Incidental Mutation 'R4923:Slc39a2'
ID 378814
Institutional Source Beutler Lab
Gene Symbol Slc39a2
Ensembl Gene ENSMUSG00000072572
Gene Name solute carrier family 39 (zinc transporter), member 2
Synonyms zip2, F730005G13Rik
MMRRC Submission 042525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4923 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52130539-52134202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52132711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 218 (G218D)
Ref Sequence ENSEMBL: ENSMUSP00000038707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000161888] [ENSMUST00000164252] [ENSMUST00000165100] [ENSMUST00000165568] [ENSMUST00000164902]
AlphaFold G3X943
Predicted Effect probably damaging
Transcript: ENSMUST00000047726
AA Change: G218D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572
AA Change: G218D

DomainStartEndE-ValueType
Pfam:Zip 5 306 1.1e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047899
SMART Domains Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:Rsm22 153 442 8e-65 PFAM
Pfam:Methyltransf_11 191 293 5.9e-7 PFAM
low complexity region 446 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160668
Predicted Effect probably benign
Transcript: ENSMUST00000161888
SMART Domains Protein: ENSMUSP00000124399
Gene: ENSMUSG00000072572

DomainStartEndE-ValueType
Pfam:Zip 5 163 8.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163603
Predicted Effect probably benign
Transcript: ENSMUST00000164252
SMART Domains Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:Rsm22 153 235 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168413
Predicted Effect probably benign
Transcript: ENSMUST00000165100
SMART Domains Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:Rsm22 153 235 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165568
SMART Domains Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561

DomainStartEndE-ValueType
Pfam:Rsm22 100 269 1.5e-37 PFAM
Pfam:Methyltransf_11 138 240 2.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164902
SMART Domains Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:Rsm22 153 467 1.7e-61 PFAM
Pfam:Methyltransf_11 191 294 3.6e-6 PFAM
low complexity region 471 485 N/A INTRINSIC
Meta Mutation Damage Score 0.2511 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
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 ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a null allele are overtly normal when fed a zinc-replete diet but show increased sensitivity to the effects of maternal dietary zinc deficiency during pregnancy. Resulting embryos are often growth retarded with craniofacial and limb defects, and show altered iron and calcium levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Brd4 A G 17: 32,418,214 (GRCm39) M13T probably benign Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elapor1 C T 3: 108,379,284 (GRCm39) probably null Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Odad2 C G 18: 7,181,787 (GRCm39) D846H probably damaging Het
Or12j3 G T 7: 139,952,920 (GRCm39) T201K probably benign Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vit T A 17: 78,894,270 (GRCm39) M224K probably benign Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A probably benign Het
Other mutations in Slc39a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Slc39a2 APN 14 52,132,593 (GRCm39) nonsense probably null
IGL02421:Slc39a2 APN 14 52,131,329 (GRCm39) missense probably benign 0.00
IGL02546:Slc39a2 APN 14 52,132,620 (GRCm39) missense probably benign 0.16
IGL02823:Slc39a2 APN 14 52,132,869 (GRCm39) missense probably damaging 1.00
R1126:Slc39a2 UTSW 14 52,131,602 (GRCm39) missense probably damaging 1.00
R5106:Slc39a2 UTSW 14 52,132,988 (GRCm39) makesense probably null
R6158:Slc39a2 UTSW 14 52,131,681 (GRCm39) splice site probably null
R7094:Slc39a2 UTSW 14 52,131,146 (GRCm39) unclassified probably benign
R7324:Slc39a2 UTSW 14 52,131,650 (GRCm39) missense possibly damaging 0.74
R7340:Slc39a2 UTSW 14 52,131,660 (GRCm39) missense possibly damaging 0.87
R7578:Slc39a2 UTSW 14 52,132,873 (GRCm39) missense probably damaging 1.00
R7599:Slc39a2 UTSW 14 52,132,488 (GRCm39) missense probably benign 0.10
Z1177:Slc39a2 UTSW 14 52,131,352 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATTCCACAAGCATCCAGC -3'
(R):5'- TCCCGGGGCAAAATTTCTAG -3'

Sequencing Primer
(F):5'- TCCAGCGGTACCCTCAC -3'
(R):5'- CCGGGGCAAAATTTCTAGGAAGG -3'
Posted On 2016-04-15