Incidental Mutation 'R1453:Stim2'
ID 161596
Institutional Source Beutler Lab
Gene Symbol Stim2
Ensembl Gene ENSMUSG00000039156
Gene Name stromal interaction molecule 2
Synonyms
MMRRC Submission 039508-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1453 (G1)
Quality Score 206
Status Not validated
Chromosome 5
Chromosomal Location 54155865-54278399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54273451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 568 (D568E)
Ref Sequence ENSEMBL: ENSMUSP00000143855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117661] [ENSMUST00000201469]
AlphaFold P83093
Predicted Effect probably damaging
Transcript: ENSMUST00000071083
AA Change: D568E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069272
Gene: ENSMUSG00000039156
AA Change: D568E

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 probably damaging
Transcript: ENSMUST00000117661
AA Change: D560E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113174
Gene: ENSMUSG00000039156
AA Change: D560E

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: D197E
Predicted Effect probably damaging
Transcript: ENSMUST00000201469
AA Change: D568E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143855
Gene: ENSMUSG00000039156
AA Change: D568E

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,862,763 (GRCm39) I240M probably benign Het
Abcd3 A T 3: 121,558,710 (GRCm39) D595E probably damaging Het
Akap9 A G 5: 4,025,614 (GRCm39) probably null Het
Arpc1b A G 5: 145,062,555 (GRCm39) D223G probably damaging Het
Atp6ap1l T A 13: 91,046,866 (GRCm39) T104S probably benign Het
BC005537 T C 13: 24,989,969 (GRCm39) probably null Het
Ccdc9b T C 2: 118,587,903 (GRCm39) D477G possibly damaging Het
Chrdl2 T C 7: 99,666,197 (GRCm39) V39A possibly damaging Het
Clmp C G 9: 40,693,737 (GRCm39) S318W probably damaging Het
Cmas T C 6: 142,717,853 (GRCm39) S323P probably damaging Het
Cnksr3 T C 10: 7,079,132 (GRCm39) T80A probably benign Het
Ddx25 T C 9: 35,453,298 (GRCm39) Y484C probably damaging Het
Dennd6b A G 15: 89,073,075 (GRCm39) V154A probably damaging Het
Dmxl1 G A 18: 49,990,316 (GRCm39) V252I probably benign Het
Dnah2 T C 11: 69,341,876 (GRCm39) Y3003C probably damaging Het
Dnhd1 T C 7: 105,370,480 (GRCm39) probably null Het
Dppa4 G A 16: 48,111,596 (GRCm39) A194T probably damaging Het
Dst T C 1: 34,228,527 (GRCm39) V2218A possibly damaging Het
Dytn G C 1: 63,673,032 (GRCm39) S457C probably damaging Het
Fndc3a G A 14: 72,777,768 (GRCm39) Q1101* probably null Het
Focad A T 4: 88,275,679 (GRCm39) probably null Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gm5093 A G 17: 46,750,622 (GRCm39) F135S probably benign Het
Gmeb1 A T 4: 131,969,759 (GRCm39) D71E possibly damaging Het
Heatr5b G A 17: 79,124,992 (GRCm39) R587C probably damaging Het
Jakmip2 T C 18: 43,692,279 (GRCm39) probably null Het
Mier3 T A 13: 111,841,778 (GRCm39) L111Q probably damaging Het
Mrgprg G A 7: 143,318,779 (GRCm39) S111F possibly damaging Het
Mybl1 T C 1: 9,741,901 (GRCm39) K677R probably benign Het
Nhsl1 T C 10: 18,407,323 (GRCm39) S1486P probably damaging Het
Nup133 A G 8: 124,642,114 (GRCm39) I783T probably benign Het
Or10d4c A T 9: 39,558,459 (GRCm39) T146S probably benign Het
Or5an1c A T 19: 12,218,956 (GRCm39) I23K probably benign Het
Pigr A T 1: 130,769,281 (GRCm39) I31L probably benign Het
Plaat5 A G 19: 7,616,999 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel6 T A 2: 87,338,917 (GRCm39) M39K possibly damaging Het
Rapgef6 T A 11: 54,530,553 (GRCm39) probably null Het
Rinl T C 7: 28,496,329 (GRCm39) C437R probably damaging Het
Shank1 T C 7: 43,965,499 (GRCm39) S192P unknown Het
Slc2a10 A T 2: 165,359,570 (GRCm39) Y478F probably damaging Het
Slc37a3 A T 6: 39,343,877 (GRCm39) L12H probably damaging Het
Slit2 T A 5: 48,414,393 (GRCm39) C970S possibly damaging Het
Stard9 T C 2: 120,496,857 (GRCm39) S119P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf3 A G 12: 111,221,757 (GRCm39) E306G probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll6 T C 11: 96,049,714 (GRCm39) S811P possibly damaging Het
Ubr7 A G 12: 102,735,437 (GRCm39) K299E probably benign Het
Urb1 C A 16: 90,593,380 (GRCm39) V251L probably damaging Het
Vps13b G T 15: 35,422,590 (GRCm39) E183D probably damaging Het
Zfp35 T G 18: 24,136,557 (GRCm39) Y300* probably null Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp938 C T 10: 82,063,632 (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
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
Predicted Primers PCR Primer
(F):5'- GCAGTAGTTTATGCCGCTCTCGTC -3'
(R):5'- CATTTTCTTAAGCCCTGGGCAAACG -3'

Sequencing Primer
(F):5'- TCTCGTCGCAGCATCGTG -3'
(R):5'- agaaactgaaaacaaaccgacc -3'
Posted On 2014-03-14