Incidental Mutation 'R2278:Slc11a2'
ID 242929
Institutional Source Beutler Lab
Gene Symbol Slc11a2
Ensembl Gene ENSMUSG00000023030
Gene Name solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Synonyms DMT1, Nramp2, van, microcytic anemia, viable anaemia, DCT1
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100285779-100322090 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 100307962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000154331] [ENSMUST00000154676]
AlphaFold P49282
Predicted Effect probably null
Transcript: ENSMUST00000023774
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 1.1e-122 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000123461
SMART Domains Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 170 2.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136168
Predicted Effect probably null
Transcript: ENSMUST00000138843
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 4.7e-118 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154331
SMART Domains Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154676
SMART Domains Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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 solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) probably benign Het
Other mutations in Slc11a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Slc11a2 APN 15 100,295,618 (GRCm39) missense probably benign
IGL00923:Slc11a2 APN 15 100,295,669 (GRCm39) missense probably benign 0.13
IGL01645:Slc11a2 APN 15 100,286,999 (GRCm39) missense probably benign 0.05
IGL02146:Slc11a2 APN 15 100,299,169 (GRCm39) missense probably damaging 1.00
IGL02397:Slc11a2 APN 15 100,299,530 (GRCm39) missense probably damaging 1.00
IGL02534:Slc11a2 APN 15 100,299,207 (GRCm39) missense probably benign 0.03
IGL02678:Slc11a2 APN 15 100,310,081 (GRCm39) missense possibly damaging 0.71
R0537:Slc11a2 UTSW 15 100,303,679 (GRCm39) missense probably damaging 1.00
R0538:Slc11a2 UTSW 15 100,306,097 (GRCm39) missense probably damaging 1.00
R1305:Slc11a2 UTSW 15 100,307,963 (GRCm39) critical splice donor site probably null
R1750:Slc11a2 UTSW 15 100,299,168 (GRCm39) missense probably damaging 1.00
R1752:Slc11a2 UTSW 15 100,303,687 (GRCm39) missense probably damaging 1.00
R1895:Slc11a2 UTSW 15 100,301,775 (GRCm39) missense probably benign 0.10
R2519:Slc11a2 UTSW 15 100,299,204 (GRCm39) missense probably damaging 1.00
R4724:Slc11a2 UTSW 15 100,304,219 (GRCm39) missense possibly damaging 0.65
R5643:Slc11a2 UTSW 15 100,301,068 (GRCm39) missense probably benign
R5667:Slc11a2 UTSW 15 100,301,169 (GRCm39) missense probably damaging 1.00
R5671:Slc11a2 UTSW 15 100,301,169 (GRCm39) missense probably damaging 1.00
R5994:Slc11a2 UTSW 15 100,295,562 (GRCm39) missense probably benign
R7008:Slc11a2 UTSW 15 100,307,205 (GRCm39) missense probably damaging 1.00
R7208:Slc11a2 UTSW 15 100,300,213 (GRCm39) missense probably benign 0.00
R7547:Slc11a2 UTSW 15 100,295,651 (GRCm39) missense possibly damaging 0.83
R7829:Slc11a2 UTSW 15 100,307,142 (GRCm39) missense possibly damaging 0.95
R9015:Slc11a2 UTSW 15 100,301,186 (GRCm39) missense probably benign 0.12
R9362:Slc11a2 UTSW 15 100,304,236 (GRCm39) missense probably damaging 1.00
R9573:Slc11a2 UTSW 15 100,304,225 (GRCm39) missense probably damaging 1.00
Z1188:Slc11a2 UTSW 15 100,305,980 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCTCACTAAAGCCACTCAG -3'
(R):5'- CCTAAGGTTGTTGTCAGTGACG -3'

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