Incidental Mutation 'IGL02962:Slc6a2'
ID365384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a2
Ensembl Gene ENSMUSG00000055368
Gene Namesolute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Synonymsnorepinephrine transporter, NE transporter, Slc6a5, NET
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL02962
Quality Score
Status
Chromosome8
Chromosomal Location92960079-93001667 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 92972762 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 139 (Y139*)
Ref Sequence ENSEMBL: ENSMUSP00000129869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]
Predicted Effect probably null
Transcript: ENSMUST00000072939
AA Change: Y139*
SMART Domains Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: Y139*

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165470
AA Change: Y139*
SMART Domains Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: Y139*

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Slc6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Slc6a2 APN 8 92997057 missense possibly damaging 0.57
IGL00864:Slc6a2 APN 8 92995994 missense probably benign 0.02
IGL00910:Slc6a2 APN 8 92996100 missense probably damaging 1.00
IGL01531:Slc6a2 APN 8 92995682 missense probably damaging 1.00
IGL02209:Slc6a2 APN 8 92994060 missense probably benign 0.41
IGL03391:Slc6a2 APN 8 92961452 missense probably damaging 1.00
H8786:Slc6a2 UTSW 8 92994640 missense probably benign 0.03
R0308:Slc6a2 UTSW 8 92961360 missense possibly damaging 0.83
R0632:Slc6a2 UTSW 8 92992801 splice site probably benign
R0765:Slc6a2 UTSW 8 92989031 missense probably damaging 0.96
R1250:Slc6a2 UTSW 8 92992863 missense probably benign 0.12
R1444:Slc6a2 UTSW 8 92971254 missense probably damaging 0.99
R1637:Slc6a2 UTSW 8 92981990 missense probably benign 0.00
R1699:Slc6a2 UTSW 8 92972812 missense possibly damaging 0.95
R1760:Slc6a2 UTSW 8 92961218 splice site probably benign
R2046:Slc6a2 UTSW 8 92972926 nonsense probably null
R2169:Slc6a2 UTSW 8 92994101 missense probably benign 0.12
R2182:Slc6a2 UTSW 8 92961248 start codon destroyed probably null 0.00
R3107:Slc6a2 UTSW 8 92961278 missense probably benign 0.26
R3880:Slc6a2 UTSW 8 92990218 missense probably damaging 1.00
R5092:Slc6a2 UTSW 8 92994719 missense possibly damaging 0.87
R5684:Slc6a2 UTSW 8 92989053 missense probably damaging 1.00
R6218:Slc6a2 UTSW 8 92981981 missense probably benign
R6932:Slc6a2 UTSW 8 92996025 missense probably benign 0.00
R7201:Slc6a2 UTSW 8 92995672 missense probably damaging 1.00
R7910:Slc6a2 UTSW 8 92994138 missense possibly damaging 0.53
R8320:Slc6a2 UTSW 8 92992848 missense probably benign 0.31
Posted On2015-12-18