Incidental Mutation 'IGL02643:Stim2'
| ID |
301823 |
| 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 # |
IGL02643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
54155865-54278399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54267955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 417
(V417A)
|
| 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: V409A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: V409A
| 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 |
not run
Transcript: ENSMUST00000152812
AA Change: V92A
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201469
AA Change: V417A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: V417A
| 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 |
|
| Meta Mutation Damage Score |
0.6495 |
| 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 |
|---|
| Acad10 |
T |
G |
5: 121,769,633 (GRCm39) |
M608L |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
| Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
| Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
| Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
| Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Micu1 |
A |
G |
10: 59,675,558 (GRCm39) |
D380G |
probably damaging |
Het |
| Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
| Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
| Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
| Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
| Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
| Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
| Samd8 |
T |
A |
14: 21,843,212 (GRCm39) |
M447K |
probably damaging |
Het |
| Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,497 (GRCm39) |
V521M |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
| Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
A |
T |
7: 139,576,067 (GRCm39) |
N865K |
probably damaging |
Het |
| Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
| Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
| Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
probably 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 |
|
IGL02276:Stim2
|
APN |
5 |
54,210,712 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation