Incidental Mutation 'R5092:Slc6a2'
ID 387832
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 042681-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R5092 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 93687100-93728295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93721347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 492 (V492A)
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: V492A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: V492A

Pfam:SNF 56 580 4.7e-242 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165470
AA Change: V492A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: V492A

Pfam:SNF 56 580 4.7e-242 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,637,091 (GRCm39) probably benign Het
Abca13 T A 11: 9,208,535 (GRCm39) L236Q probably damaging Het
Acp2 A T 2: 91,038,391 (GRCm39) T255S probably benign Het
Acsf3 A C 8: 123,544,131 (GRCm39) R536S probably benign Het
Adgrb1 T G 15: 74,401,664 (GRCm39) V220G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atp5f1b A G 10: 127,919,854 (GRCm39) Q74R probably benign Het
Bltp1 A T 3: 37,054,234 (GRCm39) M3118L probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Capn9 A G 8: 125,324,264 (GRCm39) K188R probably damaging Het
Casp8 A T 1: 58,883,835 (GRCm39) N381Y possibly damaging Het
Ccdc88b A G 19: 6,825,600 (GRCm39) S1218P probably damaging Het
Cdc42bpg C T 19: 6,363,250 (GRCm39) P403S probably benign Het
Cdkal1 T A 13: 30,030,222 (GRCm39) Y91F probably damaging Het
Cdyl2 T C 8: 117,350,679 (GRCm39) N151D possibly damaging Het
Cnot1 T A 8: 96,479,396 (GRCm39) R875S possibly damaging Het
Cpd A G 11: 76,702,530 (GRCm39) S613P possibly damaging Het
Cyp2e1 G T 7: 140,354,648 (GRCm39) R492L probably damaging Het
D5Ertd579e G A 5: 36,760,047 (GRCm39) T1371M probably benign Het
Dcaf8 A G 1: 172,014,476 (GRCm39) T394A probably benign Het
Dgka T C 10: 128,571,702 (GRCm39) E117G probably damaging Het
Dock4 G A 12: 40,894,440 (GRCm39) V1867I probably benign Het
E2f2 G T 4: 135,914,248 (GRCm39) A333S probably benign Het
Eif3l T C 15: 78,968,354 (GRCm39) S208P probably benign Het
Elovl3 A T 19: 46,122,961 (GRCm39) H179L probably damaging Het
Eml5 T C 12: 98,758,875 (GRCm39) D1766G probably damaging Het
Eno4 A G 19: 58,934,023 (GRCm39) T75A probably benign Het
Fam135a C T 1: 24,067,888 (GRCm39) D94N probably benign Het
Fasn G T 11: 120,705,862 (GRCm39) Q1136K probably benign Het
Fcer1a T G 1: 173,053,022 (GRCm39) N58T probably damaging Het
Frmd4b T A 6: 97,272,941 (GRCm39) D763V probably damaging Het
Gm43518 A G 5: 124,076,297 (GRCm39) T115A probably damaging Het
Gria4 C T 9: 4,472,176 (GRCm39) E438K probably benign Het
Grin2d T C 7: 45,503,692 (GRCm39) E681G probably damaging Het
Gtf3c5 G T 2: 28,472,885 (GRCm39) N35K possibly damaging Het
Hydin A G 8: 111,309,300 (GRCm39) T4031A probably benign Het
Igfn1 G T 1: 135,892,564 (GRCm39) N2185K probably benign Het
Il17rb T C 14: 29,724,333 (GRCm39) T174A probably benign Het
Kdm3b T A 18: 34,946,515 (GRCm39) C835S probably benign Het
Lgi2 A T 5: 52,695,429 (GRCm39) I510N probably damaging Het
Map3k6 A G 4: 132,979,054 (GRCm39) E1164G probably benign Het
Mpv17l T A 16: 13,758,537 (GRCm39) M1K probably null Het
Myoc T A 1: 162,467,203 (GRCm39) L124Q probably damaging Het
Nbeal2 C A 9: 110,455,796 (GRCm39) probably null Het
Nek10 A G 14: 14,820,851 (GRCm38) K13E possibly damaging Het
Nt5dc2 A G 14: 30,860,989 (GRCm39) H491R possibly damaging Het
Or4f61 A C 2: 111,922,452 (GRCm39) M198R possibly damaging Het
Or51b6 T A 7: 103,556,406 (GRCm39) Y250* probably null Het
Or8k21 T C 2: 86,144,706 (GRCm39) Q308R probably benign Het
Pclo T A 5: 14,727,322 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,092 (GRCm39) N371I possibly damaging Het
Phf20l1 T A 15: 66,508,762 (GRCm39) S873T possibly damaging Het
Plch1 T C 3: 63,606,131 (GRCm39) T1249A probably benign Het
Plekhn1 A T 4: 156,309,222 (GRCm39) I228N possibly damaging Het
Ppp1r12a A T 10: 108,103,263 (GRCm39) probably null Het
Ptchd3 T C 11: 121,721,972 (GRCm39) Y282H probably damaging Het
Ptprk T A 10: 28,468,769 (GRCm39) N1396K probably damaging Het
Rap1gap2 T C 11: 74,329,121 (GRCm39) E81G probably damaging Het
Rpf2 T C 10: 40,122,971 (GRCm39) M1V probably null Het
Rpgrip1l G A 8: 91,948,012 (GRCm39) Q1224* probably null Het
Rreb1 A G 13: 38,112,254 (GRCm39) D286G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Senp5 A T 16: 31,807,960 (GRCm39) N431K probably benign Het
Serpina1f A C 12: 103,659,809 (GRCm39) S158A probably damaging Het
Sertad3 T A 7: 27,176,145 (GRCm39) I193N probably damaging Het
Slc22a8 T A 19: 8,571,528 (GRCm39) N86K probably damaging Het
Slf2 T A 19: 44,940,523 (GRCm39) D773E probably benign Het
Slmap A C 14: 26,184,744 (GRCm39) L272R probably damaging Het
Smyd5 T C 6: 85,422,185 (GRCm39) probably benign Het
Snx21 G T 2: 164,628,666 (GRCm39) R103L probably damaging Het
Sphk2 T A 7: 45,361,777 (GRCm39) probably null Het
Stab1 T C 14: 30,867,812 (GRCm39) K1653E probably benign Het
Syde1 A G 10: 78,425,252 (GRCm39) V253A probably benign Het
Sympk G T 7: 18,776,584 (GRCm39) R492L probably benign Het
Taar7f T C 10: 23,925,451 (GRCm39) I15T probably benign Het
Tas2r140 A G 6: 40,468,200 (GRCm39) D10G probably benign Het
Tbcc A G 17: 47,202,600 (GRCm39) S329G probably benign Het
Teddm3 G A 16: 20,971,900 (GRCm39) T223M probably benign Het
Tex14 G T 11: 87,405,668 (GRCm39) C860F probably benign Het
Thada A T 17: 84,751,896 (GRCm39) L360Q probably damaging Het
Thop1 C A 10: 80,916,412 (GRCm39) H473Q probably damaging Het
Tln2 T C 9: 67,163,310 (GRCm39) D1075G probably benign Het
Tmem130 G A 5: 144,680,528 (GRCm39) T292I probably benign Het
Tmem198b T C 10: 128,637,305 (GRCm39) N278S probably benign Het
Ttc21a A T 9: 119,771,731 (GRCm39) T177S probably benign Het
Ubr2 A T 17: 47,280,173 (GRCm39) C659S probably damaging Het
Vmn2r4 T C 3: 64,298,373 (GRCm39) K585R probably benign Het
Vmn2r86 A G 10: 130,282,456 (GRCm39) I720T probably damaging Het
Wdr35 G T 12: 9,037,327 (GRCm39) W311L probably damaging Het
Zfp39 A T 11: 58,782,028 (GRCm39) F245I possibly damaging Het
Zftraf1 A T 15: 76,530,512 (GRCm39) F269L probably benign Het
Zmym5 G A 14: 57,034,236 (GRCm39) T325I probably benign Het
Zng1 A T 19: 24,898,383 (GRCm39) probably null 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
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

Sequencing Primer
Posted On 2016-06-06