Incidental Mutation 'R6753:Rims2'
ID 530922
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms 2810036I15Rik, Syt3-rs, RIM2
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39198261-39684372 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39566973 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 871 (Q871R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]
AlphaFold Q9EQZ7
Predicted Effect probably benign
Transcript: ENSMUST00000042917
AA Change: Q1173R

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: Q1173R

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 benign
Transcript: ENSMUST00000082054
AA Change: Q1131R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: Q1131R

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: Q1151R

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227381
AA Change: Q871R

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,010,151 (GRCm38) P1083S probably benign Het
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akap10 A T 11: 61,886,777 (GRCm38) M586K probably damaging Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Gucy1b1 T C 3: 82,039,747 (GRCm38) D385G probably null Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Jaml A G 9: 45,107,379 (GRCm38) N359D probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Olfr987 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pcnx C A 12: 81,964,480 (GRCm38) D1238E probably damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zufsp A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Rims2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Rims2 APN 15 39,459,615 (GRCm38) missense probably benign 0.11
IGL00502:Rims2 APN 15 39,506,984 (GRCm38) missense probably damaging 1.00
IGL00556:Rims2 APN 15 39,456,674 (GRCm38) splice site probably null
IGL00811:Rims2 APN 15 39,292,149 (GRCm38) missense probably damaging 1.00
IGL00827:Rims2 APN 15 39,472,359 (GRCm38) missense probably damaging 0.99
IGL01642:Rims2 APN 15 39,457,796 (GRCm38) missense probably damaging 1.00
IGL02951:Rims2 APN 15 39,534,938 (GRCm38) missense probably damaging 1.00
IGL03009:Rims2 APN 15 39,566,997 (GRCm38) missense possibly damaging 0.85
IGL03080:Rims2 APN 15 39,535,903 (GRCm38) missense probably damaging 1.00
IGL03102:Rims2 APN 15 39,459,593 (GRCm38) missense possibly damaging 0.95
IGL03252:Rims2 APN 15 39,452,352 (GRCm38) missense probably benign
IGL03365:Rims2 APN 15 39,476,541 (GRCm38) missense probably damaging 1.00
IGL03393:Rims2 APN 15 39,462,613 (GRCm38) splice site probably null
IGL03409:Rims2 APN 15 39,456,733 (GRCm38) missense probably damaging 1.00
rhyme UTSW 15 39,452,328 (GRCm38) missense probably damaging 1.00
PIT4486001:Rims2 UTSW 15 39,476,520 (GRCm38) missense possibly damaging 0.67
R0009:Rims2 UTSW 15 39,534,966 (GRCm38) missense probably damaging 0.99
R0009:Rims2 UTSW 15 39,534,966 (GRCm38) missense probably damaging 0.99
R0078:Rims2 UTSW 15 39,534,855 (GRCm38) missense probably benign 0.42
R0367:Rims2 UTSW 15 39,462,615 (GRCm38) splice site probably null
R0401:Rims2 UTSW 15 39,509,632 (GRCm38) splice site probably benign
R0531:Rims2 UTSW 15 39,567,030 (GRCm38) missense probably damaging 1.00
R0791:Rims2 UTSW 15 39,679,625 (GRCm38) splice site probably benign
R0838:Rims2 UTSW 15 39,681,025 (GRCm38) missense probably benign 0.02
R1201:Rims2 UTSW 15 39,616,324 (GRCm38) missense possibly damaging 0.91
R1318:Rims2 UTSW 15 39,517,826 (GRCm38) missense probably damaging 0.99
R1457:Rims2 UTSW 15 39,511,314 (GRCm38) missense possibly damaging 0.63
R1619:Rims2 UTSW 15 39,506,986 (GRCm38) missense probably damaging 1.00
R1672:Rims2 UTSW 15 39,292,189 (GRCm38) missense probably benign 0.09
R1743:Rims2 UTSW 15 39,679,650 (GRCm38) missense probably benign 0.10
R1766:Rims2 UTSW 15 39,462,580 (GRCm38) missense probably damaging 0.99
R1779:Rims2 UTSW 15 39,681,702 (GRCm38) missense probably damaging 1.00
R1804:Rims2 UTSW 15 39,437,043 (GRCm38) nonsense probably null
R1985:Rims2 UTSW 15 39,345,314 (GRCm38) missense probably damaging 0.99
R1986:Rims2 UTSW 15 39,345,314 (GRCm38) missense probably damaging 0.99
R2113:Rims2 UTSW 15 39,511,326 (GRCm38) missense probably benign 0.17
R2260:Rims2 UTSW 15 39,478,566 (GRCm38) nonsense probably null
R2510:Rims2 UTSW 15 39,585,652 (GRCm38) missense probably damaging 1.00
R3693:Rims2 UTSW 15 39,478,575 (GRCm38) missense probably benign 0.01
R3937:Rims2 UTSW 15 39,437,845 (GRCm38) missense probably damaging 1.00
R4425:Rims2 UTSW 15 39,437,924 (GRCm38) critical splice donor site probably null
R4453:Rims2 UTSW 15 39,292,208 (GRCm38) missense probably damaging 1.00
R4474:Rims2 UTSW 15 39,462,560 (GRCm38) missense probably damaging 1.00
R4518:Rims2 UTSW 15 39,437,526 (GRCm38) missense probably damaging 1.00
R4526:Rims2 UTSW 15 39,437,717 (GRCm38) missense probably damaging 1.00
R4833:Rims2 UTSW 15 39,535,914 (GRCm38) missense probably damaging 0.98
R4936:Rims2 UTSW 15 39,437,728 (GRCm38) missense probably damaging 1.00
R4993:Rims2 UTSW 15 39,454,445 (GRCm38) missense possibly damaging 0.90
R5001:Rims2 UTSW 15 39,452,428 (GRCm38) missense probably benign 0.03
R5054:Rims2 UTSW 15 39,517,869 (GRCm38) splice site probably null
R5072:Rims2 UTSW 15 39,462,590 (GRCm38) missense probably benign 0.01
R5171:Rims2 UTSW 15 39,437,103 (GRCm38) missense probably damaging 1.00
R5429:Rims2 UTSW 15 39,345,355 (GRCm38) missense probably damaging 1.00
R5623:Rims2 UTSW 15 39,478,615 (GRCm38) missense probably damaging 1.00
R5624:Rims2 UTSW 15 39,345,413 (GRCm38) missense possibly damaging 0.46
R5685:Rims2 UTSW 15 39,437,206 (GRCm38) missense possibly damaging 0.67
R5784:Rims2 UTSW 15 39,535,987 (GRCm38) splice site probably null
R5790:Rims2 UTSW 15 39,681,045 (GRCm38) missense probably damaging 1.00
R5822:Rims2 UTSW 15 39,476,490 (GRCm38) missense probably damaging 1.00
R5963:Rims2 UTSW 15 39,437,182 (GRCm38) missense probably damaging 1.00
R5988:Rims2 UTSW 15 39,292,182 (GRCm38) missense probably damaging 1.00
R6057:Rims2 UTSW 15 39,675,020 (GRCm38) missense probably damaging 1.00
R6239:Rims2 UTSW 15 39,198,363 (GRCm38) start codon destroyed unknown
R6407:Rims2 UTSW 15 39,452,328 (GRCm38) missense probably damaging 1.00
R6418:Rims2 UTSW 15 39,509,696 (GRCm38) missense probably damaging 1.00
R6495:Rims2 UTSW 15 39,517,812 (GRCm38) missense probably benign 0.01
R6502:Rims2 UTSW 15 39,534,855 (GRCm38) missense probably benign 0.42
R6855:Rims2 UTSW 15 39,345,515 (GRCm38) missense probably benign 0.06
R6948:Rims2 UTSW 15 39,511,341 (GRCm38) missense probably benign
R7058:Rims2 UTSW 15 39,585,648 (GRCm38) missense probably damaging 1.00
R7167:Rims2 UTSW 15 39,437,077 (GRCm38) missense probably benign
R7217:Rims2 UTSW 15 39,476,489 (GRCm38) missense probably damaging 0.99
R7223:Rims2 UTSW 15 39,437,032 (GRCm38) missense probably benign 0.30
R7289:Rims2 UTSW 15 39,437,718 (GRCm38) missense probably benign 0.00
R7459:Rims2 UTSW 15 39,517,839 (GRCm38) missense probably benign
R7663:Rims2 UTSW 15 39,507,026 (GRCm38) missense probably damaging 1.00
R7792:Rims2 UTSW 15 39,198,528 (GRCm38) missense possibly damaging 0.69
R7836:Rims2 UTSW 15 39,681,079 (GRCm38) missense probably damaging 1.00
R8082:Rims2 UTSW 15 39,476,523 (GRCm38) missense probably benign 0.34
R8489:Rims2 UTSW 15 39,616,450 (GRCm38) missense probably damaging 1.00
R8730:Rims2 UTSW 15 39,517,843 (GRCm38) missense probably benign 0.01
R8830:Rims2 UTSW 15 39,437,362 (GRCm38) missense possibly damaging 0.64
R8857:Rims2 UTSW 15 39,679,648 (GRCm38) missense possibly damaging 0.95
R8893:Rims2 UTSW 15 39,534,954 (GRCm38) missense probably benign 0.02
R9010:Rims2 UTSW 15 39,452,390 (GRCm38) nonsense probably null
R9030:Rims2 UTSW 15 39,476,477 (GRCm38) missense probably damaging 1.00
R9287:Rims2 UTSW 15 39,679,690 (GRCm38) missense probably damaging 1.00
R9395:Rims2 UTSW 15 39,292,269 (GRCm38) missense probably damaging 1.00
R9451:Rims2 UTSW 15 39,437,328 (GRCm38) missense probably damaging 1.00
R9506:Rims2 UTSW 15 39,472,436 (GRCm38) missense probably damaging 0.97
X0034:Rims2 UTSW 15 39,437,534 (GRCm38) missense probably benign
Z1177:Rims2 UTSW 15 39,681,114 (GRCm38) missense probably damaging 1.00
Z1177:Rims2 UTSW 15 39,478,690 (GRCm38) frame shift probably null
Z1177:Rims2 UTSW 15 39,437,769 (GRCm38) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CACAGATGGGCCAATGTTTTC -3'
(R):5'- CTGTAGAATTTAATATCACTGGGCC -3'

Sequencing Primer
(F):5'- ACAGATGGGCCAATGTTTTCTTCTAG -3'
(R):5'- CACTGGGCCATTACATTATATGTTTG -3'
Posted On 2018-08-01