Incidental Mutation 'R6753:Rims2'
ID 530922
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # R6753 (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 39430369 bp (GRCm39)
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: 119,900,977 (GRCm39) P1083S probably benign Het
Abcb5 T A 12: 118,908,641 (GRCm39) N101I possibly damaging Het
Adrb2 A G 18: 62,312,624 (GRCm39) V67A possibly damaging Het
Agk T A 6: 40,345,504 (GRCm39) probably null Het
Akap10 A T 11: 61,777,603 (GRCm39) M586K probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Armc1 A G 3: 19,198,562 (GRCm39) F133L possibly damaging Het
Bank1 T C 3: 135,799,069 (GRCm39) E424G probably damaging Het
Cacna1a A G 8: 85,306,834 (GRCm39) E1363G probably damaging Het
Cacna1d C A 14: 29,764,743 (GRCm39) A2076S probably damaging Het
Ccdc73 T A 2: 104,821,869 (GRCm39) L606* probably null Het
Ccdc8 C T 7: 16,730,562 (GRCm39) Q684* probably null Het
Ces1b T A 8: 93,793,648 (GRCm39) K314* probably null Het
Ces1e T A 8: 93,941,756 (GRCm39) N238I probably damaging Het
Chd4 A G 6: 125,091,263 (GRCm39) N1238S probably benign Het
Cmtr2 T A 8: 110,949,611 (GRCm39) D640E probably damaging Het
Col7a1 C T 9: 108,787,196 (GRCm39) T559I unknown Het
Comt T C 16: 18,226,771 (GRCm39) K205R probably benign Het
Dbp A T 7: 45,357,828 (GRCm39) E232V probably damaging Het
Dcbld2 A G 16: 58,276,493 (GRCm39) T470A possibly damaging Het
Eml6 T A 11: 29,704,987 (GRCm39) D1519V probably damaging Het
Evpl T A 11: 116,128,732 (GRCm39) H31L possibly damaging Het
Exoc1 T A 5: 76,711,186 (GRCm39) I86N probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fgfr3 T C 5: 33,889,503 (GRCm39) S301P probably benign Het
Gas2l1 C T 11: 5,014,254 (GRCm39) V69I probably damaging Het
Gm2042 T A 12: 87,924,854 (GRCm39) I107K probably damaging Het
Gucy1b1 T C 3: 81,947,054 (GRCm39) D385G probably null Het
Ints1 T A 5: 139,750,930 (GRCm39) E824D probably damaging Het
Itfg1 T C 8: 86,561,707 (GRCm39) D142G probably benign Het
Jaml A G 9: 45,018,677 (GRCm39) N359D probably benign Het
Kcnh7 T A 2: 62,680,721 (GRCm39) I289L probably benign Het
Klf12 G A 14: 100,347,212 (GRCm39) Q40* probably null Het
Mcm4 A C 16: 15,447,226 (GRCm39) N579K possibly damaging Het
Mfsd2b A T 12: 4,917,358 (GRCm39) F179I possibly damaging Het
Mmp11 C T 10: 75,764,208 (GRCm39) V86M probably damaging Het
Mogs T C 6: 83,092,863 (GRCm39) V101A probably damaging Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Or5ak4 C A 2: 85,162,142 (GRCm39) M33I probably benign Het
Otog A C 7: 45,898,495 (GRCm39) E204D probably benign Het
Parp8 G A 13: 117,031,651 (GRCm39) H354Y possibly damaging Het
Pcnx1 C A 12: 82,011,254 (GRCm39) D1238E probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pkd1l3 C T 8: 110,351,081 (GRCm39) T642I probably damaging Het
Pkhd1l1 G A 15: 44,453,059 (GRCm39) E3995K probably benign Het
Prdm9 A T 17: 15,765,218 (GRCm39) Y521N probably benign Het
Prex2 A G 1: 11,254,680 (GRCm39) S1105G probably damaging Het
Prss35 T A 9: 86,638,153 (GRCm39) F308I probably damaging Het
Rab22a C T 2: 173,542,848 (GRCm39) A167V probably benign Het
Rorb A T 19: 18,934,611 (GRCm39) M253K probably benign Het
Ryr3 T C 2: 112,482,955 (GRCm39) D4269G probably damaging Het
Snx11 T C 11: 96,660,732 (GRCm39) probably benign Het
Son A G 16: 91,454,076 (GRCm39) Q941R probably damaging Het
Sptbn2 G T 19: 4,797,813 (GRCm39) R1880L probably benign Het
Sun1 G A 5: 139,201,014 (GRCm39) probably null Het
Tprn A G 2: 25,154,050 (GRCm39) R451G probably benign Het
Trbv30 T A 6: 41,258,311 (GRCm39) M1K probably null Het
Ttn C A 2: 76,568,565 (GRCm39) G25697W probably damaging Het
Ubb T G 11: 62,442,353 (GRCm39) probably null Het
Unc13b C T 4: 43,239,331 (GRCm39) R1038C probably damaging Het
Usp7 T C 16: 8,514,775 (GRCm39) M687V probably benign Het
Zfp160 G A 17: 21,240,996 (GRCm39) M21I probably benign Het
Zfp868 T C 8: 70,064,747 (GRCm39) N196S probably benign Het
Zup1 A T 10: 33,804,025 (GRCm39) I483N 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
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
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'- CACAGATGGGCCAATGTTTTC -3'
(R):5'- CTGTAGAATTTAATATCACTGGGCC -3'

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