Incidental Mutation 'IGL03102:Rims2'
ID |
418769 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rims2
|
Ensembl Gene |
ENSMUSG00000037386 |
Gene Name |
regulating synaptic membrane exocytosis 2 |
Synonyms |
RIM2, 2810036I15Rik, Syt3-rs |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.661)
|
Stock # |
IGL03102
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39061681-39547768 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39322989 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9EQZ7 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly damaging |
Het |
|
Other mutations in Rims2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2016-08-02 |