Incidental Mutation 'R2272:Slc47a2'
ID 242582
Institutional Source Beutler Lab
Gene Symbol Slc47a2
Ensembl Gene ENSMUSG00000069855
Gene Name solute carrier family 47, member 2
Synonyms 4933429E10Rik
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61192457-61233686 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 61219352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093029] [ENSMUST00000134423]
AlphaFold Q3V050
Predicted Effect probably null
Transcript: ENSMUST00000093029
SMART Domains Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855

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 null
Transcript: ENSMUST00000134423
SMART Domains Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably 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
R2217:Slc47a2 UTSW 11 61,204,497 (GRCm39) missense probably benign 0.00
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
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'- GCCACTGAAGCCTTCACATTG -3'
(R):5'- AATTTCACTTGGCAACCTAGC -3'

Sequencing Primer
(F):5'- ACATTGCTTCCTCCAACACGG -3'
(R):5'- GCCAACTGCCTTTTGAAAATGG -3'
Posted On 2014-10-16