Incidental Mutation 'R5726:Slc12a2'
ID 452532
Institutional Source Beutler Lab
Gene Symbol Slc12a2
Ensembl Gene ENSMUSG00000024597
Gene Name solute carrier family 12, member 2
Synonyms sy-ns, Nkcc1, mBSC2, sodium/potassium/chloride cotransporters
MMRRC Submission 043344-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5726 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 58011750-58079893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58029426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 271 (A271S)
Ref Sequence ENSEMBL: ENSMUSP00000111023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115366]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115366
AA Change: A271S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: A271S

DomainStartEndE-ValueType
low complexity region 3 33 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
SCOP:d1gkub1 91 122 4e-3 SMART
low complexity region 141 162 N/A INTRINSIC
low complexity region 175 190 N/A INTRINSIC
Pfam:AA_permease_N 196 260 5.9e-29 PFAM
Pfam:AA_permease 284 787 4.1e-154 PFAM
Pfam:AA_permease_2 290 743 8.7e-22 PFAM
Pfam:SLC12 795 1206 2.7e-167 PFAM
Meta Mutation Damage Score 0.1026 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,835,832 (GRCm39) K254E probably damaging Het
Aak1 C T 6: 86,902,106 (GRCm39) Q92* probably null Het
Acss3 T C 10: 106,959,183 (GRCm39) T88A possibly damaging Het
Adcy4 A T 14: 56,021,118 (GRCm39) S6R probably damaging Het
Aldh1l2 T C 10: 83,348,170 (GRCm39) E311G possibly damaging Het
Arhgap25 C T 6: 87,440,441 (GRCm39) S402N probably benign Het
Btn1a1 T A 13: 23,643,522 (GRCm39) D309V probably damaging Het
Cdh23 C T 10: 60,243,259 (GRCm39) V1037M probably damaging Het
Clcn2 T C 16: 20,529,285 (GRCm39) probably benign Het
Cln3 T C 7: 126,174,673 (GRCm39) T276A probably null Het
CN725425 A G 15: 91,144,706 (GRCm39) E523G possibly damaging Het
Crppa T C 12: 36,597,829 (GRCm39) V320A probably damaging Het
Cspg4 A T 9: 56,793,188 (GRCm39) T308S probably damaging Het
Dgkh G T 14: 78,862,342 (GRCm39) F208L probably benign Het
Eif2ak4 A G 2: 118,273,613 (GRCm39) D846G probably damaging Het
Fmo4 A G 1: 162,635,828 (GRCm39) probably null Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Fxr2 T C 11: 69,524,172 (GRCm39) V10A probably benign Het
Gm10271 T C 10: 116,792,792 (GRCm39) probably null Het
Gsk3b T C 16: 38,028,498 (GRCm39) probably benign Het
Ift43 T A 12: 86,208,957 (GRCm39) D169E probably damaging Het
Ift57 T A 16: 49,519,861 (GRCm39) L54H probably damaging Het
Ighv1-37 T C 12: 114,860,294 (GRCm39) probably benign Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrp2 T C 2: 69,339,491 (GRCm39) D1140G probably damaging Het
Map1a G A 2: 121,135,546 (GRCm39) A1883T probably damaging Het
Map4k2 G T 19: 6,401,362 (GRCm39) G611C probably damaging Het
Mical1 A G 10: 41,359,692 (GRCm39) probably benign Het
Myh14 A G 7: 44,292,886 (GRCm39) probably null Het
Myh8 T A 11: 67,185,392 (GRCm39) V881D possibly damaging Het
Myo1g G T 11: 6,459,420 (GRCm39) Q817K probably benign Het
Nin A C 12: 70,124,953 (GRCm39) V123G probably damaging Het
Nup160 A G 2: 90,548,195 (GRCm39) D976G probably damaging Het
Nup210l A T 3: 90,036,514 (GRCm39) probably null Het
Or5an1c A G 19: 12,218,644 (GRCm39) I127T probably damaging Het
Phf14 T C 6: 11,933,537 (GRCm39) probably benign Het
Podxl2 T C 6: 88,825,721 (GRCm39) D400G probably damaging Het
Pygl C T 12: 70,237,916 (GRCm39) W707* probably null Het
Rnf19b T C 4: 128,965,685 (GRCm39) V261A possibly damaging Het
Rnf213 A G 11: 119,307,284 (GRCm39) Y648C probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sdk2 A G 11: 113,742,626 (GRCm39) L761P probably damaging Het
Shroom3 C T 5: 93,090,864 (GRCm39) P1124S probably benign Het
Sirt4 A G 5: 115,617,705 (GRCm39) V317A probably benign Het
Skic3 T C 13: 76,266,466 (GRCm39) Y238H probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Snap23 T A 2: 120,414,752 (GRCm39) probably benign Het
Sra1 C T 18: 36,803,226 (GRCm39) probably benign Het
Srbd1 C T 17: 86,428,157 (GRCm39) D359N possibly damaging Het
Srp19 A G 18: 34,464,826 (GRCm39) Y22C probably damaging Het
Sstr4 T C 2: 148,238,003 (GRCm39) S205P probably damaging Het
Sv2b T C 7: 74,773,962 (GRCm39) D503G possibly damaging Het
Tbc1d30 C T 10: 121,103,479 (GRCm39) V518M probably damaging Het
Tlr4 A G 4: 66,758,652 (GRCm39) K482E probably benign Het
Tpm1 G A 9: 66,930,694 (GRCm39) L310F probably damaging Het
Trpm6 A G 19: 18,830,981 (GRCm39) Y1282C probably damaging Het
Tsc22d1 T A 14: 76,742,757 (GRCm39) L65* probably null Het
Ttc39c C A 18: 12,830,992 (GRCm39) A284D probably damaging Het
Txndc16 G A 14: 45,403,221 (GRCm39) H297Y probably benign Het
Utrn A T 10: 12,545,550 (GRCm39) D1698E probably benign Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Vmn2r14 A T 5: 109,365,486 (GRCm39) D529E possibly damaging Het
Vmn2r70 C T 7: 85,208,315 (GRCm39) V721I probably damaging Het
Zbtb18 A G 1: 177,276,119 (GRCm39) H484R probably damaging Het
Zc3h13 T A 14: 75,568,269 (GRCm39) S1187R possibly damaging Het
Zfhx4 T A 3: 5,468,381 (GRCm39) D2846E probably benign Het
Other mutations in Slc12a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Slc12a2 APN 18 58,069,477 (GRCm39) missense probably damaging 1.00
IGL01099:Slc12a2 APN 18 58,039,092 (GRCm39) nonsense probably null
IGL01896:Slc12a2 APN 18 58,029,380 (GRCm39) missense probably benign 0.06
IGL02266:Slc12a2 APN 18 58,045,092 (GRCm39) splice site probably benign
IGL02489:Slc12a2 APN 18 58,045,074 (GRCm39) missense probably damaging 0.98
IGL02681:Slc12a2 APN 18 58,012,471 (GRCm39) missense probably benign 0.25
IGL03068:Slc12a2 APN 18 58,037,407 (GRCm39) splice site probably benign
IGL03076:Slc12a2 APN 18 58,059,469 (GRCm39) splice site probably benign
IGL03086:Slc12a2 APN 18 58,054,856 (GRCm39) missense probably benign 0.00
IGL03238:Slc12a2 APN 18 58,047,306 (GRCm39) missense possibly damaging 0.85
frankie UTSW 18 58,068,035 (GRCm39) missense possibly damaging 0.48
honeylamb UTSW 18 58,063,238 (GRCm39) missense probably damaging 1.00
sugar UTSW 18 58,032,344 (GRCm39) missense probably damaging 1.00
R0048:Slc12a2 UTSW 18 58,048,594 (GRCm39) splice site probably benign
R0194:Slc12a2 UTSW 18 58,063,283 (GRCm39) missense probably damaging 1.00
R0530:Slc12a2 UTSW 18 58,052,608 (GRCm39) missense possibly damaging 0.76
R0959:Slc12a2 UTSW 18 58,037,450 (GRCm39) missense probably damaging 1.00
R1014:Slc12a2 UTSW 18 58,054,882 (GRCm39) missense probably benign 0.00
R1112:Slc12a2 UTSW 18 58,070,824 (GRCm39) missense probably benign 0.01
R1544:Slc12a2 UTSW 18 58,012,374 (GRCm39) missense probably benign 0.00
R1669:Slc12a2 UTSW 18 58,037,307 (GRCm39) missense probably damaging 0.99
R1935:Slc12a2 UTSW 18 58,037,425 (GRCm39) missense possibly damaging 0.95
R1951:Slc12a2 UTSW 18 58,012,467 (GRCm39) missense possibly damaging 0.51
R1990:Slc12a2 UTSW 18 58,043,358 (GRCm39) missense possibly damaging 0.61
R2340:Slc12a2 UTSW 18 58,033,122 (GRCm39) missense probably benign 0.03
R3971:Slc12a2 UTSW 18 58,063,268 (GRCm39) missense possibly damaging 0.84
R4120:Slc12a2 UTSW 18 58,032,427 (GRCm39) missense possibly damaging 0.95
R4223:Slc12a2 UTSW 18 58,043,328 (GRCm39) missense probably damaging 1.00
R4541:Slc12a2 UTSW 18 58,046,037 (GRCm39) splice site probably null
R4678:Slc12a2 UTSW 18 58,039,032 (GRCm39) nonsense probably null
R4931:Slc12a2 UTSW 18 58,068,035 (GRCm39) missense possibly damaging 0.48
R5114:Slc12a2 UTSW 18 58,032,344 (GRCm39) missense probably damaging 1.00
R5226:Slc12a2 UTSW 18 58,012,092 (GRCm39) missense probably damaging 1.00
R5648:Slc12a2 UTSW 18 58,029,382 (GRCm39) missense possibly damaging 0.83
R5789:Slc12a2 UTSW 18 58,045,091 (GRCm39) splice site probably null
R5868:Slc12a2 UTSW 18 58,077,068 (GRCm39) missense probably damaging 1.00
R5921:Slc12a2 UTSW 18 58,065,595 (GRCm39) missense probably benign 0.06
R6126:Slc12a2 UTSW 18 58,077,116 (GRCm39) missense possibly damaging 0.94
R6310:Slc12a2 UTSW 18 58,048,578 (GRCm39) missense probably damaging 0.99
R6598:Slc12a2 UTSW 18 58,031,145 (GRCm39) missense probably benign 0.01
R6615:Slc12a2 UTSW 18 58,031,200 (GRCm39) missense probably damaging 1.00
R6911:Slc12a2 UTSW 18 58,052,541 (GRCm39) missense probably benign 0.05
R6957:Slc12a2 UTSW 18 58,043,344 (GRCm39) nonsense probably null
R7411:Slc12a2 UTSW 18 58,074,085 (GRCm39) missense probably benign 0.01
R7508:Slc12a2 UTSW 18 58,037,465 (GRCm39) missense probably benign 0.01
R7645:Slc12a2 UTSW 18 58,029,450 (GRCm39) missense possibly damaging 0.94
R7658:Slc12a2 UTSW 18 58,065,596 (GRCm39) missense probably benign 0.02
R8054:Slc12a2 UTSW 18 58,054,944 (GRCm39) nonsense probably null
R8093:Slc12a2 UTSW 18 58,012,423 (GRCm39) missense probably benign 0.17
R8099:Slc12a2 UTSW 18 58,032,464 (GRCm39) missense probably damaging 0.99
R8121:Slc12a2 UTSW 18 58,032,403 (GRCm39) missense probably benign 0.44
R8214:Slc12a2 UTSW 18 58,070,791 (GRCm39) missense probably benign 0.29
R8273:Slc12a2 UTSW 18 58,047,338 (GRCm39) splice site probably benign
R8341:Slc12a2 UTSW 18 58,012,281 (GRCm39) missense possibly damaging 0.48
R8485:Slc12a2 UTSW 18 58,074,218 (GRCm39) critical splice donor site probably null
R8797:Slc12a2 UTSW 18 58,012,455 (GRCm39) missense possibly damaging 0.80
R9049:Slc12a2 UTSW 18 58,054,863 (GRCm39) nonsense probably null
R9180:Slc12a2 UTSW 18 58,069,469 (GRCm39) missense possibly damaging 0.83
R9256:Slc12a2 UTSW 18 58,074,867 (GRCm39) missense probably damaging 1.00
R9337:Slc12a2 UTSW 18 58,063,238 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTCACGTCACTCTTGGAAG -3'
(R):5'- GGCCTTCCATAGTACTCACAAGC -3'

Sequencing Primer
(F):5'- TTGCTGGACATTGAACCCAG -3'
(R):5'- CTTCCATAGTACTCACAAGCAAATTG -3'
Posted On 2017-01-03