Incidental Mutation 'R2217:Slc47a2'
ID 241225
Institutional Source Beutler Lab
Gene Symbol Slc47a2
Ensembl Gene ENSMUSG00000069855
Gene Name solute carrier family 47, member 2
Synonyms 4933429E10Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61192457-61233686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61204497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 285 (T285A)
Ref Sequence ENSEMBL: ENSMUSP00000120907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093029] [ENSMUST00000134423]
AlphaFold Q3V050
Predicted Effect probably benign
Transcript: ENSMUST00000093029
AA Change: T285A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: T285A

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
Pfam:MatE 53 213 1.7e-35 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Pfam:MatE 274 435 4e-34 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 545 567 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134423
AA Change: T285A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: T285A

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
Pfam:MatE 53 213 3.5e-32 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Pfam:MatE 274 435 1.7e-36 PFAM
transmembrane domain 444 466 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Slc47a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Slc47a2 APN 11 61,193,059 (GRCm39) missense probably benign 0.16
IGL01367:Slc47a2 APN 11 61,220,607 (GRCm39) missense probably benign 0.03
IGL01681:Slc47a2 APN 11 61,228,866 (GRCm39) missense probably damaging 1.00
IGL01874:Slc47a2 APN 11 61,203,685 (GRCm39) critical splice acceptor site probably null
IGL02049:Slc47a2 APN 11 61,233,365 (GRCm39) missense probably damaging 0.98
IGL02399:Slc47a2 APN 11 61,193,020 (GRCm39) unclassified probably benign
IGL02481:Slc47a2 APN 11 61,227,067 (GRCm39) missense possibly damaging 0.58
IGL02880:Slc47a2 APN 11 61,198,366 (GRCm39) missense probably damaging 0.97
IGL03068:Slc47a2 APN 11 61,194,769 (GRCm39) missense probably damaging 1.00
IGL03136:Slc47a2 APN 11 61,201,591 (GRCm39) missense probably benign 0.00
IGL03236:Slc47a2 APN 11 61,204,505 (GRCm39) missense probably damaging 1.00
IGL03286:Slc47a2 APN 11 61,233,293 (GRCm39) missense possibly damaging 0.57
R0047:Slc47a2 UTSW 11 61,227,068 (GRCm39) missense possibly damaging 0.90
R0047:Slc47a2 UTSW 11 61,227,068 (GRCm39) missense possibly damaging 0.90
R0597:Slc47a2 UTSW 11 61,200,802 (GRCm39) missense probably damaging 0.98
R0690:Slc47a2 UTSW 11 61,233,330 (GRCm39) missense possibly damaging 0.62
R2042:Slc47a2 UTSW 11 61,228,908 (GRCm39) missense probably benign 0.05
R2218:Slc47a2 UTSW 11 61,204,497 (GRCm39) missense probably benign 0.00
R2271:Slc47a2 UTSW 11 61,219,352 (GRCm39) critical splice donor site probably null
R2272:Slc47a2 UTSW 11 61,219,352 (GRCm39) critical splice donor site probably null
R4067:Slc47a2 UTSW 11 61,194,773 (GRCm39) missense probably benign 0.00
R4861:Slc47a2 UTSW 11 61,227,059 (GRCm39) missense probably benign 0.00
R4861:Slc47a2 UTSW 11 61,227,059 (GRCm39) missense probably benign 0.00
R4862:Slc47a2 UTSW 11 61,204,520 (GRCm39) missense possibly damaging 0.69
R4985:Slc47a2 UTSW 11 61,193,059 (GRCm39) missense probably benign
R5419:Slc47a2 UTSW 11 61,198,412 (GRCm39) missense probably benign
R5593:Slc47a2 UTSW 11 61,233,486 (GRCm39) missense probably benign 0.00
R7105:Slc47a2 UTSW 11 61,233,269 (GRCm39) missense probably benign 0.07
R7358:Slc47a2 UTSW 11 61,199,699 (GRCm39) missense possibly damaging 0.78
R7522:Slc47a2 UTSW 11 61,193,076 (GRCm39) missense probably benign 0.14
R8743:Slc47a2 UTSW 11 61,233,588 (GRCm39) missense probably benign 0.03
R8916:Slc47a2 UTSW 11 61,193,118 (GRCm39) missense probably damaging 1.00
R9060:Slc47a2 UTSW 11 61,227,699 (GRCm39) missense probably benign 0.00
R9383:Slc47a2 UTSW 11 61,227,749 (GRCm39) missense probably damaging 1.00
R9484:Slc47a2 UTSW 11 61,227,060 (GRCm39) missense possibly damaging 0.46
Z1176:Slc47a2 UTSW 11 61,216,715 (GRCm39) missense probably benign 0.28
Z1177:Slc47a2 UTSW 11 61,219,401 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGATCACAAAACACAGGCGG -3'
(R):5'- AAGCTGTGGTCTTCCCTGAC -3'

Sequencing Primer
(F):5'- TGAGAGCGATGCCAGCG -3'
(R):5'- CGTATCCTGCTGGGGAAC -3'
Posted On 2014-10-15