Incidental Mutation 'R4680:Sigmar1'
ID 349977
Institutional Source Beutler Lab
Gene Symbol Sigmar1
Ensembl Gene ENSMUSG00000036078
Gene Name sigma non-opioid intracellular receptor 1
Synonyms Oprs1, mSigmaR1, Sig1R
MMRRC Submission 041933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4680 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41738493-41741359 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 41741251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000071492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059354] [ENSMUST00000071561] [ENSMUST00000108041]
AlphaFold O55242
Predicted Effect probably null
Transcript: ENSMUST00000059354
AA Change: M1T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056027
Gene: ENSMUSG00000036078
AA Change: M1T

DomainStartEndE-ValueType
Pfam:ERG2_Sigma1R 11 217 7.6e-69 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071561
AA Change: M1T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071492
Gene: ENSMUSG00000036078
AA Change: M1T

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: ENSMUST00000148223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149647
Meta Mutation Damage Score 0.9039 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,315,390 (GRCm39) L96Q probably damaging Het
4931414P19Rik T C 14: 54,822,533 (GRCm39) Y368C probably damaging Het
Acin1 T C 14: 54,924,215 (GRCm39) N8S probably benign Het
Aspm T C 1: 139,408,409 (GRCm39) V2432A probably benign Het
Atf2 A T 2: 73,659,025 (GRCm39) probably null Het
B3gnt2 A G 11: 22,787,105 (GRCm39) S28P probably damaging Het
Chil5 A G 3: 105,942,191 (GRCm39) probably benign Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dennd3 A T 15: 73,405,225 (GRCm39) H326L possibly damaging Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eprs1 T C 1: 185,118,475 (GRCm39) V461A possibly damaging Het
Fhad1 G A 4: 141,738,858 (GRCm39) Q31* probably null Het
Gpr26 A G 7: 131,576,082 (GRCm39) T249A probably benign Het
Gtf2ird1 T A 5: 134,386,735 (GRCm39) M958L probably damaging Het
Kat2b-ps A G 5: 93,539,299 (GRCm39) noncoding transcript Het
Kdm2b A T 5: 123,072,849 (GRCm39) V343E probably damaging Het
Lipi A G 16: 75,362,417 (GRCm39) probably null Het
Ltb4r1 T C 14: 56,004,925 (GRCm39) F76S probably damaging Het
Msantd2 A G 9: 37,434,387 (GRCm39) Y209C probably damaging Het
Nid1 G A 13: 13,647,437 (GRCm39) C401Y probably damaging Het
Obox1 A T 7: 15,290,089 (GRCm39) N144I probably damaging Het
Or14j7 T C 17: 38,234,813 (GRCm39) S119P probably damaging Het
Or8h9 T C 2: 86,789,665 (GRCm39) I46V possibly damaging Het
Or8k20 T A 2: 86,106,517 (GRCm39) I105F possibly damaging Het
Plec T C 15: 76,064,775 (GRCm39) E1630G unknown Het
Ppp2r5e C T 12: 75,516,533 (GRCm39) R218Q probably damaging Het
Prkdc A G 16: 15,589,894 (GRCm39) T2586A probably benign Het
Ptprj T C 2: 90,290,840 (GRCm39) N633S probably benign Het
Rab11fip2 T C 19: 59,924,452 (GRCm39) N284S probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Ropn1 A G 16: 34,497,675 (GRCm39) Q189R possibly damaging Het
Rwdd2b A G 16: 87,233,950 (GRCm39) probably null Het
Ryr2 A T 13: 11,610,119 (GRCm39) S4236T probably benign Het
Sncg T A 14: 34,095,268 (GRCm39) N79I probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn C T 2: 76,763,021 (GRCm39) G3213S probably damaging Het
Uqcrc1 G A 9: 108,776,929 (GRCm39) R77H probably damaging Het
Vps13d A C 4: 144,835,080 (GRCm39) L2756R possibly damaging 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
R5942:Sigmar1 UTSW 4 41,741,159 (GRCm39) missense probably benign 0.00
R6519:Sigmar1 UTSW 4 41,739,380 (GRCm39) missense possibly damaging 0.91
R8845:Sigmar1 UTSW 4 41,741,234 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCAAGCTCATGGTCCAG -3'
(R):5'- AATGGTTCAATCCAGAGGCG -3'

Sequencing Primer
(F):5'- CCAGCCCTGGTGCAAAAAGG -3'
(R):5'- TTCAATCCAGAGGCGGTGCTAG -3'
Posted On 2015-10-08