Incidental Mutation 'R5241:Bsnd'
ID 400808
Institutional Source Beutler Lab
Gene Symbol Bsnd
Ensembl Gene ENSMUSG00000025418
Gene Name barttin CLCNK type accessory beta subunit
Synonyms Bartter syndrome, infantile, with sensorineural deafness (Barttin)
MMRRC Submission 042812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5241 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 106340653-106349440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106345182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000049563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054472]
AlphaFold Q8VIM4
Predicted Effect probably benign
Transcript: ENSMUST00000054472
AA Change: V88A

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: V88A

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Barttin 27 241 5.2e-110 PFAM
low complexity region 273 280 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930033H14Rik A G 10: 69,048,581 (GRCm39) probably null Het
Adgrb3 T C 1: 25,150,871 (GRCm39) T881A possibly damaging Het
Adgrv1 A T 13: 81,637,048 (GRCm39) C3464* probably null Het
Afp A G 5: 90,649,473 (GRCm39) M347V probably benign Het
Apc2 A G 10: 80,148,068 (GRCm39) T1041A probably benign Het
Atl1 T C 12: 70,005,887 (GRCm39) S398P possibly damaging Het
Atp8b4 G A 2: 126,225,646 (GRCm39) P528L probably benign Het
Bahcc1 C A 11: 120,162,229 (GRCm39) P176T probably damaging Het
Dnah7c T A 1: 46,569,660 (GRCm39) F687Y probably benign Het
Dok6 T C 18: 89,616,913 (GRCm39) I23M possibly damaging Het
Fcgbp A T 7: 27,784,624 (GRCm39) D228V probably damaging Het
Gatad2a G A 8: 70,370,667 (GRCm39) Q107* probably null Het
Glis3 G T 19: 28,327,423 (GRCm39) T663K probably benign Het
Gm10784 T A 13: 50,099,129 (GRCm39) noncoding transcript Het
Gsdmc2 C T 15: 63,696,743 (GRCm39) R476H probably benign Het
Gsdmc3 A G 15: 63,735,995 (GRCm39) S202P possibly damaging Het
Map3k8 T C 18: 4,340,750 (GRCm39) E188G probably damaging Het
Mccc1 T A 3: 36,028,345 (GRCm39) Q487L probably benign Het
Msantd1 A G 5: 35,078,813 (GRCm39) D116G probably damaging Het
Myh1 T A 11: 67,095,275 (GRCm39) S212T probably benign Het
Nr1h4 A G 10: 89,319,351 (GRCm39) Y158H probably damaging Het
Or4p19 T C 2: 88,242,442 (GRCm39) T187A possibly damaging Het
Or51f1e T C 7: 102,747,524 (GRCm39) V192A probably benign Het
Or6k8-ps1 T A 1: 173,979,667 (GRCm39) I195N probably benign Het
Pcnt A T 10: 76,269,451 (GRCm39) H272Q probably benign Het
Pdia5 T C 16: 35,250,145 (GRCm39) N242S probably benign Het
Pkd1l2 A T 8: 117,761,857 (GRCm39) D1441E probably damaging Het
Runx2 G T 17: 44,950,664 (GRCm39) Y203* probably null Het
Sdr9c7 T G 10: 127,745,659 (GRCm39) I257S probably benign Het
Slitrk1 A G 14: 109,150,444 (GRCm39) M89T probably benign Het
St14 G T 9: 31,011,714 (GRCm39) C397* probably null Het
Tas2r123 T C 6: 132,824,181 (GRCm39) I26T probably benign Het
Tmem144 A T 3: 79,721,431 (GRCm39) M329K probably benign Het
Tmem252 T C 19: 24,651,491 (GRCm39) M20T probably benign Het
Umodl1 T C 17: 31,203,066 (GRCm39) V473A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Xirp2 C T 2: 67,312,704 (GRCm39) R58* probably null Het
Zer1 A C 2: 29,994,982 (GRCm39) L471R probably damaging Het
Zfp101 C T 17: 33,601,210 (GRCm39) C182Y probably benign Het
Other mutations in Bsnd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03220:Bsnd APN 4 106,343,962 (GRCm39) missense possibly damaging 0.58
IGL02802:Bsnd UTSW 4 106,349,231 (GRCm39) missense probably damaging 1.00
R1327:Bsnd UTSW 4 106,343,809 (GRCm39) missense probably benign 0.08
R1869:Bsnd UTSW 4 106,343,833 (GRCm39) missense probably benign 0.03
R1912:Bsnd UTSW 4 106,345,227 (GRCm39) nonsense probably null
R4294:Bsnd UTSW 4 106,342,355 (GRCm39) missense probably benign 0.01
R4411:Bsnd UTSW 4 106,343,868 (GRCm39) missense probably benign
R5733:Bsnd UTSW 4 106,345,198 (GRCm39) missense probably benign 0.08
R6274:Bsnd UTSW 4 106,343,832 (GRCm39) missense probably damaging 0.96
R6483:Bsnd UTSW 4 106,345,212 (GRCm39) missense probably damaging 0.99
R7153:Bsnd UTSW 4 106,349,230 (GRCm39) missense probably benign 0.09
R7184:Bsnd UTSW 4 106,349,109 (GRCm39) missense probably damaging 1.00
X0023:Bsnd UTSW 4 106,342,614 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACCTACGATTTCAAAGAGTGTG -3'
(R):5'- CCTTCCGCTGTACAATGCAG -3'

Sequencing Primer
(F):5'- CCTACGATTTCAAAGAGTGTGTTCTC -3'
(R):5'- CTTCCGCTGTACAATGCAGAAAAGG -3'
Posted On 2016-07-06