Incidental Mutation 'IGL02276:Stim2'
ID |
287351 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stim2
|
Ensembl Gene |
ENSMUSG00000039156 |
Gene Name |
stromal interaction molecule 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02276
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
54155865-54278399 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 54210712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117661]
[ENSMUST00000201469]
|
AlphaFold |
P83093 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117661
|
SMART Domains |
Protein: ENSMUSP00000113174 Gene: ENSMUSG00000039156
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
SAM
|
133 |
204 |
1.74e-3 |
SMART |
PDB:4O9B|D
|
241 |
344 |
2e-36 |
PDB |
PDB:3TEQ|D
|
348 |
448 |
2e-38 |
PDB |
low complexity region
|
505 |
518 |
N/A |
INTRINSIC |
low complexity region
|
527 |
557 |
N/A |
INTRINSIC |
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
low complexity region
|
730 |
746 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201469
|
SMART Domains |
Protein: ENSMUSP00000143855 Gene: ENSMUSG00000039156
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
SAM
|
133 |
204 |
1.74e-3 |
SMART |
PDB:4O9B|D
|
241 |
344 |
2e-36 |
PDB |
Pfam:SOAR
|
345 |
453 |
1.7e-42 |
PFAM |
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
low complexity region
|
535 |
565 |
N/A |
INTRINSIC |
low complexity region
|
610 |
621 |
N/A |
INTRINSIC |
low complexity region
|
738 |
754 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009] PHENOTYPE: Mice homozygous for a null allele exhibit a slight growth delay and premature death while embryonic fibroblasts show reduced store-operated Ca2+ influx. Mice homozygous for a different null allele show increased neuron survival under hypoxic conditions and resistance to ischemic brain injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
Other mutations in Stim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Stim2
|
APN |
5 |
54,210,835 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02643:Stim2
|
APN |
5 |
54,267,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0368:Stim2
|
UTSW |
5 |
54,267,482 (GRCm39) |
critical splice donor site |
probably null |
|
R0825:Stim2
|
UTSW |
5 |
54,275,825 (GRCm39) |
missense |
probably benign |
0.22 |
R1453:Stim2
|
UTSW |
5 |
54,273,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R1549:Stim2
|
UTSW |
5 |
54,262,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Stim2
|
UTSW |
5 |
54,262,591 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2114:Stim2
|
UTSW |
5 |
54,261,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:Stim2
|
UTSW |
5 |
54,262,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2159:Stim2
|
UTSW |
5 |
54,267,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R4467:Stim2
|
UTSW |
5 |
54,273,536 (GRCm39) |
critical splice donor site |
probably null |
|
R4809:Stim2
|
UTSW |
5 |
54,267,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Stim2
|
UTSW |
5 |
54,275,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Stim2
|
UTSW |
5 |
54,262,712 (GRCm39) |
missense |
probably benign |
|
R5125:Stim2
|
UTSW |
5 |
54,267,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Stim2
|
UTSW |
5 |
54,268,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5441:Stim2
|
UTSW |
5 |
54,232,712 (GRCm39) |
nonsense |
probably null |
|
R5617:Stim2
|
UTSW |
5 |
54,267,075 (GRCm39) |
missense |
probably damaging |
0.99 |
R5924:Stim2
|
UTSW |
5 |
54,259,985 (GRCm39) |
missense |
probably benign |
0.01 |
R6169:Stim2
|
UTSW |
5 |
54,276,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6689:Stim2
|
UTSW |
5 |
54,273,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6893:Stim2
|
UTSW |
5 |
54,210,787 (GRCm39) |
missense |
probably benign |
0.13 |
R6971:Stim2
|
UTSW |
5 |
54,275,641 (GRCm39) |
nonsense |
probably null |
|
R7133:Stim2
|
UTSW |
5 |
54,156,263 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7189:Stim2
|
UTSW |
5 |
54,273,470 (GRCm39) |
missense |
probably benign |
0.08 |
R7947:Stim2
|
UTSW |
5 |
54,275,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R8806:Stim2
|
UTSW |
5 |
54,156,257 (GRCm39) |
missense |
probably benign |
|
R8939:Stim2
|
UTSW |
5 |
54,262,673 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9567:Stim2
|
UTSW |
5 |
54,232,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |