Incidental Mutation 'R1861:Slc26a5'
ID 203897
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission 039884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1861 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22021956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 490 (D490G)
Ref Sequence ENSEMBL: ENSMUSP00000118029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect probably benign
Transcript: ENSMUST00000030878
AA Change: D522G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: D522G

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 probably benign
Transcript: ENSMUST00000115176
AA Change: D485G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: D485G

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: D490G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: D490G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150012
Meta Mutation Damage Score 0.2861 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (117/121)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik C A 9: 89,034,884 (GRCm39) noncoding transcript Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Actr1a T C 19: 46,372,714 (GRCm39) E87G probably damaging Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Alg2 T A 4: 47,471,670 (GRCm39) K379N probably benign Het
Alk G T 17: 72,181,933 (GRCm39) probably benign Het
Aopep A G 13: 63,163,597 (GRCm39) Y206C probably damaging Het
Arhgef17 A G 7: 100,531,475 (GRCm39) Y331H probably damaging Het
Art3 A G 5: 92,560,094 (GRCm39) probably benign Het
Asap1 G A 15: 64,007,647 (GRCm39) probably benign Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Atp8b5 G A 4: 43,372,906 (GRCm39) R1150H probably damaging Het
Bltp2 C T 11: 78,178,755 (GRCm39) probably benign Het
Brdt T C 5: 107,507,324 (GRCm39) S575P probably benign Het
Capn3 T A 2: 120,316,963 (GRCm39) probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc127 T G 13: 74,505,098 (GRCm39) H215Q possibly damaging Het
Cenpe T C 3: 134,974,740 (GRCm39) L2300P probably damaging Het
Clasp1 T C 1: 118,498,661 (GRCm39) F898L possibly damaging Het
Clcn1 C A 6: 42,290,925 (GRCm39) P933Q possibly damaging Het
Cntn3 T A 6: 102,222,032 (GRCm39) N489I probably benign Het
Col16a1 T C 4: 129,955,517 (GRCm39) probably benign Het
Col24a1 G A 3: 145,243,022 (GRCm39) probably null Het
Col8a2 C T 4: 126,205,417 (GRCm39) probably benign Het
Cpd T C 11: 76,675,208 (GRCm39) probably benign Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cyp2c40 T C 19: 39,775,319 (GRCm39) Y311C probably benign Het
Dennd5b T A 6: 148,969,760 (GRCm39) N231I probably damaging Het
Dgkh T A 14: 78,816,232 (GRCm39) H936L probably benign Het
Dmtf1 T C 5: 9,170,347 (GRCm39) probably null Het
Dnai2 T C 11: 114,643,777 (GRCm39) V481A possibly damaging Het
Dnai3 T C 3: 145,788,801 (GRCm39) Y260C probably damaging Het
Dpyd T G 3: 118,710,780 (GRCm39) V396G probably damaging Het
Elmo3 A G 8: 106,035,213 (GRCm39) D448G probably damaging Het
Emsy A T 7: 98,290,822 (GRCm39) V100E probably damaging Het
Erbb2 T C 11: 98,303,563 (GRCm39) probably null Het
Faah T C 4: 115,865,432 (GRCm39) K85R probably benign Het
Fam149a A T 8: 45,792,399 (GRCm39) Y686* probably null Het
Fat4 T C 3: 39,064,633 (GRCm39) V4863A probably benign Het
Fbxl8 A G 8: 105,995,561 (GRCm39) T358A probably damaging Het
Fcgbpl1 A G 7: 27,854,157 (GRCm39) Y1707C probably damaging Het
Fgfr3 A G 5: 33,887,090 (GRCm39) T165A probably damaging Het
Fnbp1l A T 3: 122,354,581 (GRCm39) H180Q probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gon4l T C 3: 88,802,794 (GRCm39) V1135A probably damaging Het
Gstcd G T 3: 132,688,868 (GRCm39) N627K probably damaging Het
Gtf2a1l G A 17: 89,022,382 (GRCm39) V458I probably damaging Het
Gtf3c3 T C 1: 54,477,997 (GRCm39) E26G possibly damaging Het
Hrct1 A T 4: 43,727,404 (GRCm39) T15S probably benign Het
Ift122 C A 6: 115,868,889 (GRCm39) R459S probably damaging Het
Irf1 T A 11: 53,665,183 (GRCm39) C187S possibly damaging Het
Kcnh7 A G 2: 62,607,736 (GRCm39) V615A probably damaging Het
Kif1c T C 11: 70,594,168 (GRCm39) S61P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Mark2 T C 19: 7,268,128 (GRCm39) D25G possibly damaging Het
Me2 T C 18: 73,918,785 (GRCm39) D432G probably benign Het
Mfap3 T C 11: 57,419,032 (GRCm39) V64A probably benign Het
Nadk2 T A 15: 9,108,399 (GRCm39) M416K probably benign Het
Ndufs1 C T 1: 63,186,576 (GRCm39) G631D probably benign Het
Nomo1 G A 7: 45,727,525 (GRCm39) V1055I probably benign Het
Nuggc T A 14: 65,879,450 (GRCm39) probably benign Het
Nwd2 T C 5: 63,962,197 (GRCm39) S594P probably damaging Het
Or13c3 T A 4: 52,856,373 (GRCm39) I47L probably benign Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or8c10 C T 9: 38,278,902 (GRCm39) S10L probably benign Het
Pakap A G 4: 57,709,468 (GRCm39) I138V probably damaging Het
Pcyt2 G A 11: 120,501,968 (GRCm39) P332S probably benign Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Phf14 A T 6: 11,987,610 (GRCm39) M630L probably benign Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Pif1 A T 9: 65,496,735 (GRCm39) I283F probably damaging Het
Pknox2 G A 9: 36,834,957 (GRCm39) H171Y probably damaging Het
Pramel17 A T 4: 101,694,135 (GRCm39) D249E probably benign Het
Prkg2 T A 5: 99,095,275 (GRCm39) D632V probably damaging Het
Prr29 G A 11: 106,266,264 (GRCm39) A6T probably damaging Het
Rims1 T A 1: 22,635,639 (GRCm39) Y114F probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scnn1b G A 7: 121,513,484 (GRCm39) C399Y probably damaging Het
Scp2 T C 4: 107,948,518 (GRCm39) Y153C probably damaging Het
Sema3d A G 5: 12,547,570 (GRCm39) K164R probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Siglecf A G 7: 43,001,648 (GRCm39) T153A probably benign Het
Skint2 T C 4: 112,504,315 (GRCm39) probably benign Het
Slc22a8 G A 19: 8,583,503 (GRCm39) R236H probably damaging Het
Slc25a40 T A 5: 8,492,431 (GRCm39) probably null Het
Slc26a7 G T 4: 14,522,873 (GRCm39) D482E probably benign Het
Smarca2 A T 19: 26,601,284 (GRCm39) M77L probably benign Het
Sos2 A G 12: 69,664,137 (GRCm39) L449P probably damaging Het
Spaca1 A G 4: 34,044,206 (GRCm39) V96A probably damaging Het
Spata31d1b T A 13: 59,865,150 (GRCm39) I766N possibly damaging Het
Specc1l T C 10: 75,145,693 (GRCm39) Y1113H probably damaging Het
Speg A G 1: 75,365,649 (GRCm39) R677G probably damaging Het
Taf5l A T 8: 124,724,729 (GRCm39) D363E probably damaging Het
Tex56 A T 13: 35,116,490 (GRCm39) I80F possibly damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Trrap T A 5: 144,752,727 (GRCm39) probably null Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ttn A T 2: 76,602,992 (GRCm39) I18410K probably benign Het
V1rd19 T A 7: 23,703,149 (GRCm39) V205D probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r95 T G 17: 18,672,530 (GRCm39) C756G probably damaging Het
Zc3h15 A G 2: 83,494,334 (GRCm39) T421A unknown Het
Zc3hc1 T C 6: 30,374,837 (GRCm39) T235A probably benign Het
Zcchc14 A G 8: 122,335,990 (GRCm39) probably benign Het
Zfp318 T A 17: 46,722,366 (GRCm39) N1456K possibly damaging Het
Zfp606 A G 7: 12,214,858 (GRCm39) probably benign Het
Zfp811 T A 17: 33,016,399 (GRCm39) H546L probably damaging Het
Zfp94 A T 7: 24,008,541 (GRCm39) Y33N probably damaging Het
Zfyve9 G T 4: 108,539,492 (GRCm39) probably benign 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
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
R9324:Slc26a5 UTSW 5 22,018,334 (GRCm39) missense possibly damaging 0.73
R9516:Slc26a5 UTSW 5 22,016,337 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCATGTTCTCAGCTTCAGTG -3'
(R):5'- GCCTCTCTGAGATCAGTAGGAC -3'

Sequencing Primer
(F):5'- GGTAGTTACCATACAGTATAGAGCAC -3'
(R):5'- TCTCTGAGATCAGTAGGACCTAGAC -3'
Posted On 2014-06-23