Status
Chromosome15
Chromosomal Location39198261-39684372 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39459593 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 768 (I768F)
Ref Sequence ENSEMBL: ENSMUSP00000080711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
Predicted Effect probably benign
Transcript: ENSMUST00000042917
AA Change: I728F

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: I728F

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: I768F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: I768F

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 benign
Transcript: ENSMUST00000227243
AA Change: I728F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000227381
AA Change: I448F
Coding Region Coverage
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik T C 7: 127,384,779 T384A probably benign Het
Alpk3 T C 7: 81,095,056 probably null Het
Alyref G A 11: 120,597,765 P79L possibly damaging Het
Arhgap28 T C 17: 67,896,236 D74G probably damaging Het
Arhgap8 G T 15: 84,766,307 probably benign Het
Atp1a4 T A 1: 172,231,151 D909V probably damaging Het
Cdc5l A T 17: 45,407,931 D586E probably damaging Het
Chd3 G T 11: 69,361,196 Y79* probably null Het
Cnot3 C A 7: 3,656,156 S467* probably null Het
Col18a1 A T 10: 77,067,623 probably benign Het
Col19a1 C A 1: 24,328,053 G483C probably damaging Het
Col5a3 A C 9: 20,804,635 probably null Het
Dctn5 A T 7: 122,133,159 N9I probably benign Het
Emc10 T A 7: 44,491,989 N225I probably damaging Het
Fam213b T C 4: 154,896,601 probably benign Het
Fam219b A G 9: 57,540,698 Y158C probably damaging Het
Fras1 T C 5: 96,726,535 V2273A probably benign Het
Frem3 T A 8: 80,613,032 H651Q possibly damaging Het
Gm13023 T C 4: 143,793,546 V120A possibly damaging Het
Gm4076 T A 13: 85,127,319 noncoding transcript Het
Gpr35 A T 1: 92,982,577 T4S probably benign Het
Ifnab T G 4: 88,690,825 T135P possibly damaging Het
Jag1 T C 2: 137,084,688 I979V probably benign Het
Kank1 G T 19: 25,425,918 M1097I probably damaging Het
Kcnq3 A G 15: 66,028,788 V206A probably damaging Het
Kel T C 6: 41,702,983 K91R probably benign Het
Kirrel G T 3: 87,083,500 R672S probably damaging Het
Kmt2d A G 15: 98,855,543 M143T probably benign Het
Kpna1 A G 16: 36,012,919 I122V probably damaging Het
Lrpap1 A G 5: 35,093,350 S353P probably damaging Het
Mtfr1l T A 4: 134,532,232 Q11L probably damaging Het
Muc5b G A 7: 141,863,069 V3251M probably benign Het
Mup8 C T 4: 60,219,746 D174N probably benign Het
Nup155 A T 15: 8,147,284 E1015D probably benign Het
Olfr1338 C A 4: 118,753,934 L201F probably benign Het
Olfr1499 T C 19: 13,815,371 Y73C probably damaging Het
P2rx7 T C 5: 122,663,605 F188L possibly damaging Het
Pacrg A G 17: 10,839,832 F13L probably benign Het
Palb2 A T 7: 122,124,499 S676T possibly damaging Het
Pdia6 T A 12: 17,281,039 probably null Het
Pfkm A T 15: 98,126,385 I425F possibly damaging Het
Pikfyve C T 1: 65,252,467 R1282* probably null Het
Pole C T 5: 110,297,073 L432F probably damaging Het
Psat1 A G 19: 15,906,123 Y343H probably damaging Het
Ptprj C T 2: 90,478,968 R51K probably benign Het
Qars A G 9: 108,508,919 D103G probably benign Het
Robo4 T A 9: 37,404,185 V275E probably damaging Het
Ryr2 A G 13: 11,635,582 probably benign Het
Sez6l T C 5: 112,475,403 H94R probably benign Het
Slco1c1 T A 6: 141,544,827 N211K possibly damaging Het
Strbp T C 2: 37,586,503 probably benign Het
Tceanc2 T A 4: 107,147,681 H90L probably damaging Het
Tdrkh A T 3: 94,424,537 T90S possibly damaging Het
Tiam2 A G 17: 3,509,548 D1288G probably damaging Het
Tln1 T C 4: 43,532,861 D2447G possibly damaging Het
Tmem63c G A 12: 87,065,549 V141M probably benign Het
Tpp2 T A 1: 43,956,489 V268E probably damaging Het
Tprkb T A 6: 85,924,418 C13S probably benign Het
Traf3ip3 T C 1: 193,195,077 T184A probably damaging Het
Trpc6 T A 9: 8,649,301 M504K probably benign Het
Ttn G T 2: 76,767,223 S18036* probably null Het
Wdfy4 A T 14: 32,966,435 C2914S probably damaging Het
Ylpm1 T A 12: 85,049,258 probably benign Het
Zfp644 T C 5: 106,637,268 H471R probably damaging Het
Zfyve16 C T 13: 92,511,817 E910K possibly damaging Het
Other mutations in Rims2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Rims2 APN 15 39459615 missense probably benign 0.11
IGL00502:Rims2 APN 15 39506984 missense probably damaging 1.00
IGL00556:Rims2 APN 15 39456674 splice site probably null
IGL00811:Rims2 APN 15 39292149 missense probably damaging 1.00
IGL00827:Rims2 APN 15 39472359 missense probably damaging 0.99
IGL01642:Rims2 APN 15 39457796 missense probably damaging 1.00
IGL02951:Rims2 APN 15 39534938 missense probably damaging 1.00
IGL03009:Rims2 APN 15 39566997 missense possibly damaging 0.85
IGL03080:Rims2 APN 15 39535903 missense probably damaging 1.00
IGL03252:Rims2 APN 15 39452352 missense probably benign
IGL03365:Rims2 APN 15 39476541 missense probably damaging 1.00
IGL03393:Rims2 APN 15 39462613 splice site probably null
IGL03409:Rims2 APN 15 39456733 missense probably damaging 1.00
PIT4486001:Rims2 UTSW 15 39476520 missense possibly damaging 0.67
R0009:Rims2 UTSW 15 39534966 missense probably damaging 0.99
R0009:Rims2 UTSW 15 39534966 missense probably damaging 0.99
R0078:Rims2 UTSW 15 39534855 missense probably benign 0.42
R0367:Rims2 UTSW 15 39462615 splice site probably null
R0401:Rims2 UTSW 15 39509632 splice site probably benign
R0531:Rims2 UTSW 15 39567030 missense probably damaging 1.00
R0791:Rims2 UTSW 15 39679625 splice site probably benign
R0838:Rims2 UTSW 15 39681025 missense probably benign 0.02
R1201:Rims2 UTSW 15 39616324 missense possibly damaging 0.91
R1318:Rims2 UTSW 15 39517826 missense probably damaging 0.99
R1457:Rims2 UTSW 15 39511314 missense possibly damaging 0.63
R1619:Rims2 UTSW 15 39506986 missense probably damaging 1.00
R1672:Rims2 UTSW 15 39292189 missense probably benign 0.09
R1743:Rims2 UTSW 15 39679650 missense probably benign 0.10
R1766:Rims2 UTSW 15 39462580 missense probably damaging 0.99
R1779:Rims2 UTSW 15 39681702 missense probably damaging 1.00
R1804:Rims2 UTSW 15 39437043 nonsense probably null
R1985:Rims2 UTSW 15 39345314 missense probably damaging 0.99
R1986:Rims2 UTSW 15 39345314 missense probably damaging 0.99
R2113:Rims2 UTSW 15 39511326 missense probably benign 0.17
R2260:Rims2 UTSW 15 39478566 nonsense probably null
R2510:Rims2 UTSW 15 39585652 missense probably damaging 1.00
R3693:Rims2 UTSW 15 39478575 missense probably benign 0.01
R3937:Rims2 UTSW 15 39437845 missense probably damaging 1.00
R4425:Rims2 UTSW 15 39437924 critical splice donor site probably null
R4453:Rims2 UTSW 15 39292208 missense probably damaging 1.00
R4474:Rims2 UTSW 15 39462560 missense probably damaging 1.00
R4518:Rims2 UTSW 15 39437526 missense probably damaging 1.00
R4526:Rims2 UTSW 15 39437717 missense probably damaging 1.00
R4833:Rims2 UTSW 15 39535914 missense probably damaging 0.98
R4936:Rims2 UTSW 15 39437728 missense probably damaging 1.00
R4993:Rims2 UTSW 15 39454445 missense possibly damaging 0.90
R5001:Rims2 UTSW 15 39452428 missense probably benign 0.03
R5054:Rims2 UTSW 15 39517869 intron probably null
R5072:Rims2 UTSW 15 39462590 missense probably benign 0.01
R5171:Rims2 UTSW 15 39437103 missense probably damaging 1.00
R5429:Rims2 UTSW 15 39345355 missense probably damaging 1.00
R5623:Rims2 UTSW 15 39478615 missense probably damaging 1.00
R5624:Rims2 UTSW 15 39345413 missense possibly damaging 0.46
R5685:Rims2 UTSW 15 39437206 missense possibly damaging 0.67
R5784:Rims2 UTSW 15 39535987 splice site probably null
R5790:Rims2 UTSW 15 39681045 missense probably damaging 1.00
R5822:Rims2 UTSW 15 39476490 missense probably damaging 1.00
R5963:Rims2 UTSW 15 39437182 missense probably damaging 1.00
R5988:Rims2 UTSW 15 39292182 missense probably damaging 1.00
R6057:Rims2 UTSW 15 39675020 missense probably damaging 1.00
R6239:Rims2 UTSW 15 39198363 start codon destroyed unknown
R6407:Rims2 UTSW 15 39452328 missense probably damaging 1.00
R6418:Rims2 UTSW 15 39509696 missense probably damaging 1.00
R6495:Rims2 UTSW 15 39517812 missense probably benign 0.01
R6502:Rims2 UTSW 15 39534855 missense probably benign 0.42
R6753:Rims2 UTSW 15 39566973 missense possibly damaging 0.74
R6855:Rims2 UTSW 15 39345515 missense probably benign 0.06
R6948:Rims2 UTSW 15 39511341 missense probably benign
R7058:Rims2 UTSW 15 39585648 missense probably damaging 1.00
R7167:Rims2 UTSW 15 39437077 missense probably benign
R7217:Rims2 UTSW 15 39476489 missense probably damaging 0.99
R7223:Rims2 UTSW 15 39437032 missense probably benign 0.30
R7289:Rims2 UTSW 15 39437718 missense probably benign 0.00
R7459:Rims2 UTSW 15 39517839 missense probably benign
R7663:Rims2 UTSW 15 39507026 missense probably damaging 1.00
X0034:Rims2 UTSW 15 39437534 missense probably benign
Posted On2016-08-02