Incidental Mutation 'R0308:Slc6a2'
ID 24975
Institutional Source Beutler Lab
Gene Symbol Slc6a2
Ensembl Gene ENSMUSG00000055368
Gene Name solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Synonyms NE transporter, Slc6a5, NET, norepinephrine transporter
MMRRC Submission 038518-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R0308 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 93687100-93728295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93687988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 38 (E38G)
Ref Sequence ENSEMBL: ENSMUSP00000129869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]
AlphaFold O55192
Predicted Effect possibly damaging
Transcript: ENSMUST00000072939
AA Change: E38G

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: E38G

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165470
AA Change: E38G

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: E38G

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Meta Mutation Damage Score 0.1388 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (82/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,989 (GRCm39) D65V probably damaging Het
4933407L21Rik A T 1: 85,859,007 (GRCm39) probably benign Het
Abcc12 C T 8: 87,284,381 (GRCm39) probably benign Het
Adamts12 A G 15: 11,311,646 (GRCm39) E1301G probably damaging Het
Adh4 A T 3: 138,129,863 (GRCm39) N230Y probably damaging Het
Anapc15-ps T A 10: 95,508,954 (GRCm39) M109L probably benign Het
Angpt2 T C 8: 18,742,141 (GRCm39) I472V possibly damaging Het
Arhgef26 C A 3: 62,247,820 (GRCm39) D301E probably benign Het
Armc10 G A 5: 21,852,295 (GRCm39) probably benign Het
Atm T C 9: 53,365,773 (GRCm39) probably null Het
Atp5f1b T C 10: 127,921,908 (GRCm39) V265A probably benign Het
Atp8b1 G T 18: 64,678,315 (GRCm39) C860* probably null Het
Atrnl1 T G 19: 57,741,720 (GRCm39) S1160A probably benign Het
Bmal1 A T 7: 112,890,743 (GRCm39) I179F probably damaging Het
Cep55 A G 19: 38,048,659 (GRCm39) E105G possibly damaging Het
Cfap54 C A 10: 92,721,226 (GRCm39) D2502Y unknown Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clptm1l A G 13: 73,759,786 (GRCm39) D282G possibly damaging Het
Csrp1 C A 1: 135,673,024 (GRCm39) T47N probably damaging Het
Cyp2c40 T A 19: 39,766,432 (GRCm39) I388F probably damaging Het
Dars1 C T 1: 128,291,996 (GRCm39) R494H probably damaging Het
Dna2 T C 10: 62,792,753 (GRCm39) V256A probably damaging Het
Dock7 T C 4: 98,873,051 (GRCm39) T1132A probably benign Het
Dpcd T G 19: 45,565,445 (GRCm39) F140V probably damaging Het
Elk3 A T 10: 93,101,067 (GRCm39) M228K probably benign Het
Erich6 A G 3: 58,543,525 (GRCm39) F182L probably damaging Het
Fhad1 A G 4: 141,712,904 (GRCm39) probably benign Het
Fryl A T 5: 73,198,947 (GRCm39) probably benign Het
Fzd9 A T 5: 135,278,260 (GRCm39) C542S probably damaging Het
Gba1 A G 3: 89,115,671 (GRCm39) T460A probably benign Het
Gli2 C T 1: 118,769,792 (GRCm39) A587T probably benign Het
Gm11011 C T 2: 169,424,614 (GRCm39) probably benign Het
Gmppb A G 9: 107,927,033 (GRCm39) E68G probably benign Het
Gpld1 A G 13: 25,146,818 (GRCm39) N260S possibly damaging Het
Hipk3 G A 2: 104,263,552 (GRCm39) S900L probably damaging Het
Idi2l T G 13: 8,990,877 (GRCm39) probably benign Het
Ints6l A T X: 55,526,715 (GRCm39) M215L possibly damaging Het
Irx6 T A 8: 93,403,659 (GRCm39) L128Q probably damaging Het
Itga10 T C 3: 96,558,780 (GRCm39) S373P probably damaging Het
Jak1 T C 4: 101,011,732 (GRCm39) probably null Het
Jak2 C T 19: 29,289,157 (GRCm39) T1103I probably benign Het
Katnal1 A T 5: 148,815,734 (GRCm39) V401D possibly damaging Het
Krbox5 A G 13: 67,991,232 (GRCm39) probably benign Het
Lrp2 T A 2: 69,313,326 (GRCm39) probably benign Het
Map3k13 A G 16: 21,710,738 (GRCm39) H7R probably benign Het
Mrgprx3-ps A G 7: 46,959,766 (GRCm39) V75A probably benign Het
Nol6 C T 4: 41,123,584 (GRCm39) A55T probably benign Het
Opa1 G A 16: 29,440,349 (GRCm39) R818Q probably damaging Het
Opn4 T C 14: 34,319,081 (GRCm39) Y168C possibly damaging Het
Or8b35 A G 9: 37,904,141 (GRCm39) I118V probably benign Het
Phf21a T C 2: 92,161,122 (GRCm39) V330A possibly damaging Het
Phykpl A G 11: 51,484,423 (GRCm39) probably benign Het
Plcb1 T G 2: 134,655,534 (GRCm39) V38G probably benign Het
Plxna4 T A 6: 32,214,703 (GRCm39) T593S probably benign Het
Poll A T 19: 45,544,404 (GRCm39) I339N probably damaging Het
Rev3l A G 10: 39,700,890 (GRCm39) I1796V probably benign Het
Rnf103 G A 6: 71,486,686 (GRCm39) R439H probably damaging Het
Rrn3 G A 16: 13,617,746 (GRCm39) probably benign Het
Sec14l4 G A 11: 3,991,726 (GRCm39) probably benign Het
Sec23a A C 12: 59,053,985 (GRCm39) Y4* probably null Het
Senp6 T C 9: 80,040,265 (GRCm39) probably null Het
Serpinb6b A T 13: 33,162,220 (GRCm39) N221Y probably benign Het
Smap1 A T 1: 23,888,423 (GRCm39) L196I probably damaging Het
Sorbs2 C T 8: 46,248,167 (GRCm39) Q473* probably null Het
Sphkap C A 1: 83,254,690 (GRCm39) V1020F probably damaging Het
Srfbp1 T C 18: 52,621,614 (GRCm39) V225A probably benign Het
Srprb G A 9: 103,079,204 (GRCm39) P728S possibly damaging Het
Tarm1 T C 7: 3,545,187 (GRCm39) probably benign Het
Tcp1 T A 17: 13,139,306 (GRCm39) I162N probably benign Het
Tmem237 C A 1: 59,146,676 (GRCm39) A292S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnpo1 A G 13: 98,983,011 (GRCm39) F884L probably damaging Het
Trim7 A G 11: 48,740,328 (GRCm39) T142A probably damaging Het
Ttn T A 2: 76,616,024 (GRCm39) I14894F probably damaging Het
Tubgcp6 T C 15: 89,006,639 (GRCm39) R128G possibly damaging Het
Ube2d2b A G 5: 107,978,774 (GRCm39) T142A possibly damaging Het
Unc13c G T 9: 73,388,400 (GRCm39) L2129I probably benign Het
Ushbp1 T C 8: 71,843,697 (GRCm39) D247G probably damaging Het
Usp43 G A 11: 67,770,966 (GRCm39) A556V probably damaging Het
Zfp438 T A 18: 5,213,638 (GRCm39) H440L probably benign Het
Zfp518b C T 5: 38,830,113 (GRCm39) E631K possibly damaging Het
Other mutations in Slc6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Slc6a2 APN 8 93,723,685 (GRCm39) missense possibly damaging 0.57
IGL00864:Slc6a2 APN 8 93,722,622 (GRCm39) missense probably benign 0.02
IGL00910:Slc6a2 APN 8 93,722,728 (GRCm39) missense probably damaging 1.00
IGL01531:Slc6a2 APN 8 93,722,310 (GRCm39) missense probably damaging 1.00
IGL02209:Slc6a2 APN 8 93,720,688 (GRCm39) missense probably benign 0.41
IGL02962:Slc6a2 APN 8 93,699,390 (GRCm39) nonsense probably null
IGL03391:Slc6a2 APN 8 93,688,080 (GRCm39) missense probably damaging 1.00
H8786:Slc6a2 UTSW 8 93,721,268 (GRCm39) missense probably benign 0.03
R0632:Slc6a2 UTSW 8 93,719,429 (GRCm39) splice site probably benign
R0765:Slc6a2 UTSW 8 93,715,659 (GRCm39) missense probably damaging 0.96
R1250:Slc6a2 UTSW 8 93,719,491 (GRCm39) missense probably benign 0.12
R1444:Slc6a2 UTSW 8 93,697,882 (GRCm39) missense probably damaging 0.99
R1637:Slc6a2 UTSW 8 93,708,618 (GRCm39) missense probably benign 0.00
R1699:Slc6a2 UTSW 8 93,699,440 (GRCm39) missense possibly damaging 0.95
R1760:Slc6a2 UTSW 8 93,687,846 (GRCm39) splice site probably benign
R2046:Slc6a2 UTSW 8 93,699,554 (GRCm39) nonsense probably null
R2169:Slc6a2 UTSW 8 93,720,729 (GRCm39) missense probably benign 0.12
R2182:Slc6a2 UTSW 8 93,687,876 (GRCm39) start codon destroyed probably null 0.00
R3107:Slc6a2 UTSW 8 93,687,906 (GRCm39) missense probably benign 0.26
R3880:Slc6a2 UTSW 8 93,716,846 (GRCm39) missense probably damaging 1.00
R5092:Slc6a2 UTSW 8 93,721,347 (GRCm39) missense possibly damaging 0.87
R5684:Slc6a2 UTSW 8 93,715,681 (GRCm39) missense probably damaging 1.00
R6218:Slc6a2 UTSW 8 93,708,609 (GRCm39) missense probably benign
R6932:Slc6a2 UTSW 8 93,722,653 (GRCm39) missense probably benign 0.00
R7201:Slc6a2 UTSW 8 93,722,300 (GRCm39) missense probably damaging 1.00
R7910:Slc6a2 UTSW 8 93,720,766 (GRCm39) missense possibly damaging 0.53
R8320:Slc6a2 UTSW 8 93,719,476 (GRCm39) missense probably benign 0.31
R8920:Slc6a2 UTSW 8 93,687,990 (GRCm39) missense probably benign
R8963:Slc6a2 UTSW 8 93,715,702 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- CTCCTTTTCTTGGAAGCTGGGAGTC -3'
(R):5'- GCACACTAAATTCGTTCCTGCGTC -3'

Sequencing Primer
(F):5'- GCAAGCCTTGTTGACTGC -3'
(R):5'- GGCAGCATCCCAAGTCC -3'
Posted On 2013-04-16