Incidental Mutation 'R7059:Aqp5'
ID 548146
Institutional Source Beutler Lab
Gene Symbol Aqp5
Ensembl Gene ENSMUSG00000044217
Gene Name aquaporin 5
Synonyms
MMRRC Submission 045156-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7059 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99488909-99492710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99492127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 125 (T125S)
Ref Sequence ENSEMBL: ENSMUSP00000155212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088200] [ENSMUST00000169082] [ENSMUST00000229728] [ENSMUST00000231163]
AlphaFold Q9WTY4
Predicted Effect probably benign
Transcript: ENSMUST00000088200
AA Change: T242S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085530
Gene: ENSMUSG00000044217
AA Change: T242S

DomainStartEndE-ValueType
Pfam:MIP 4 221 5.8e-75 PFAM
low complexity region 244 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169082
AA Change: T242S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127611
Gene: ENSMUSG00000044217
AA Change: T242S

DomainStartEndE-ValueType
Pfam:MIP 4 221 1.7e-75 PFAM
low complexity region 244 256 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000229728
AA Change: H240L
Predicted Effect probably benign
Transcript: ENSMUST00000231163
AA Change: T125S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0577 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit reduced growth on solid food and secrete diminished amounts of hypertonic, viscous saliva. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,509 (GRCm39) probably benign Het
Abca16 A G 7: 120,020,971 (GRCm39) T5A probably benign Het
Abraxas1 T C 5: 100,954,103 (GRCm39) D349G probably benign Het
Adcyap1r1 T A 6: 55,468,295 (GRCm39) L405Q probably damaging Het
Asah1 A T 8: 41,800,106 (GRCm39) N169K probably damaging Het
Atl3 A G 19: 7,511,333 (GRCm39) N515D probably benign Het
Atl3 A C 19: 7,511,334 (GRCm39) N520T probably benign Het
Atp6v1c2 C A 12: 17,339,005 (GRCm39) E249* probably null Het
Bcl2a1b T A 9: 89,081,813 (GRCm39) I134K probably damaging Het
Brd10 T A 19: 29,696,945 (GRCm39) E849D probably benign Het
Btbd10 C T 7: 112,929,129 (GRCm39) R159H probably damaging Het
Chmp6 T C 11: 119,806,866 (GRCm39) F7L probably damaging Het
Colq C A 14: 31,247,991 (GRCm39) C409F probably damaging Het
Cpox T A 16: 58,491,290 (GRCm39) V167E probably damaging Het
Cul3 T C 1: 80,254,141 (GRCm39) Y545C probably benign Het
Dqx1 C T 6: 83,041,790 (GRCm39) A544V probably benign Het
Dzip3 A G 16: 48,801,305 (GRCm39) I73T probably benign Het
Epha3 T A 16: 63,388,818 (GRCm39) Y810F probably damaging Het
Esp36 A T 17: 38,727,942 (GRCm39) I113N unknown Het
Fbxw17 T A 13: 50,586,584 (GRCm39) W429R probably damaging Het
Fcrl2 A T 3: 87,164,647 (GRCm39) I293N possibly damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Gm8126 T A 14: 43,118,975 (GRCm39) L148H probably benign Het
Gpr39 C A 1: 125,605,696 (GRCm39) S208Y probably damaging Het
Heatr5a T C 12: 51,935,017 (GRCm39) E1662G probably damaging Het
Hgfac T A 5: 35,201,773 (GRCm39) L302Q possibly damaging Het
Itih1 G A 14: 30,653,266 (GRCm39) H721Y possibly damaging Het
Kat8 A G 7: 127,524,075 (GRCm39) I372V probably benign Het
Kcnk1 T A 8: 126,756,466 (GRCm39) Y329* probably null Het
Kcns2 A T 15: 34,838,981 (GRCm39) I115F probably damaging Het
Kif1a C T 1: 92,974,551 (GRCm39) probably benign Het
Lcn2 T A 2: 32,277,608 (GRCm39) D127V possibly damaging Het
Lrfn1 T C 7: 28,166,355 (GRCm39) V583A possibly damaging Het
Map3k1 T C 13: 111,909,312 (GRCm39) I55V probably benign Het
Mapk9 T C 11: 49,757,874 (GRCm39) probably null Het
Mrpl18 A G 17: 13,132,668 (GRCm39) S154P possibly damaging Het
Mst1 C A 9: 107,961,263 (GRCm39) H524Q probably benign Het
Mtpap T C 18: 4,396,202 (GRCm39) L498P probably damaging Het
Myl3 C T 9: 110,571,105 (GRCm39) probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Mzf1 G T 7: 12,786,985 (GRCm39) S28R probably damaging Het
Olfm1 T C 2: 28,112,628 (GRCm39) S205P probably damaging Het
Or52e8 A T 7: 104,625,224 (GRCm39) probably null Het
Prrc2a G A 17: 35,376,364 (GRCm39) P809S probably damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rbm48 A T 5: 3,640,625 (GRCm39) C251* probably null Het
Rxfp1 A T 3: 79,559,576 (GRCm39) V415E probably damaging Het
Slc12a6 T A 2: 112,183,257 (GRCm39) L748Q probably damaging Het
Slc19a3 T A 1: 83,000,090 (GRCm39) Y309F probably damaging Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc38a4 G T 15: 96,906,895 (GRCm39) S281* probably null Het
Syne1 A T 10: 5,296,859 (GRCm39) S1201T probably damaging Het
Tex15 C A 8: 34,064,758 (GRCm39) T1396K possibly damaging Het
Zswim8 G T 14: 20,764,641 (GRCm39) probably null Het
Other mutations in Aqp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Aqp5 APN 15 99,489,502 (GRCm39) missense probably damaging 1.00
IGL02632:Aqp5 APN 15 99,491,216 (GRCm39) splice site probably benign
R1498:Aqp5 UTSW 15 99,491,128 (GRCm39) missense probably damaging 1.00
R2497:Aqp5 UTSW 15 99,489,180 (GRCm39) missense possibly damaging 0.51
R5673:Aqp5 UTSW 15 99,492,046 (GRCm39) missense probably benign
R6542:Aqp5 UTSW 15 99,492,143 (GRCm39) missense probably damaging 0.99
R7531:Aqp5 UTSW 15 99,489,180 (GRCm39) missense possibly damaging 0.51
R7635:Aqp5 UTSW 15 99,492,059 (GRCm39) missense probably benign 0.34
R7644:Aqp5 UTSW 15 99,492,107 (GRCm39) missense probably damaging 1.00
R7866:Aqp5 UTSW 15 99,489,424 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCGTCCATTTCCTTTCAGGG -3'
(R):5'- ATCCAATGCTGCCTCTCCAG -3'

Sequencing Primer
(F):5'- CATTTCCTTTCAGGGTCCATGGG -3'
(R):5'- TCTCCAGCTGAGAGGATGCTAG -3'
Posted On 2019-05-13