Incidental Mutation 'R7067:Slc30a2'
ID 548614
Institutional Source Beutler Lab
Gene Symbol Slc30a2
Ensembl Gene ENSMUSG00000028836
Gene Name solute carrier family 30 (zinc transporter), member 2
Synonyms Znt2
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R7067 (G1)
Quality Score 201.009
Status Validated
Chromosome 4
Chromosomal Location 134070492-134081795 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 134071529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105873] [ENSMUST00000105874]
AlphaFold Q2HJ10
Predicted Effect probably null
Transcript: ENSMUST00000081094
SMART Domains Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105872
SMART Domains Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105873
SMART Domains Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 74 311 3.1e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105874
SMART Domains Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 70 277 3.4e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Aebp1 A G 11: 5,816,431 (GRCm39) probably null Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging 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
R7053:Slc30a2 UTSW 4 134,074,726 (GRCm39) missense probably damaging 1.00
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
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'- GGATCCCTCCTGTGGACCTG -3'
(R):5'- CCTCAGTAGGGGCTCTTCTTA -3'

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