Incidental Mutation 'IGL03238:Slc12a2'
ID 414166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a2
Ensembl Gene ENSMUSG00000024597
Gene Name solute carrier family 12, member 2
Synonyms Nkcc1, sy-ns, mBSC2, sodium/potassium/chloride cotransporters
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03238
Quality Score
Status
Chromosome 18
Chromosomal Location 57878678-57946821 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57914234 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 740 (Y740H)
Ref Sequence ENSEMBL: ENSMUSP00000111023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115366]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000115366
AA Change: Y740H

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: Y740H

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
Coding Region Coverage
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 60,024,918 T285P probably benign Het
Abcf1 T C 17: 35,963,323 K186E probably damaging Het
Adam3 T C 8: 24,687,965 probably null Het
Art1 T C 7: 102,110,749 V85A possibly damaging Het
Ccdc110 A G 8: 45,941,822 H250R probably benign Het
Cyp3a13 T A 5: 137,898,889 I388F probably damaging Het
Dnah11 C T 12: 118,109,898 V1425M probably damaging Het
Donson G A 16: 91,681,246 Q22* probably null Het
Eif2b2 A G 12: 85,223,399 T238A probably benign Het
Emc2 T A 15: 43,507,853 probably null Het
Fkbp4 A T 6: 128,434,757 V123E probably damaging Het
Frem2 A T 3: 53,656,261 M275K possibly damaging Het
Gcat T A 15: 79,036,010 probably benign Het
Gemin2 G A 12: 59,016,962 probably benign Het
Ilf3 T A 9: 21,392,350 V169E probably damaging Het
Klra17 T C 6: 129,868,810 H147R probably benign Het
Lama5 A G 2: 180,188,574 I1880T probably benign Het
Lzts1 T C 8: 69,138,794 D234G probably damaging Het
Map3k4 G A 17: 12,271,158 P462L probably benign Het
March6 C A 15: 31,461,941 probably benign Het
Mcm6 A T 1: 128,355,520 F83I probably benign Het
Mtpn A G 6: 35,522,773 L32P probably damaging Het
Mybpc3 A T 2: 91,131,659 I841F probably damaging Het
Ndst2 G T 14: 20,728,504 H399N probably damaging Het
Npat G T 9: 53,570,426 V1145F probably damaging Het
Olfr65 G A 7: 103,906,510 A21T probably benign Het
P2ry1 T A 3: 61,004,495 S352T probably damaging Het
Plaa T C 4: 94,583,896 T326A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Prpmp5 T A 6: 132,312,345 Q172L unknown Het
Setd1a C T 7: 127,785,546 T523I possibly damaging Het
Sgcz C T 8: 37,563,140 probably null Het
Stab2 A G 10: 86,855,121 C745R probably damaging Het
Tmem101 A T 11: 102,155,785 L86Q probably damaging Het
Tmtc3 A C 10: 100,477,840 F57V probably damaging Het
Vps50 A G 6: 3,594,771 K778R possibly damaging Het
Washc5 G A 15: 59,346,842 T692M probably damaging Het
Zc3hav1 A T 6: 38,332,750 V379D probably damaging Het
Zfp142 G T 1: 74,576,278 R459S probably benign Het
Zfp512b A G 2: 181,589,760 V199A probably damaging Het
Other mutations in Slc12a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Slc12a2 APN 18 57936405 missense probably damaging 1.00
IGL01099:Slc12a2 APN 18 57906020 nonsense probably null
IGL01896:Slc12a2 APN 18 57896308 missense probably benign 0.06
IGL02266:Slc12a2 APN 18 57912020 splice site probably benign
IGL02489:Slc12a2 APN 18 57912002 missense probably damaging 0.98
IGL02681:Slc12a2 APN 18 57879399 missense probably benign 0.25
IGL03068:Slc12a2 APN 18 57904335 splice site probably benign
IGL03076:Slc12a2 APN 18 57926397 splice site probably benign
IGL03086:Slc12a2 APN 18 57921784 missense probably benign 0.00
frankie UTSW 18 57934963 missense possibly damaging 0.48
honeylamb UTSW 18 57930166 missense probably damaging 1.00
sugar UTSW 18 57899272 missense probably damaging 1.00
R0048:Slc12a2 UTSW 18 57915522 splice site probably benign
R0194:Slc12a2 UTSW 18 57930211 missense probably damaging 1.00
R0530:Slc12a2 UTSW 18 57919536 missense possibly damaging 0.76
R0959:Slc12a2 UTSW 18 57904378 missense probably damaging 1.00
R1014:Slc12a2 UTSW 18 57921810 missense probably benign 0.00
R1112:Slc12a2 UTSW 18 57937752 missense probably benign 0.01
R1544:Slc12a2 UTSW 18 57879302 missense probably benign 0.00
R1669:Slc12a2 UTSW 18 57904235 missense probably damaging 0.99
R1935:Slc12a2 UTSW 18 57904353 missense possibly damaging 0.95
R1951:Slc12a2 UTSW 18 57879395 missense possibly damaging 0.51
R1990:Slc12a2 UTSW 18 57910286 missense possibly damaging 0.61
R2340:Slc12a2 UTSW 18 57900050 missense probably benign 0.03
R3971:Slc12a2 UTSW 18 57930196 missense possibly damaging 0.84
R4120:Slc12a2 UTSW 18 57899355 missense possibly damaging 0.95
R4223:Slc12a2 UTSW 18 57910256 missense probably damaging 1.00
R4541:Slc12a2 UTSW 18 57912965 splice site probably null
R4678:Slc12a2 UTSW 18 57905960 nonsense probably null
R4931:Slc12a2 UTSW 18 57934963 missense possibly damaging 0.48
R5114:Slc12a2 UTSW 18 57899272 missense probably damaging 1.00
R5226:Slc12a2 UTSW 18 57879020 missense probably damaging 1.00
R5648:Slc12a2 UTSW 18 57896310 missense possibly damaging 0.83
R5726:Slc12a2 UTSW 18 57896354 missense probably benign 0.01
R5789:Slc12a2 UTSW 18 57912019 splice site probably null
R5868:Slc12a2 UTSW 18 57943996 missense probably damaging 1.00
R5921:Slc12a2 UTSW 18 57932523 missense probably benign 0.06
R6126:Slc12a2 UTSW 18 57944044 missense possibly damaging 0.94
R6310:Slc12a2 UTSW 18 57915506 missense probably damaging 0.99
R6598:Slc12a2 UTSW 18 57898073 missense probably benign 0.01
R6615:Slc12a2 UTSW 18 57898128 missense probably damaging 1.00
R6911:Slc12a2 UTSW 18 57919469 missense probably benign 0.05
R6957:Slc12a2 UTSW 18 57910272 nonsense probably null
R7411:Slc12a2 UTSW 18 57941013 missense probably benign 0.01
R7508:Slc12a2 UTSW 18 57904393 missense probably benign 0.01
R7645:Slc12a2 UTSW 18 57896378 missense possibly damaging 0.94
R7658:Slc12a2 UTSW 18 57932524 missense probably benign 0.02
R8054:Slc12a2 UTSW 18 57921872 nonsense probably null
R8093:Slc12a2 UTSW 18 57879351 missense probably benign 0.17
R8099:Slc12a2 UTSW 18 57899392 missense probably damaging 0.99
R8121:Slc12a2 UTSW 18 57899331 missense probably benign 0.44
R8214:Slc12a2 UTSW 18 57937719 missense probably benign 0.29
R8273:Slc12a2 UTSW 18 57914266 splice site probably benign
R8341:Slc12a2 UTSW 18 57879209 missense possibly damaging 0.48
R8485:Slc12a2 UTSW 18 57941146 critical splice donor site probably null
R8797:Slc12a2 UTSW 18 57879383 missense possibly damaging 0.80
R9049:Slc12a2 UTSW 18 57921791 nonsense probably null
R9180:Slc12a2 UTSW 18 57936397 missense possibly damaging 0.83
R9256:Slc12a2 UTSW 18 57941795 missense probably damaging 1.00
R9337:Slc12a2 UTSW 18 57930166 missense probably damaging 1.00
Posted On 2016-08-02