Incidental Mutation 'R9010:Rims2'
ID 685595
Institutional Source Beutler Lab
Gene Symbol Rims2
Ensembl Gene ENSMUSG00000037386
Gene Name regulating synaptic membrane exocytosis 2
Synonyms RIM2, 2810036I15Rik, Syt3-rs
MMRRC Submission 068840-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R9010 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 39061681-39547768 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 39315786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 597 (C597*)
Ref Sequence ENSEMBL: ENSMUSP00000048719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243] [ENSMUST00000228839]
AlphaFold Q9EQZ7
Predicted Effect probably null
Transcript: ENSMUST00000042917
AA Change: C597*
SMART Domains Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: C597*

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 null
Transcript: ENSMUST00000082054
AA Change: C637*
SMART Domains Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: C637*

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 null
Transcript: ENSMUST00000227243
AA Change: C597*
Predicted Effect probably benign
Transcript: ENSMUST00000227381
Predicted Effect probably benign
Transcript: ENSMUST00000228839
Meta Mutation Damage Score 0.9631 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,119,504 (GRCm39) M87K possibly damaging Het
Angel1 T C 12: 86,770,153 (GRCm39) S36G possibly damaging Het
Apol6 A G 15: 76,935,697 (GRCm39) H322R unknown Het
Arfgef2 G A 2: 166,701,284 (GRCm39) R694Q probably damaging Het
Bank1 A T 3: 135,761,559 (GRCm39) N748K probably benign Het
Bptf A T 11: 106,964,576 (GRCm39) D1539E probably damaging Het
Bst1 T C 5: 43,982,695 (GRCm39) I180T possibly damaging Het
Cabin1 C A 10: 75,570,892 (GRCm39) E795* probably null Het
Ccdc168 A G 1: 44,100,633 (GRCm39) V155A possibly damaging Het
Cckar T A 5: 53,857,163 (GRCm39) T416S probably damaging Het
Ccng2 G T 5: 93,416,616 (GRCm39) E46* probably null Het
Ceacam9 T C 7: 16,455,916 (GRCm39) S8P probably benign Het
Cercam G A 2: 29,766,071 (GRCm39) D317N possibly damaging Het
Cfap54 T A 10: 92,734,921 (GRCm39) M2377L unknown Het
Cgnl1 A T 9: 71,558,631 (GRCm39) L914H probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clec2g T A 6: 128,925,688 (GRCm39) F32L unknown Het
Cntnap5c A T 17: 58,671,159 (GRCm39) M1116L probably benign Het
Col11a2 C A 17: 34,283,760 (GRCm39) F1516L unknown Het
Crb2 A G 2: 37,680,698 (GRCm39) E542G probably benign Het
Crisp1 A T 17: 40,616,101 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,702 (GRCm39) T470M probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Entpd3 T C 9: 120,384,825 (GRCm39) I134T probably benign Het
Garre1 A T 7: 33,938,491 (GRCm39) C1015S probably benign Het
Gm19410 A G 8: 36,282,011 (GRCm39) M1865V probably benign Het
Gpat2 A G 2: 127,277,146 (GRCm39) E728G probably benign Het
Heatr5b C A 17: 79,081,139 (GRCm39) S1371I probably damaging Het
Ighv1-4 A T 12: 114,450,949 (GRCm39) M53K possibly damaging Het
Itch A T 2: 155,020,991 (GRCm39) T169S probably benign Het
Kifc2 A G 15: 76,550,885 (GRCm39) N587S possibly damaging Het
Klk1b16 A T 7: 43,790,177 (GRCm39) D149V probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lefty2 T A 1: 180,722,172 (GRCm39) I170N probably damaging Het
Lrrc14b A G 13: 74,509,151 (GRCm39) F419L possibly damaging Het
Mkrn2 T A 6: 115,591,583 (GRCm39) V302E possibly damaging Het
Msh4 T C 3: 153,595,819 (GRCm39) K271R probably benign Het
Muc6 T C 7: 141,226,351 (GRCm39) T1559A unknown Het
Naa16 T G 14: 79,607,482 (GRCm39) R289S probably benign Het
Nab1 T A 1: 52,529,610 (GRCm39) I96F possibly damaging Het
Ntn4 T C 10: 93,480,506 (GRCm39) C77R Het
Nusap1 A G 2: 119,479,456 (GRCm39) T424A possibly damaging Het
Or1p1 G T 11: 74,180,305 (GRCm39) V278F probably damaging Het
Or2w6 A G 13: 21,842,681 (GRCm39) Y271H probably damaging Het
Or4e2 T A 14: 52,688,556 (GRCm39) S229T possibly damaging Het
Otog A G 7: 45,949,894 (GRCm39) D267G probably benign Het
P2ry2 A C 7: 100,647,358 (GRCm39) F316V probably benign Het
Padi2 A G 4: 140,663,924 (GRCm39) T426A probably damaging Het
Pakap A T 4: 57,883,192 (GRCm39) D845V probably damaging Het
Plxna2 T C 1: 194,471,217 (GRCm39) F996S possibly damaging Het
Ppp4r3a T C 12: 101,024,591 (GRCm39) M303V possibly damaging Het
Prelid2 A T 18: 42,065,781 (GRCm39) W85R probably damaging Het
Rabep1 G A 11: 70,810,034 (GRCm39) R532H probably damaging Het
Rabgap1l G A 1: 160,528,443 (GRCm39) R388W possibly damaging Het
Rad51ap2 G T 12: 11,508,675 (GRCm39) V866L probably benign Het
Rassf3 C A 10: 121,311,991 (GRCm39) E9* probably null Het
Rbbp4 A C 4: 129,216,180 (GRCm39) L189R probably benign Het
Rrp12 T A 19: 41,871,929 (GRCm39) I452F probably benign Het
Snx29 G A 16: 11,449,391 (GRCm39) A279T probably benign Het
Tdh C T 14: 63,737,704 (GRCm39) S17N probably benign Het
Tgm5 T C 2: 120,879,371 (GRCm39) D555G possibly damaging Het
Thbs1 A C 2: 117,953,045 (GRCm39) D885A probably damaging Het
Tmprss9 C A 10: 80,733,701 (GRCm39) A921E unknown Het
Trrap T A 5: 144,783,226 (GRCm39) F3340I probably damaging Het
Vmn1r72 A T 7: 11,404,145 (GRCm39) M101K possibly damaging Het
Vmn2r117 A G 17: 23,679,445 (GRCm39) L593P probably benign Het
Washc2 G A 6: 116,198,823 (GRCm39) G295E probably damaging Het
Zfp273 A T 13: 67,974,177 (GRCm39) H435L probably damaging Het
Zfp395 A G 14: 65,623,948 (GRCm39) E139G possibly damaging Het
Zfp512b G A 2: 181,230,011 (GRCm39) A552V 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
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
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'- TCACACTTGTAGGGGACAGTC -3'
(R):5'- GGGTGTGCTGTCTATTAACAAG -3'

Sequencing Primer
(F):5'- TCACACTTGTAGGGGACAGTCAAAAG -3'
(R):5'- GGTGTGCTGTCTATTAACAAGAACAG -3'
Posted On 2021-10-11