Incidental Mutation 'R0378:Artn'
ID 36458
Institutional Source Beutler Lab
Gene Symbol Artn
Ensembl Gene ENSMUSG00000028539
Gene Name artemin
Synonyms neublastin
MMRRC Submission 038584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R0378 (G1)
Quality Score 200
Status Validated
Chromosome 4
Chromosomal Location 117783359-117786960 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 117784815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030263] [ENSMUST00000070816] [ENSMUST00000097912] [ENSMUST00000097913] [ENSMUST00000106410]
AlphaFold Q9Z0L2
Predicted Effect probably benign
Transcript: ENSMUST00000030263
SMART Domains Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 102 373 5.7e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070816
SMART Domains Protein: ENSMUSP00000064521
Gene: ENSMUSG00000028539

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 81 126 N/A INTRINSIC
TGFB 127 223 3.71e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097912
SMART Domains Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 86 357 5.4e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097913
SMART Domains Protein: ENSMUSP00000095526
Gene: ENSMUSG00000028539

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 81 126 N/A INTRINSIC
TGFB 127 223 3.71e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106410
SMART Domains Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 106 372 4.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150612
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Mice lacking a functional copy of this gene exhibit ptosis and impaired development of the sympathetic nervous system. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display ptosis and poor development of the sympathetic chain ganglia and associated nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,469,749 (GRCm39) R651L probably damaging Het
Amd1 T C 10: 40,165,380 (GRCm39) D317G possibly damaging Het
Bub1b T A 2: 118,471,604 (GRCm39) V988E probably benign Het
Cyp2c65 G T 19: 39,061,662 (GRCm39) C216F probably benign Het
Cyp3a11 T C 5: 145,805,417 (GRCm39) E200G probably benign Het
Cyp3a25 T A 5: 145,923,652 (GRCm39) K330N probably damaging Het
Duox2 C A 2: 122,115,064 (GRCm39) V1138L probably benign Het
Erc2 A G 14: 27,733,651 (GRCm39) D567G probably damaging Het
Eri2 A G 7: 119,393,139 (GRCm39) probably null Het
Foxa3 A G 7: 18,757,294 (GRCm39) Y17H probably damaging Het
Fto T C 8: 92,200,940 (GRCm39) S324P probably damaging Het
Get3 A T 8: 85,751,893 (GRCm39) M1K probably null Het
Gls2 T G 10: 128,043,180 (GRCm39) L457R probably benign Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Gtf3c1 G A 7: 125,246,786 (GRCm39) R1508* probably null Het
Kif21a T C 15: 90,853,977 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lgr5 T C 10: 115,290,404 (GRCm39) D456G probably damaging Het
Mau2 A G 8: 70,483,305 (GRCm39) S186P probably damaging Het
Msr1 T C 8: 40,042,423 (GRCm39) D384G possibly damaging Het
Ncf4 T C 15: 78,137,503 (GRCm39) V93A probably damaging Het
Oas1f T G 5: 120,994,489 (GRCm39) C337G probably damaging Het
Or10al3 A G 17: 38,011,932 (GRCm39) M124V probably damaging Het
Or5p58 A T 7: 107,694,429 (GRCm39) F116Y probably benign Het
Or6c33 T A 10: 129,853,872 (GRCm39) L214H probably damaging Het
Pwwp3a C A 10: 80,074,713 (GRCm39) probably null Het
Rasl10b T C 11: 83,309,519 (GRCm39) S159P probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smg8 C A 11: 86,971,249 (GRCm39) D841Y probably damaging Het
Sox7 T C 14: 64,181,398 (GRCm39) V65A probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Srsf10 A G 4: 135,590,501 (GRCm39) Y142C possibly damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcerg1l A G 7: 137,878,384 (GRCm39) V326A probably benign Het
Tcl1b5 T A 12: 105,145,326 (GRCm39) W97R probably damaging Het
Tmem108 T C 9: 103,376,856 (GRCm39) R198G possibly damaging Het
Ube2ql1 T A 13: 69,887,017 (GRCm39) Q148L possibly damaging Het
Vmn1r5 A T 6: 56,962,570 (GRCm39) I82L probably benign Het
Wdr6 A T 9: 108,453,063 (GRCm39) S273R probably damaging Het
Ylpm1 C T 12: 85,043,850 (GRCm39) probably benign Het
Zfp90 G A 8: 107,152,138 (GRCm39) R617Q possibly damaging Het
Other mutations in Artn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Artn APN 4 117,784,484 (GRCm39) missense probably damaging 1.00
R1506:Artn UTSW 4 117,784,058 (GRCm39) missense probably damaging 1.00
R5062:Artn UTSW 4 117,784,873 (GRCm39) missense probably damaging 0.99
R8807:Artn UTSW 4 117,783,915 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AATTACCTGAGGGCACGGACCATC -3'
(R):5'- AGCAAGGTTCTCCATCGCAGCTAC -3'

Sequencing Primer
(F):5'- GGACCATCAGGAGAAATCCCG -3'
(R):5'- AGCTACCGCTGCTGAGTTG -3'
Posted On 2013-05-09