Incidental Mutation 'R2964:Slc4a5'
ID 255968
Institutional Source Beutler Lab
Gene Symbol Slc4a5
Ensembl Gene ENSMUSG00000068323
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 5
Synonyms C330016K18Rik
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R2964 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83196810-83281927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83273651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 997 (T997I)
Ref Sequence ENSEMBL: ENSMUSP00000109533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039212] [ENSMUST00000113899] [ENSMUST00000113900]
AlphaFold E9Q3M5
Predicted Effect probably damaging
Transcript: ENSMUST00000039212
AA Change: T882I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: T882I

DomainStartEndE-ValueType
Pfam:Band_3_cyto 25 292 5.2e-102 PFAM
low complexity region 321 350 N/A INTRINSIC
Pfam:HCO3_cotransp 364 884 1.1e-242 PFAM
transmembrane domain 891 913 N/A INTRINSIC
low complexity region 936 951 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113899
AA Change: T882I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: T882I

DomainStartEndE-ValueType
Pfam:Band_3_cyto 25 292 2.9e-102 PFAM
low complexity region 321 350 N/A INTRINSIC
Pfam:HCO3_cotransp 364 884 5.3e-243 PFAM
transmembrane domain 891 913 N/A INTRINSIC
low complexity region 936 951 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113900
AA Change: T997I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: T997I

DomainStartEndE-ValueType
Pfam:Band_3_cyto 140 407 3.4e-106 PFAM
low complexity region 436 465 N/A INTRINSIC
Pfam:HCO3_cotransp 480 999 1.6e-224 PFAM
transmembrane domain 1006 1028 N/A INTRINSIC
low complexity region 1051 1066 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131432
Meta Mutation Damage Score 0.9435 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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 sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arterial hypertension and renal metabolic acidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dbi C T 1: 120,047,846 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Hrh4 T C 18: 13,155,426 (GRCm39) C322R probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pigr G A 1: 130,769,272 (GRCm39) V28M probably damaging Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign Het
Other mutations in Slc4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Slc4a5 APN 6 83,262,881 (GRCm39) missense probably damaging 1.00
IGL00473:Slc4a5 APN 6 83,273,579 (GRCm39) missense probably damaging 1.00
IGL00861:Slc4a5 APN 6 83,276,453 (GRCm39) missense probably benign
IGL01025:Slc4a5 APN 6 83,239,515 (GRCm39) missense probably damaging 0.98
IGL01532:Slc4a5 APN 6 83,250,022 (GRCm39) splice site probably null
IGL01991:Slc4a5 APN 6 83,240,525 (GRCm39) missense possibly damaging 0.94
IGL02271:Slc4a5 APN 6 83,248,085 (GRCm39) splice site probably benign
IGL02565:Slc4a5 APN 6 83,276,487 (GRCm39) missense probably benign 0.00
IGL02669:Slc4a5 APN 6 83,240,525 (GRCm39) missense possibly damaging 0.79
IGL02994:Slc4a5 APN 6 83,249,106 (GRCm39) missense probably damaging 1.00
IGL03259:Slc4a5 APN 6 83,247,979 (GRCm39) missense probably damaging 1.00
IGL03264:Slc4a5 APN 6 83,238,507 (GRCm39) missense probably damaging 1.00
R0032:Slc4a5 UTSW 6 83,250,139 (GRCm39) missense probably damaging 1.00
R0091:Slc4a5 UTSW 6 83,254,537 (GRCm39) missense probably benign 0.00
R0281:Slc4a5 UTSW 6 83,244,549 (GRCm39) splice site probably benign
R0366:Slc4a5 UTSW 6 83,272,854 (GRCm39) missense probably benign 0.02
R0668:Slc4a5 UTSW 6 83,248,054 (GRCm39) missense probably damaging 1.00
R1222:Slc4a5 UTSW 6 83,257,114 (GRCm39) missense probably damaging 1.00
R1550:Slc4a5 UTSW 6 83,248,039 (GRCm39) missense probably damaging 1.00
R1585:Slc4a5 UTSW 6 83,242,669 (GRCm39) missense probably damaging 1.00
R1731:Slc4a5 UTSW 6 83,273,617 (GRCm39) missense probably damaging 1.00
R1987:Slc4a5 UTSW 6 83,250,214 (GRCm39) missense possibly damaging 0.95
R2103:Slc4a5 UTSW 6 83,274,360 (GRCm39) missense probably benign 0.00
R2103:Slc4a5 UTSW 6 83,201,663 (GRCm39) missense probably benign 0.00
R2104:Slc4a5 UTSW 6 83,274,360 (GRCm39) missense probably benign 0.00
R2176:Slc4a5 UTSW 6 83,239,542 (GRCm39) missense probably damaging 0.98
R2920:Slc4a5 UTSW 6 83,241,369 (GRCm39) missense probably damaging 1.00
R2965:Slc4a5 UTSW 6 83,273,651 (GRCm39) missense probably damaging 1.00
R2966:Slc4a5 UTSW 6 83,273,651 (GRCm39) missense probably damaging 1.00
R3755:Slc4a5 UTSW 6 83,265,285 (GRCm39) missense probably benign 0.26
R3756:Slc4a5 UTSW 6 83,265,285 (GRCm39) missense probably benign 0.26
R4293:Slc4a5 UTSW 6 83,237,511 (GRCm39) missense probably damaging 1.00
R4789:Slc4a5 UTSW 6 83,247,951 (GRCm39) missense probably benign 0.05
R4823:Slc4a5 UTSW 6 83,249,115 (GRCm39) missense probably damaging 1.00
R4854:Slc4a5 UTSW 6 83,247,999 (GRCm39) missense probably benign 0.00
R5461:Slc4a5 UTSW 6 83,262,836 (GRCm39) missense probably benign 0.29
R5707:Slc4a5 UTSW 6 83,238,397 (GRCm39) missense probably benign 0.11
R5747:Slc4a5 UTSW 6 83,248,011 (GRCm39) missense probably damaging 1.00
R5978:Slc4a5 UTSW 6 83,254,518 (GRCm39) missense probably benign 0.01
R6126:Slc4a5 UTSW 6 83,203,247 (GRCm39) missense probably benign 0.05
R6330:Slc4a5 UTSW 6 83,203,356 (GRCm39) missense probably benign
R6564:Slc4a5 UTSW 6 83,257,042 (GRCm39) missense possibly damaging 0.71
R6786:Slc4a5 UTSW 6 83,273,729 (GRCm39) critical splice donor site probably null
R7443:Slc4a5 UTSW 6 83,241,297 (GRCm39) missense probably benign 0.45
R7672:Slc4a5 UTSW 6 83,237,517 (GRCm39) missense probably damaging 1.00
R7690:Slc4a5 UTSW 6 83,262,854 (GRCm39) missense probably damaging 1.00
R7837:Slc4a5 UTSW 6 83,238,539 (GRCm39) missense probably benign 0.01
R8169:Slc4a5 UTSW 6 83,280,373 (GRCm39) missense probably benign 0.12
R8288:Slc4a5 UTSW 6 83,203,237 (GRCm39) missense probably benign 0.01
R8397:Slc4a5 UTSW 6 83,266,308 (GRCm39) critical splice donor site probably null
R8849:Slc4a5 UTSW 6 83,250,180 (GRCm39) missense probably damaging 1.00
R9033:Slc4a5 UTSW 6 83,237,457 (GRCm39) nonsense probably null
R9133:Slc4a5 UTSW 6 83,203,217 (GRCm39) missense possibly damaging 0.85
R9201:Slc4a5 UTSW 6 83,262,812 (GRCm39) missense probably benign 0.02
R9269:Slc4a5 UTSW 6 83,266,223 (GRCm39) missense possibly damaging 0.88
R9603:Slc4a5 UTSW 6 83,217,714 (GRCm39) missense probably benign 0.34
R9781:Slc4a5 UTSW 6 83,239,466 (GRCm39) missense probably benign 0.00
Z1177:Slc4a5 UTSW 6 83,257,015 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTATCACAATGCCCGATTAGAAG -3'
(R):5'- TGACCTCAGCATCTGGGTTTC -3'

Sequencing Primer
(F):5'- GATTAGAAGTCCCCGCTCTAAG -3'
(R):5'- CAGCATCTGGGTTTCTCTGCAG -3'
Posted On 2014-12-29