Incidental Mutation 'R3971:Slc12a2'
ID 310999
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 040839-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3971 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 58011750-58079893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58063268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 916 (L916Q)
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: L916Q

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: L916Q

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 0.7642 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
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
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Aunip A G 4: 134,250,780 (GRCm39) K242E possibly damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Cd72 C T 4: 43,449,491 (GRCm39) R275H probably damaging Het
Chrnb1 A G 11: 69,683,742 (GRCm39) probably benign Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Zfp993 A G 4: 146,742,089 (GRCm39) T138A 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
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
R5726:Slc12a2 UTSW 18 58,029,426 (GRCm39) missense probably benign 0.01
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'- GGTGGGATTAGGACCTAACATG -3'
(R):5'- ATTAGGCACAACTTTCTAACCAAG -3'

Sequencing Primer
(F):5'- GGGATTAGGACCTAACATGATTCATC -3'
(R):5'- CATGGCTCTAGCTGCACATGTAG -3'
Posted On 2015-04-29