Incidental Mutation 'R8320:Slc6a2'
ID641912
Institutional Source Beutler Lab
Gene Symbol Slc6a2
Ensembl Gene ENSMUSG00000055368
Gene Namesolute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Synonymsnorepinephrine transporter, NE transporter, Slc6a5, NET
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.294) question?
Stock #R8320 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location92960079-93001667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 92992848 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 397 (T397I)
Ref Sequence ENSEMBL: ENSMUSP00000072709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]
Predicted Effect probably benign
Transcript: ENSMUST00000072939
AA Change: T397I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: T397I

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165470
AA Change: T397I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: T397I

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb10 A G 5: 24,537,628 probably null Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Clec3a T C 8: 114,425,629 V125A probably benign Het
Clspn A G 4: 126,563,950 D258G possibly damaging Het
Cnn3 T G 3: 121,449,986 L32R probably damaging Het
Cntnap5a T C 1: 116,446,736 F993L possibly damaging Het
Cobl A G 11: 12,267,001 S496P probably damaging Het
Dmxl2 A G 9: 54,383,759 V2469A probably benign Het
Dpcr1 T C 17: 35,643,638 T11A probably benign Het
Egfr T C 11: 16,891,251 F714S probably damaging Het
Erap1 G C 13: 74,666,549 E465Q probably benign Het
Ercc6 T C 14: 32,521,015 V204A probably benign Het
Fbln2 C T 6: 91,257,767 T689I possibly damaging Het
Fbxw13 G T 9: 109,183,066 T311K probably benign Het
Foxj2 T A 6: 122,833,690 S210T probably benign Het
Gnl1 A G 17: 35,982,598 N225S probably damaging Het
Grid2 T C 6: 63,256,933 I26T probably benign Het
Gzmd A G 14: 56,129,733 I234T probably benign Het
Igkv2-137 GA GAA 6: 67,556,170 probably null Het
Kif26b T C 1: 178,884,076 probably null Het
Klk1b1 C T 7: 43,970,343 R109C possibly damaging Het
Klra10 A G 6: 130,269,248 C255R probably damaging Het
Lgi4 T C 7: 31,068,941 V455A probably benign Het
Neb C A 2: 52,296,331 V910L probably benign Het
Pigg G A 5: 108,347,851 R918H probably benign Het
Poln A G 5: 34,149,827 V10A possibly damaging Het
Polr1a T A 6: 71,941,384 M642K probably damaging Het
Rasal1 C T 5: 120,666,355 R431C probably benign Het
Rfc1 A T 5: 65,303,036 Y167* probably null Het
Rnf17 TG T 14: 56,424,542 probably null Het
Sars2 C T 7: 28,746,868 T174I probably damaging Het
Sept4 T C 11: 87,589,734 V398A possibly damaging Het
Smarca4 G T 9: 21,677,502 R1200L probably benign Het
Stx7 G T 10: 24,179,148 A63S probably damaging Het
Sval3 G A 6: 41,972,524 V99I probably benign Het
Syna A G 5: 134,559,720 I125T possibly damaging Het
Syne2 T C 12: 76,103,830 S1827P probably damaging Het
Taf4b T C 18: 14,783,692 V33A possibly damaging Het
Tpcn2 C T 7: 145,266,622 R373H possibly damaging Het
Trpm1 A G 7: 64,268,793 D1511G possibly damaging Het
Ttc3 C A 16: 94,418,676 R487S probably damaging Het
Tubb3 T C 8: 123,420,855 S176P possibly damaging Het
Zfp189 C G 4: 49,530,180 Q428E probably benign Het
Zscan4d C T 7: 11,066,015 V316M probably benign 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
IGL02962:Slc6a2 APN 8 92972762 nonsense probably null
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
R8920:Slc6a2 UTSW 8 92961362 missense probably benign
R8963:Slc6a2 UTSW 8 92989074 missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGCTTGGGAAACAGAGATCC -3'
(R):5'- GCCCTTGGAAACAGATACCAG -3'

Sequencing Primer
(F):5'- CATTCCAAGATTCCAAGTCTGTG -3'
(R):5'- TTGGAAACAGATACCAGACAGC -3'
Posted On2020-07-28