Incidental Mutation 'R6519:Sigmar1'
ID 520959
Institutional Source Beutler Lab
Gene Symbol Sigmar1
Ensembl Gene ENSMUSG00000036078
Gene Name sigma non-opioid intracellular receptor 1
Synonyms Oprs1, mSigmaR1, Sig1R
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41738493-41741359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41739380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000071492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059354] [ENSMUST00000071561] [ENSMUST00000108041]
AlphaFold O55242
Predicted Effect probably benign
Transcript: ENSMUST00000059354
AA Change: T216A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000056027
Gene: ENSMUSG00000036078
AA Change: T216A

DomainStartEndE-ValueType
Pfam:ERG2_Sigma1R 11 217 7.6e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071561
AA Change: T185A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071492
Gene: ENSMUSG00000036078
AA Change: T185A

DomainStartEndE-ValueType
Pfam:ERG2_Sigma1R 7 121 9.2e-46 PFAM
Pfam:ERG2_Sigma1R 117 188 1.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108041
SMART Domains Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148223
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein located in the endoplasmic reticulum. The encoded protein is a receptor that binds several endogenous ligands, including N,N-dimethyltryptamine, progesterone and pregnenolone and a variety of of non-opiate compounds. The encoded protein plays a role in regulating the activity of ion channels, acting as a chaperone and protecting cells from oxidative stress. In humans, this receptor has been associated with Alzheimer's and Parkinson's diseases, stroke and numerous disease conditions such as depression, pain and addiction. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal motor coordination and increased depressive-like behavior. Mice homozygous for a knock-out allele exhibit reduced sponataneous activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null Het
Other mutations in Sigmar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0390:Sigmar1 UTSW 4 41,741,243 (GRCm39) missense probably benign 0.00
R1538:Sigmar1 UTSW 4 41,740,845 (GRCm39) missense probably benign 0.00
R4680:Sigmar1 UTSW 4 41,741,251 (GRCm39) start codon destroyed probably null 0.05
R5942:Sigmar1 UTSW 4 41,741,159 (GRCm39) missense probably benign 0.00
R8845:Sigmar1 UTSW 4 41,741,234 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTGTGTCTGGATGTACAAG -3'
(R):5'- CCCAGGAGAGACAGTTGTACAC -3'

Sequencing Primer
(F):5'- GGATGTACAAGTATGTATGTCCTTCC -3'
(R):5'- AGACAGTTGTACACGGGCCTG -3'
Posted On 2018-06-06