Incidental Mutation 'R1506:Artn'
ID 167923
Institutional Source Beutler Lab
Gene Symbol Artn
Ensembl Gene ENSMUSG00000028539
Gene Name artemin
Synonyms neublastin
MMRRC Submission 039554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R1506 (G1)
Quality Score 101
Status Validated
Chromosome 4
Chromosomal Location 117783359-117786960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117784058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000095526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070816] [ENSMUST00000097913]
AlphaFold Q9Z0L2
Predicted Effect probably damaging
Transcript: ENSMUST00000070816
AA Change: V136A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064521
Gene: ENSMUSG00000028539
AA Change: V136A

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 damaging
Transcript: ENSMUST00000097913
AA Change: V136A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095526
Gene: ENSMUSG00000028539
AA Change: V136A

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 noncoding transcript
Transcript: ENSMUST00000133703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150612
Meta Mutation Damage Score 0.8229 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G T 11: 94,248,144 (GRCm39) T1152K possibly damaging Het
Acp3 T A 9: 104,201,373 (GRCm39) T82S probably damaging Het
Adam23 C T 1: 63,586,973 (GRCm39) P445S probably benign Het
Ap3b1 T A 13: 94,582,651 (GRCm39) probably benign Het
Ash1l A G 3: 88,965,806 (GRCm39) T2403A probably damaging Het
Bbof1 G T 12: 84,470,273 (GRCm39) V120L probably damaging Het
Boc A G 16: 44,323,928 (GRCm39) Y158H probably damaging Het
Casp8 A G 1: 58,863,355 (GRCm39) E105G probably damaging Het
Cers4 T C 8: 4,570,557 (GRCm39) F206L probably benign Het
Chrna9 A G 5: 66,126,479 (GRCm39) T78A probably benign Het
Creb3 A T 4: 43,566,193 (GRCm39) T263S possibly damaging Het
Cyp2c40 A G 19: 39,766,443 (GRCm39) V384A probably damaging Het
Dip2b G A 15: 100,080,994 (GRCm39) V879M probably damaging Het
Dnah17 C A 11: 118,016,213 (GRCm39) V14F possibly damaging Het
Epb41l4b T A 4: 57,088,824 (GRCm39) K144N probably damaging Het
Ercc6 A T 14: 32,291,821 (GRCm39) I1062F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat2 C A 11: 55,175,090 (GRCm39) E1874D probably benign Het
Fbxw21 T A 9: 108,977,257 (GRCm39) I151F probably damaging Het
Fhip2a A G 19: 57,357,007 (GRCm39) I33V probably benign Het
Foxn1 A G 11: 78,256,761 (GRCm39) probably benign Het
Gpr63 G A 4: 25,008,227 (GRCm39) R317H probably damaging Het
Grip1 C A 10: 119,814,356 (GRCm39) H296N probably damaging Het
Gtdc1 A T 2: 44,465,506 (GRCm39) M288K possibly damaging Het
Guf1 T A 5: 69,724,509 (GRCm39) D488E possibly damaging Het
Gvin3 C T 7: 106,200,788 (GRCm39) D819N probably benign Het
Heatr5b C A 17: 79,060,576 (GRCm39) R2033L probably damaging Het
Hsd17b2 T A 8: 118,429,004 (GRCm39) probably null Het
Ino80 A T 2: 119,255,746 (GRCm39) L913* probably null Het
Inppl1 A C 7: 101,473,174 (GRCm39) S1159A probably benign Het
Kcnk7 G A 19: 5,756,140 (GRCm39) C122Y probably damaging Het
Mtor A G 4: 148,620,962 (GRCm39) probably benign Het
Muc4 A T 16: 32,574,033 (GRCm39) S704C possibly damaging Het
Nckap5 A T 1: 125,953,650 (GRCm39) C967* probably null Het
Nek10 T C 14: 14,999,078 (GRCm38) probably benign Het
Oas1h A T 5: 121,009,951 (GRCm39) D342V possibly damaging Het
Or10j2 A G 1: 173,098,336 (GRCm39) N198S probably benign Het
Or2ak7 T A 11: 58,575,014 (GRCm39) L105Q probably benign Het
Or2n1 A T 17: 38,486,091 (GRCm39) M39L probably benign Het
Or4m1 A G 14: 50,557,941 (GRCm39) V117A probably benign Het
Or8b1b T C 9: 38,375,439 (GRCm39) M34T probably benign Het
Prex1 A T 2: 166,429,001 (GRCm39) V694E probably damaging Het
Rad50 G A 11: 53,570,312 (GRCm39) A810V probably damaging Het
Rcor1 T C 12: 111,076,271 (GRCm39) S410P probably damaging Het
Rps14 A T 18: 60,909,551 (GRCm39) N26I probably benign Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc5a1 T A 5: 33,312,052 (GRCm39) N481K possibly damaging Het
Slco3a1 A T 7: 74,009,683 (GRCm39) probably null Het
Spart T C 3: 55,024,992 (GRCm39) S196P probably damaging Het
Speg A G 1: 75,394,307 (GRCm39) T1701A probably benign Het
Sugt1 A G 14: 79,862,365 (GRCm39) N271S probably benign Het
Tbx15 A T 3: 99,259,228 (GRCm39) L366F possibly damaging Het
Tnc G A 4: 63,925,921 (GRCm39) T953I possibly damaging Het
Uqcc1 A G 2: 155,753,738 (GRCm39) S46P probably damaging Het
Vmn2r18 T C 5: 151,499,099 (GRCm39) probably null Het
Vmn2r7 T A 3: 64,614,500 (GRCm39) Y438F probably benign Het
Vmn2r72 T A 7: 85,398,419 (GRCm39) K520N probably benign Het
Vps52 T C 17: 34,176,868 (GRCm39) L74P probably damaging Het
Xpo5 G T 17: 46,538,814 (GRCm39) M673I probably benign Het
Zscan18 A G 7: 12,508,129 (GRCm39) V457A probably damaging Het
Other mutations in Artn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Artn APN 4 117,784,484 (GRCm39) missense probably damaging 1.00
R0378:Artn UTSW 4 117,784,815 (GRCm39) unclassified probably benign
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'- TGTTCACGTCCATGAAGGAGACGG -3'
(R):5'- GCATTTGTGCAGCGAAAGAACCC -3'

Sequencing Primer
(F):5'- AGGAGACGGCCTCATAGC -3'
(R):5'- GCGAAAGAACCCTGCGAC -3'
Posted On 2014-04-13