Incidental Mutation 'R5671:Slc11a2'
ID 442640
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 043314-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100285779-100322090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100301169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 295 (Y295H)
Ref Sequence ENSEMBL: ENSMUSP00000116463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000124324] [ENSMUST00000136168] [ENSMUST00000138843]
AlphaFold P49282
Predicted Effect probably damaging
Transcript: ENSMUST00000023774
AA Change: Y295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: Y295H

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: Y295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: Y295H

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
Meta Mutation Damage Score 0.9521 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Antxr1 C T 6: 87,194,255 (GRCm39) probably null Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nhlrc1 A G 13: 47,167,193 (GRCm39) F355L probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S 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
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
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
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'- CTTTGGGTTCCAGGCCATTG -3'
(R):5'- TTCAAAGGTCAAGGAGTCCC -3'

Sequencing Primer
(F):5'- GGTTCCAGGCCATTGCTCTTG -3'
(R):5'- TCAAGGAGTCCCCGTGAC -3'
Posted On 2016-11-09