Incidental Mutation 'R8963:Slc6a2'
ID 682495
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 068797-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R8963 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 93687100-93728295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93715702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 280 (H280L)
Ref Sequence ENSEMBL: ENSMUSP00000129869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]
AlphaFold O55192
Predicted Effect probably benign
Transcript: ENSMUST00000072939
AA Change: H280L

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: H280L

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165470
AA Change: H280L

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: H280L

DomainStartEndE-ValueType
Pfam:SNF 56 580 4.7e-242 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,902,963 (GRCm39) T421A probably damaging Het
Adamts12 T C 15: 11,317,443 (GRCm39) probably null Het
Adgrv1 A T 13: 81,567,588 (GRCm39) V5195E probably benign Het
Adora2b C T 11: 62,139,983 (GRCm39) A19V possibly damaging Het
Ankrd28 A G 14: 31,477,698 (GRCm39) C115R probably benign Het
Ankrd35 T A 3: 96,587,003 (GRCm39) L106* probably null Het
Ankrd44 G A 1: 54,801,538 (GRCm39) A263V probably damaging Het
Apol7b T C 15: 77,308,120 (GRCm39) K125R possibly damaging Het
Cacna1c A T 6: 118,719,232 (GRCm39) L245* probably null Het
Cbll1 A T 12: 31,538,199 (GRCm39) H185Q probably damaging Het
Ccdc150 A C 1: 54,311,641 (GRCm39) N209T probably benign Het
Ccdc88a T A 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Cfap54 C A 10: 92,864,562 (GRCm39) G124* probably null Het
Chml A T 1: 175,514,601 (GRCm39) L440H probably damaging Het
Chrnd A T 1: 87,122,603 (GRCm39) Q128L probably damaging Het
Clvs2 A T 10: 33,498,677 (GRCm39) D84E probably benign Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Cyp2c40 T A 19: 39,755,926 (GRCm39) I463F possibly damaging Het
Cyp51 C A 5: 4,136,519 (GRCm39) R425L probably damaging Het
Daam1 A G 12: 71,992,018 (GRCm39) T279A unknown Het
Ebf2 G T 14: 67,665,554 (GRCm39) V571F probably benign Het
Elapor2 T A 5: 9,487,792 (GRCm39) N559K probably damaging Het
Elavl4 A T 4: 110,063,776 (GRCm39) I275N probably damaging Het
F11r A G 1: 171,288,505 (GRCm39) Q116R probably benign Het
Foxred2 T A 15: 77,829,805 (GRCm39) D580V probably benign Het
Gatad1 A C 5: 3,691,544 (GRCm39) L4R probably damaging Het
Gcn1 T A 5: 115,727,153 (GRCm39) M670K probably benign Het
Greb1 A T 12: 16,774,885 (GRCm39) F171I probably damaging Het
Grin2b A G 6: 136,021,007 (GRCm39) V98A probably damaging Het
Helz2 A T 2: 180,871,407 (GRCm39) V2735E probably damaging Het
Hrct1 A T 4: 43,727,564 (GRCm39) probably benign Het
Ighv1-11 C T 12: 114,575,864 (GRCm39) R117K probably damaging Het
Igkv12-46 A T 6: 69,741,754 (GRCm39) S34T probably damaging Het
Il27ra T A 8: 84,767,711 (GRCm39) N71Y probably damaging Het
Iqca1 G T 1: 90,067,649 (GRCm39) H201N probably benign Het
Itgb1bp1 C T 12: 21,324,864 (GRCm39) R64Q probably damaging Het
Katnb1 T C 8: 95,809,519 (GRCm39) L13S probably damaging Het
Kif26b G A 1: 178,743,714 (GRCm39) R1270Q probably benign Het
Klhdc2 A T 12: 69,347,065 (GRCm39) R77* probably null Het
Klra10 A T 6: 130,249,617 (GRCm39) probably null Het
Large1 A T 8: 73,542,612 (GRCm39) I704N probably damaging Het
Lrp1b G A 2: 40,888,196 (GRCm39) H2241Y probably benign Het
Lrpap1 T A 5: 35,255,001 (GRCm39) M212L probably benign Het
Mab21l1 A G 3: 55,690,348 (GRCm39) probably benign Het
Map4k4 A T 1: 40,039,740 (GRCm39) Q44L probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Me1 A T 9: 86,480,844 (GRCm39) F354I probably damaging Het
Nlrp1b A G 11: 71,108,658 (GRCm39) V281A probably damaging Het
Nrip2 A G 6: 128,385,288 (GRCm39) T240A possibly damaging Het
Nsmaf A G 4: 6,428,471 (GRCm39) V203A probably damaging Het
Or12e8 T A 2: 87,187,950 (GRCm39) I54K possibly damaging Het
Or4g17 A T 2: 111,209,645 (GRCm39) Q100L probably damaging Het
Or4n5 A T 14: 50,132,509 (GRCm39) M250K probably benign Het
Or8g2 A G 9: 39,821,495 (GRCm39) Y132C probably damaging Het
P4ha2 T C 11: 54,004,995 (GRCm39) F124L probably benign Het
Pcdha9 A T 18: 37,131,750 (GRCm39) D273V probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxnd1 G T 6: 115,949,506 (GRCm39) S760* probably null Het
Polr1b A G 2: 128,957,576 (GRCm39) T544A probably benign Het
Polr2g T C 19: 8,771,513 (GRCm39) D153G probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Rad51ap2 A C 12: 11,506,255 (GRCm39) E59A possibly damaging Het
Rrm1 A T 7: 102,105,739 (GRCm39) Y285F probably benign Het
Ryr3 A G 2: 112,667,015 (GRCm39) probably null Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Sftpd A G 14: 40,905,001 (GRCm39) V30A probably benign Het
Sirt6 A G 10: 81,462,378 (GRCm39) V7A probably benign Het
Ska1 C T 18: 74,330,639 (GRCm39) V188M probably damaging Het
Skint8 G A 4: 111,794,241 (GRCm39) M210I probably benign Het
Slc6a11 A G 6: 114,202,782 (GRCm39) probably null Het
Sptan1 T C 2: 29,873,744 (GRCm39) V208A possibly damaging Het
Taf6l T A 19: 8,752,135 (GRCm39) T518S probably benign Het
Thoc2l T C 5: 104,665,652 (GRCm39) V58A probably benign Het
Tsc22d1 T C 14: 76,656,266 (GRCm39) M59T probably benign Het
Unc5cl A G 17: 48,769,361 (GRCm39) T282A probably benign Het
Vav3 A G 3: 109,590,229 (GRCm39) K260E probably damaging Het
Vmn2r53 A G 7: 12,315,926 (GRCm39) V631A probably damaging Het
Zfp938 A T 10: 82,061,287 (GRCm39) F444L 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
R0308:Slc6a2 UTSW 8 93,687,988 (GRCm39) missense possibly damaging 0.83
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
Predicted Primers PCR Primer
(F):5'- ACCTCCAACACTAGGAGAAGGG -3'
(R):5'- GCCTTGATCTACCTCACAGTGG -3'

Sequencing Primer
(F):5'- CTCCAACACTAGGAGAAGGGAAGTG -3'
(R):5'- GATCTACCTCACAGTGGTAAGCTAG -3'
Posted On 2021-08-31