Incidental Mutation 'R6893:Stim2'
| ID |
538152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stim2
|
| Ensembl Gene |
ENSMUSG00000039156 |
| Gene Name |
stromal interaction molecule 2 |
| Synonyms |
|
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
54155865-54278399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54210787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 74
(T74I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117661]
[ENSMUST00000201469]
|
| AlphaFold |
P83093 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117661
AA Change: T74I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: T74I
| 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: T74I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: T74I
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
probably benign |
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 |
|
R6689:Stim2
|
UTSW |
5 |
54,273,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTGGTAAGACAAAAGTTCTTGGTC -3'
(R):5'- TTCCACAACTACCAATCTGTGAAG -3'
Sequencing Primer
(F):5'- AGACAAAAGTTCTTGGTCTTGTTCTG -3'
(R):5'- TGAAGTCACAATTACTATGGAAAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation