Incidental Mutation 'IGL00743:Stim2'
| ID |
14266 |
| 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 # |
IGL00743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
54155865-54278399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54210835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117661]
[ENSMUST00000201469]
|
| AlphaFold |
P83093 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071083
AA Change: D90G
PolyPhen 2
Score 0.030 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069272
Gene: ENSMUSG00000039156
AA Change: D90G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117661
AA Change: D90G
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: D90G
| 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
AA Change: D90G
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: D90G
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
| Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
| Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
| Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
| Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
| Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
| Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
| Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
| Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
probably damaging |
Het |
|
| Other mutations in Stim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02276:Stim2
|
APN |
5 |
54,210,712 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation