Incidental Mutation 'R6689:Stim2'
ID |
527885 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stim2
|
Ensembl Gene |
ENSMUSG00000039156 |
Gene Name |
stromal interaction molecule 2 |
Synonyms |
|
MMRRC Submission |
044807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6689 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
54155865-54278399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 54273318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 524
(R524H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117661]
[ENSMUST00000201469]
|
AlphaFold |
P83093 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117661
AA Change: R516H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113174 Gene: ENSMUSG00000039156 AA Change: R516H
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 |
unknown
Transcript: ENSMUST00000201198
AA Change: R153H
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201469
AA Change: R524H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143855 Gene: ENSMUSG00000039156 AA Change: R524H
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 |
noncoding transcript
Transcript: ENSMUST00000202342
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
A |
9: 49,331,776 (GRCm39) |
I173F |
probably damaging |
Het |
Aurka |
A |
G |
2: 172,212,313 (GRCm39) |
|
probably null |
Het |
B4galnt4 |
C |
T |
7: 140,647,897 (GRCm39) |
T471I |
probably benign |
Het |
Ccn1 |
T |
A |
3: 145,353,543 (GRCm39) |
M340L |
probably benign |
Het |
Commd6 |
C |
A |
14: 101,877,895 (GRCm39) |
|
probably benign |
Het |
Elobl |
T |
C |
11: 88,855,919 (GRCm39) |
N48S |
possibly damaging |
Het |
Grem1 |
T |
C |
2: 113,580,276 (GRCm39) |
E75G |
probably benign |
Het |
Hp |
C |
T |
8: 110,302,352 (GRCm39) |
V199I |
probably benign |
Het |
Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
Lgr5 |
T |
A |
10: 115,302,513 (GRCm39) |
I293F |
probably damaging |
Het |
Lmln |
A |
G |
16: 32,925,152 (GRCm39) |
R462G |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Mroh4 |
A |
G |
15: 74,483,852 (GRCm39) |
V495A |
probably damaging |
Het |
Or10c1 |
C |
G |
17: 37,522,048 (GRCm39) |
G232A |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,808,498 (GRCm39) |
I214T |
probably benign |
Het |
Spmip4 |
A |
G |
6: 50,566,089 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATTGGTTGTAGAGAAGGGC -3'
(R):5'- GAAGTAGATAGCCTCCTCCTCCTC -3'
Sequencing Primer
(F):5'- CCATTGGTTGTAGAGAAGGGCATTTG -3'
(R):5'- TCTTCGTTCCGATACAGAGCAGG -3'
|
Posted On |
2018-07-23 |