Incidental Mutation 'R9324:Slc26a5'
ID 706371
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9324 (G1)
Quality Score 207.009
Status Not validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22018334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 677 (A677E)
Ref Sequence ENSEMBL: ENSMUSP00000030878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030878
AA Change: A677E

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: A677E

DomainStartEndE-ValueType
Pfam:Sulfate_transp 80 475 3.3e-109 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Pfam:STAS 526 709 3.3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115176
AA Change: A640E

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: A640E

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 106 5.2e-9 PFAM
Pfam:Sulfate_transp 156 434 1.6e-65 PFAM
transmembrane domain 439 461 N/A INTRINSIC
Pfam:STAS 489 672 1.5e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127975
AA Change: A645E

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: A645E

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 148 4.3e-33 PFAM
Pfam:Sulfate_transp 193 440 8.9e-56 PFAM
transmembrane domain 447 469 N/A INTRINSIC
Pfam:STAS 494 677 4.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142888
SMART Domains Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 148 2.1e-33 PFAM
Pfam:Sulfate_transp 193 441 9.6e-49 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
PHENOTYPE: Cochlear sensitivity is decreased in mutant due to a loss of outer hair cell electromotility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,179,856 (GRCm39) H358R probably benign Het
Arid3c A G 4: 41,730,138 (GRCm39) L19S possibly damaging Het
Arpp21 T A 9: 111,986,765 (GRCm39) D262V probably damaging Het
Atp4a A C 7: 30,415,207 (GRCm39) I276L probably benign Het
Axl C G 7: 25,460,982 (GRCm39) E676Q probably damaging Het
Ces1g T C 8: 94,055,118 (GRCm39) D193G probably damaging Het
Crym A G 7: 119,789,005 (GRCm39) V274A probably damaging Het
Efcab5 T A 11: 77,004,546 (GRCm39) H924L possibly damaging Het
Eif1ad7 T A 12: 88,238,709 (GRCm39) N17I unknown Het
Eif3l T A 15: 78,978,423 (GRCm39) M560K probably benign Het
Fam234b C A 6: 135,202,793 (GRCm39) Y382* probably null Het
Fbxw19 T C 9: 109,313,440 (GRCm39) K253E possibly damaging Het
Fhip1a T C 3: 85,638,053 (GRCm39) D82G probably benign Het
Flt3 A G 5: 147,313,790 (GRCm39) S87P probably benign Het
Garin3 A T 11: 46,295,810 (GRCm39) I61F Het
Ggnbp2 A G 11: 84,725,174 (GRCm39) L627S probably damaging Het
Gm26661 T G 14: 7,791,765 (GRCm38) V60G unknown Het
Golt1a T C 1: 133,247,094 (GRCm39) L34P probably damaging Het
Gp5 T C 16: 30,127,808 (GRCm39) M289V possibly damaging Het
Gpr63 C G 4: 25,008,432 (GRCm39) H385Q possibly damaging Het
Hcn1 G A 13: 118,111,901 (GRCm39) V622I unknown Het
Hipk4 A G 7: 27,228,834 (GRCm39) D428G probably damaging Het
Hs3st1 T C 5: 39,772,145 (GRCm39) Y166C probably damaging Het
Hsd17b3 A G 13: 64,206,459 (GRCm39) F281S possibly damaging Het
Ifih1 T C 2: 62,475,950 (GRCm39) T109A probably benign Het
Ighv1-64 T A 12: 115,471,645 (GRCm39) probably benign Het
Ina T C 19: 47,003,816 (GRCm39) L208P Het
Iqcn C T 8: 71,161,794 (GRCm39) T329I possibly damaging Het
Irak2 T C 6: 113,615,604 (GRCm39) probably null Het
Klhl10 G A 11: 100,338,481 (GRCm39) E407K probably benign Het
Krt81 A G 15: 101,361,335 (GRCm39) S82P probably damaging Het
Ktn1 C A 14: 47,948,353 (GRCm39) Q963K probably benign Het
Lgalsl2 G A 7: 5,362,527 (GRCm39) V53I possibly damaging Het
Lrrc42 A T 4: 107,104,913 (GRCm39) Y17* probably null Het
Lrrc9 A C 12: 72,496,171 (GRCm39) E15D probably damaging Het
Mak G A 13: 41,202,839 (GRCm39) T203I probably benign Het
Masp2 T C 4: 148,692,485 (GRCm39) V326A possibly damaging Het
Mdc1 T C 17: 36,164,258 (GRCm39) S1269P probably benign Het
Mink1 G A 11: 70,502,477 (GRCm39) V1027M probably damaging Het
Mrps10 C A 17: 47,686,903 (GRCm39) S123* probably null Het
Myl10 C T 5: 136,729,787 (GRCm39) H142Y probably damaging Het
Ncan T C 8: 70,560,648 (GRCm39) Q773R possibly damaging Het
Nlrp3 T A 11: 59,434,141 (GRCm39) M68K probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Odad3 T C 9: 21,903,207 (GRCm39) E402G probably damaging Het
Or4p22 C T 2: 88,317,787 (GRCm39) T237I probably damaging Het
Or5an1 A G 19: 12,260,939 (GRCm39) R176G probably benign Het
Or8c8 A G 9: 38,164,962 (GRCm39) K80R probably benign Het
Phldb2 A G 16: 45,595,437 (GRCm39) V830A probably damaging Het
Phospho2 T C 2: 69,625,913 (GRCm39) V23A probably damaging Het
Plxnc1 G A 10: 94,780,685 (GRCm39) probably benign Het
Ppcdc T C 9: 57,342,280 (GRCm39) E14G probably benign Het
Ralgapa2 T C 2: 146,302,645 (GRCm39) Y106C probably damaging Het
Rgs22 T C 15: 36,087,544 (GRCm39) Q582R probably benign Het
Rngtt T A 4: 33,320,613 (GRCm39) Y53* probably null Het
Slc12a3 T G 8: 95,083,028 (GRCm39) probably null Het
Slc26a11 A G 11: 119,267,730 (GRCm39) T456A probably benign Het
Smurf1 T C 5: 144,817,463 (GRCm39) T690A probably benign Het
Spata24 A T 18: 35,790,064 (GRCm39) N142K probably damaging Het
Ubqlnl A T 7: 103,798,962 (GRCm39) N178K possibly damaging Het
Uggt2 A G 14: 119,312,741 (GRCm39) probably null Het
Vmn1r2 C A 4: 3,172,678 (GRCm39) A199D probably damaging Het
Vmn2r39 T C 7: 9,030,684 (GRCm39) N128S probably damaging Het
Vmn2r61 G T 7: 41,916,619 (GRCm39) V411F probably benign Het
Vmn2r-ps117 T A 17: 19,042,911 (GRCm39) F106L probably benign Het
Zfp503 A T 14: 22,035,353 (GRCm39) I521N possibly damaging Het
Zfp831 T C 2: 174,547,113 (GRCm39) V1432A probably benign Het
Zfp981 T A 4: 146,619,884 (GRCm39) L13I possibly damaging Het
Other mutations in Slc26a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Slc26a5 APN 5 22,020,734 (GRCm39) missense probably damaging 1.00
IGL02486:Slc26a5 APN 5 22,051,323 (GRCm39) missense probably damaging 1.00
IGL02639:Slc26a5 APN 5 22,024,765 (GRCm39) missense probably damaging 1.00
IGL02810:Slc26a5 APN 5 22,018,381 (GRCm39) splice site probably benign
R0002:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R0002:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R0089:Slc26a5 UTSW 5 22,016,342 (GRCm39) splice site probably null
R0136:Slc26a5 UTSW 5 22,039,345 (GRCm39) missense probably damaging 1.00
R0212:Slc26a5 UTSW 5 22,028,547 (GRCm39) nonsense probably null
R0522:Slc26a5 UTSW 5 22,051,343 (GRCm39) missense probably damaging 0.96
R0557:Slc26a5 UTSW 5 22,024,762 (GRCm39) missense probably damaging 1.00
R0711:Slc26a5 UTSW 5 22,052,230 (GRCm39) missense probably damaging 1.00
R0959:Slc26a5 UTSW 5 22,021,959 (GRCm39) missense probably benign 0.01
R1214:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R1471:Slc26a5 UTSW 5 22,021,962 (GRCm39) missense probably benign 0.12
R1647:Slc26a5 UTSW 5 22,018,974 (GRCm39) nonsense probably null
R1648:Slc26a5 UTSW 5 22,018,974 (GRCm39) nonsense probably null
R1861:Slc26a5 UTSW 5 22,021,956 (GRCm39) missense possibly damaging 0.93
R1875:Slc26a5 UTSW 5 22,020,725 (GRCm39) missense probably benign 0.03
R2106:Slc26a5 UTSW 5 22,028,542 (GRCm39) missense probably damaging 1.00
R2169:Slc26a5 UTSW 5 22,018,863 (GRCm39) missense probably damaging 1.00
R2219:Slc26a5 UTSW 5 22,028,476 (GRCm39) missense probably damaging 1.00
R2276:Slc26a5 UTSW 5 22,028,545 (GRCm39) missense probably benign 0.39
R2281:Slc26a5 UTSW 5 22,036,508 (GRCm39) missense possibly damaging 0.94
R2325:Slc26a5 UTSW 5 22,024,692 (GRCm39) missense probably damaging 1.00
R4031:Slc26a5 UTSW 5 22,052,189 (GRCm39) missense probably damaging 1.00
R4793:Slc26a5 UTSW 5 22,042,992 (GRCm39) missense probably damaging 1.00
R4941:Slc26a5 UTSW 5 22,025,384 (GRCm39) missense probably damaging 1.00
R5122:Slc26a5 UTSW 5 22,052,194 (GRCm39) missense probably damaging 1.00
R5274:Slc26a5 UTSW 5 22,018,899 (GRCm39) missense possibly damaging 0.74
R5312:Slc26a5 UTSW 5 22,052,258 (GRCm39) missense probably damaging 0.99
R5628:Slc26a5 UTSW 5 22,021,974 (GRCm39) missense probably benign 0.20
R5806:Slc26a5 UTSW 5 22,028,561 (GRCm39) missense probably damaging 1.00
R6227:Slc26a5 UTSW 5 22,026,095 (GRCm39) missense probably damaging 1.00
R6525:Slc26a5 UTSW 5 22,025,348 (GRCm39) missense possibly damaging 0.77
R6609:Slc26a5 UTSW 5 22,024,717 (GRCm39) missense possibly damaging 0.93
R6885:Slc26a5 UTSW 5 22,039,342 (GRCm39) missense probably damaging 1.00
R6974:Slc26a5 UTSW 5 22,045,570 (GRCm39) missense probably damaging 1.00
R7001:Slc26a5 UTSW 5 22,016,334 (GRCm39) missense probably damaging 1.00
R7027:Slc26a5 UTSW 5 22,021,972 (GRCm39) missense possibly damaging 0.60
R7174:Slc26a5 UTSW 5 22,018,892 (GRCm39) missense probably damaging 1.00
R7184:Slc26a5 UTSW 5 22,042,244 (GRCm39) nonsense probably null
R7650:Slc26a5 UTSW 5 22,039,328 (GRCm39) missense possibly damaging 0.96
R8431:Slc26a5 UTSW 5 22,018,904 (GRCm39) missense probably damaging 1.00
R8812:Slc26a5 UTSW 5 22,018,880 (GRCm39) missense probably damaging 1.00
R9184:Slc26a5 UTSW 5 22,018,880 (GRCm39) missense probably damaging 1.00
R9215:Slc26a5 UTSW 5 22,042,285 (GRCm39) missense possibly damaging 0.93
R9281:Slc26a5 UTSW 5 22,019,051 (GRCm39) missense probably benign 0.39
R9516:Slc26a5 UTSW 5 22,016,337 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGGGCTGCACAGTGATTTTG -3'
(R):5'- TTGTCAGCACGGAAACCAGG -3'

Sequencing Primer
(F):5'- CTGCACAGTGATTTTGTTTTTAGAAG -3'
(R):5'- CAGGTAAGTACAAAATCACTCTTAGC -3'
Posted On 2022-04-18