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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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