Incidental Mutation 'R0537:Slc11a2'
ID 49521
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 038729-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R0537 (G1)
Quality Score 208
Status Validated
Chromosome 15
Chromosomal Location 100285779-100322090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100303679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 185 (G185R)
Ref Sequence ENSEMBL: ENSMUSP00000116463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000124324] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000154676] [ENSMUST00000154331]
AlphaFold P49282
Predicted Effect probably damaging
Transcript: ENSMUST00000023774
AA Change: G185R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: G185R

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 benign
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: ENSMUST00000124324
SMART Domains Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
Pfam:Nramp 1 165 1.4e-39 PFAM
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136168
Predicted Effect probably damaging
Transcript: ENSMUST00000138843
AA Change: G185R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: G185R

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 noncoding transcript
Transcript: ENSMUST00000140535
Predicted Effect probably benign
Transcript: ENSMUST00000154676
SMART Domains Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154331
SMART Domains Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A T 14: 35,818,657 (GRCm39) K218N probably benign Het
Acot11 T C 4: 106,619,652 (GRCm39) E156G probably benign Het
Arhgef28 A T 13: 98,094,224 (GRCm39) N973K probably damaging Het
B4galt3 T C 1: 171,101,821 (GRCm39) probably benign Het
Bmpr1a T C 14: 34,165,769 (GRCm39) probably benign Het
Camkmt A T 17: 85,702,087 (GRCm39) I184F probably benign Het
Ccdc33 T C 9: 58,024,737 (GRCm39) Y163C probably damaging Het
Ccdc9 A G 7: 16,014,701 (GRCm39) probably benign Het
Dars2 A T 1: 160,888,318 (GRCm39) C201S possibly damaging Het
Dnajc1 A T 2: 18,312,767 (GRCm39) S194R possibly damaging Het
Dock8 A G 19: 25,148,941 (GRCm39) D1473G probably benign Het
Dpm2 T A 2: 32,462,961 (GRCm39) probably null Het
Dsg4 T C 18: 20,591,628 (GRCm39) S456P probably damaging Het
Gys1 T C 7: 45,089,425 (GRCm39) S195P probably damaging Het
Heatr6 G T 11: 83,670,290 (GRCm39) E948* probably null Het
Itgal G A 7: 126,910,445 (GRCm39) R518Q possibly damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lrrtm4 A T 6: 79,999,103 (GRCm39) T172S probably benign Het
Lypd1 A G 1: 125,840,604 (GRCm39) probably benign Het
Mei1 T C 15: 81,975,562 (GRCm39) F121S possibly damaging Het
Mtor C T 4: 148,622,817 (GRCm39) R1966W probably damaging Het
Myh7 A G 14: 55,228,256 (GRCm39) F247L possibly damaging Het
Nebl G T 2: 17,409,026 (GRCm39) D392E possibly damaging Het
Notch2 C A 3: 98,024,057 (GRCm39) N840K possibly damaging Het
Nubp1 T C 16: 10,240,678 (GRCm39) probably benign Het
Or5w16 A T 2: 87,577,017 (GRCm39) Q159L probably benign Het
Or7g19 T C 9: 18,856,444 (GRCm39) S167P probably damaging Het
Pcdh17 T A 14: 84,684,897 (GRCm39) S455T probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pold1 T C 7: 44,184,516 (GRCm39) E828G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rala A T 13: 18,063,233 (GRCm39) N119K probably benign Het
Rasal2 A T 1: 156,975,362 (GRCm39) V1149E possibly damaging Het
Rd3 A G 1: 191,715,501 (GRCm39) Y92C probably damaging Het
Rps18-ps6 A T 13: 97,897,071 (GRCm39) F9Y probably benign Het
Sart1 A T 19: 5,431,752 (GRCm39) D635E probably damaging Het
Sec16b A G 1: 157,365,116 (GRCm39) T335A possibly damaging Het
Slc2a12 G A 10: 22,540,967 (GRCm39) R274H probably damaging Het
Spag17 T C 3: 100,032,618 (GRCm39) V2276A probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm2 T C 11: 36,054,557 (GRCm39) D601G probably damaging Het
Tmem168 C A 6: 13,603,360 (GRCm39) C2F probably damaging Het
Tmem80 A G 7: 140,913,609 (GRCm39) Y13C probably damaging Het
Try4 T A 6: 41,281,296 (GRCm39) N79K probably benign Het
Vldlr C A 19: 27,225,318 (GRCm39) N798K probably damaging Het
Wdr41 A G 13: 95,131,813 (GRCm39) probably benign Het
Zfp30 A T 7: 29,492,160 (GRCm39) E138V probably damaging Het
Zfp366 A C 13: 99,365,786 (GRCm39) T316P probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Znfx1 T C 2: 166,883,621 (GRCm39) H162R probably damaging 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
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
R2278:Slc11a2 UTSW 15 100,307,962 (GRCm39) critical splice donor site probably null
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'- TGCAGCACTTGCCTCATATCCAAAC -3'
(R):5'- GCAAGGCTGCTTATTCCACTGCAC -3'

Sequencing Primer
(F):5'- TCATATCCAAACGTGAGGGC -3'
(R):5'- agctgtgtcccacacatc -3'
Posted On 2013-06-12