Incidental Mutation 'R7053:Slc30a2'
ID 547699
Institutional Source Beutler Lab
Gene Symbol Slc30a2
Ensembl Gene ENSMUSG00000028836
Gene Name solute carrier family 30 (zinc transporter), member 2
Synonyms Znt2
MMRRC Submission 045150-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R7053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 134070492-134081795 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134074726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 161 (R161Q)
Ref Sequence ENSEMBL: ENSMUSP00000101500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105873] [ENSMUST00000105874]
AlphaFold Q2HJ10
Predicted Effect probably damaging
Transcript: ENSMUST00000081094
AA Change: R81Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836
AA Change: R81Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105872
AA Change: R81Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836
AA Change: R81Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105873
AA Change: R112Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836
AA Change: R112Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 74 311 3.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105874
AA Change: R161Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
AA Change: R161Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 70 277 3.4e-51 PFAM
Meta Mutation Damage Score 0.8991 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,021,836 (GRCm39) C551* probably null Het
Aldh1l1 C A 6: 90,540,420 (GRCm39) T235K possibly damaging Het
Atp6v0a2 A G 5: 124,783,923 (GRCm39) E257G probably damaging Het
AW146154 A G 7: 41,131,988 (GRCm39) probably null Het
BC048507 T C 13: 68,011,772 (GRCm39) Y50H probably benign Het
Brip1 T C 11: 86,083,791 (GRCm39) N77D possibly damaging Het
Ccdc13 T C 9: 121,662,904 (GRCm39) E37G probably damaging Het
Ccn6 A G 10: 39,034,297 (GRCm39) Y102H probably damaging Het
Col27a1 T A 4: 63,251,404 (GRCm39) probably benign Het
Corin T A 5: 72,458,870 (GRCm39) I960L probably benign Het
Csnk2b A G 17: 35,335,422 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,676,801 (GRCm39) S182G probably benign Het
Dennd1a A G 2: 37,851,666 (GRCm39) L74P probably damaging Het
Dip2c A G 13: 9,660,740 (GRCm39) D838G probably damaging Het
Dkkl1 G T 7: 44,857,022 (GRCm39) Q182K probably damaging Het
Dnai2 T C 11: 114,629,521 (GRCm39) S183P probably damaging Het
Dnhd1 T C 7: 105,344,161 (GRCm39) L1835P probably damaging Het
Espl1 T C 15: 102,225,328 (GRCm39) probably null Het
Fam174a C T 1: 95,252,953 (GRCm39) A185V probably damaging Het
Fhip1b C T 7: 105,033,779 (GRCm39) G479D probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Grid2 G T 6: 64,677,402 (GRCm39) A74S unknown Het
Gsdma3 T A 11: 98,520,621 (GRCm39) M84K possibly damaging Het
Hlcs A T 16: 94,068,874 (GRCm39) S262R possibly damaging Het
Lrp1 A G 10: 127,376,963 (GRCm39) C4205R probably damaging Het
Mdc1 C T 17: 36,157,218 (GRCm39) A181V probably benign Het
Mdga2 T A 12: 66,736,158 (GRCm39) I357F probably benign Het
Mfn1 A G 3: 32,586,114 (GRCm39) I21V probably benign Het
Mgat4b C T 11: 50,124,367 (GRCm39) T409M probably damaging Het
Mgat4d G T 8: 84,098,261 (GRCm39) K341N probably damaging Het
Mpo A T 11: 87,694,336 (GRCm39) N109Y probably damaging Het
Mvp T C 7: 126,586,776 (GRCm39) Q785R possibly damaging Het
Nim1k A G 13: 120,189,145 (GRCm39) V88A probably damaging Het
Oasl2 A T 5: 115,049,291 (GRCm39) I464L possibly damaging Het
Or5m11b G T 2: 85,806,358 (GRCm39) C257F possibly damaging Het
Pkd1l2 A G 8: 117,740,681 (GRCm39) F2139L probably damaging Het
Pop1 T G 15: 34,530,421 (GRCm39) S940A probably benign Het
Ppp1r9a T A 6: 4,905,670 (GRCm39) M75K probably damaging Het
Prdm15 G A 16: 97,595,742 (GRCm39) Q1029* probably null Het
Rffl T C 11: 82,703,497 (GRCm39) K142R probably null Het
Rhou A G 8: 124,380,934 (GRCm39) probably benign Het
Rp1l1 A T 14: 64,268,958 (GRCm39) T1515S possibly damaging Het
Serpina1b T A 12: 103,698,688 (GRCm39) S54C possibly damaging Het
Taok3 T A 5: 117,390,627 (GRCm39) D529E probably benign Het
Tmem18 T A 12: 30,634,506 (GRCm39) M1K probably null Het
Tmem269 T A 4: 119,066,464 (GRCm39) H198L probably damaging Het
Tnrc18 A G 5: 142,772,984 (GRCm39) V432A unknown Het
Ttc6 A T 12: 57,707,318 (GRCm39) T742S probably benign Het
Uhrf2 T A 19: 30,069,519 (GRCm39) C749S probably damaging Het
Unc13c G A 9: 73,839,579 (GRCm39) T424I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r61 A C 7: 41,916,557 (GRCm39) D390A probably damaging Het
Xpo7 A G 14: 70,922,298 (GRCm39) probably null Het
Zfp948 T A 17: 21,805,121 (GRCm39) L37* probably null Het
Other mutations in Slc30a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Slc30a2 APN 4 134,070,611 (GRCm39) missense probably damaging 0.96
IGL01822:Slc30a2 APN 4 134,075,948 (GRCm39) missense probably damaging 0.98
IGL02808:Slc30a2 APN 4 134,071,360 (GRCm39) missense possibly damaging 0.65
R1415:Slc30a2 UTSW 4 134,076,660 (GRCm39) missense probably damaging 1.00
R2279:Slc30a2 UTSW 4 134,075,857 (GRCm39) missense probably benign
R4151:Slc30a2 UTSW 4 134,071,359 (GRCm39) missense probably benign 0.00
R4278:Slc30a2 UTSW 4 134,073,360 (GRCm39) missense probably null 1.00
R4783:Slc30a2 UTSW 4 134,071,317 (GRCm39) critical splice acceptor site probably null
R5823:Slc30a2 UTSW 4 134,073,289 (GRCm39) missense probably damaging 0.98
R7017:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
R7018:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
R7021:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
R7034:Slc30a2 UTSW 4 134,074,653 (GRCm39) missense possibly damaging 0.80
R7056:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
R7057:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
R7067:Slc30a2 UTSW 4 134,071,529 (GRCm39) critical splice donor site probably null
R7138:Slc30a2 UTSW 4 134,071,429 (GRCm39) missense probably benign 0.00
R7275:Slc30a2 UTSW 4 134,076,581 (GRCm39) splice site probably null
R7289:Slc30a2 UTSW 4 134,071,524 (GRCm39) missense possibly damaging 0.69
R8015:Slc30a2 UTSW 4 134,074,761 (GRCm39) missense probably benign 0.01
R8359:Slc30a2 UTSW 4 134,076,690 (GRCm39) missense probably damaging 0.98
Z1176:Slc30a2 UTSW 4 134,071,400 (GRCm39) missense probably benign 0.00
Z1177:Slc30a2 UTSW 4 134,074,766 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAGACATCGTTGGTGGGATGAG -3'
(R):5'- AGCACAGACTCCTTCCCTTG -3'

Sequencing Primer
(F):5'- GAGACCCAGGCCCTGACTTTAC -3'
(R):5'- CCTTCCCTTGGGAGCTGATG -3'
Posted On 2019-05-13