Incidental Mutation 'IGL02632:Aqp5'
ID 301370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp5
Ensembl Gene ENSMUSG00000044217
Gene Name aquaporin 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02632
Quality Score
Status
Chromosome 15
Chromosomal Location 99488909-99492710 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 99491216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000085530
Gene: ENSMUSG00000044217

DomainStartEndE-ValueType
Pfam:MIP 4 221 5.8e-75 PFAM
low complexity region 244 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169082
SMART Domains Protein: ENSMUSP00000127611
Gene: ENSMUSG00000044217

DomainStartEndE-ValueType
Pfam:MIP 4 221 1.7e-75 PFAM
low complexity region 244 256 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229264
Predicted Effect probably benign
Transcript: ENSMUST00000229728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230998
Predicted Effect probably benign
Transcript: ENSMUST00000231163
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 41,208,237 (GRCm39) V501A possibly damaging Het
Alpl T G 4: 137,481,217 (GRCm39) N145T probably damaging Het
Atp1a2 T A 1: 172,108,181 (GRCm39) D640V possibly damaging Het
Atp5po T C 16: 91,725,830 (GRCm39) E49G probably benign Het
Card14 A G 11: 119,229,730 (GRCm39) D747G probably benign Het
Cfap47 A T X: 78,540,279 (GRCm39) L553H probably damaging Het
Cpz A T 5: 35,669,155 (GRCm39) D325E possibly damaging Het
Crim1 T C 17: 78,680,103 (GRCm39) I948T probably benign Het
Dpysl3 A T 18: 43,526,090 (GRCm39) S2T possibly damaging Het
Fat4 T C 3: 39,056,913 (GRCm39) V4203A probably benign Het
Gapvd1 G A 2: 34,574,186 (GRCm39) probably benign Het
Gpatch2 A G 1: 186,958,178 (GRCm39) R155G probably damaging Het
Grpr A T X: 162,298,090 (GRCm39) V318E probably damaging Het
Hipk1 T C 3: 103,667,861 (GRCm39) T569A probably benign Het
Il3ra G A 14: 14,350,807 (GRCm38) probably null Het
Llgl2 A G 11: 115,735,698 (GRCm39) H98R probably damaging Het
Loxhd1 A G 18: 77,493,628 (GRCm39) D663G probably damaging Het
Lrrc71 T C 3: 87,650,647 (GRCm39) N205S probably damaging Het
Mamdc2 C T 19: 23,308,340 (GRCm39) E521K probably benign Het
Mapre2 A G 18: 23,991,217 (GRCm39) M162V probably benign Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mib2 T C 4: 155,740,036 (GRCm39) D739G probably damaging Het
Mroh2b T C 15: 4,960,583 (GRCm39) F772S probably damaging Het
Mtss1 C T 15: 58,815,864 (GRCm39) M565I probably damaging Het
Myt1l T G 12: 29,964,292 (GRCm39) S1077A unknown Het
Nalcn T C 14: 123,555,265 (GRCm39) T873A probably benign Het
Nwd1 T A 8: 73,394,082 (GRCm39) H448Q possibly damaging Het
Odad2 A G 18: 7,214,727 (GRCm39) probably benign Het
Or14j3 T C 17: 37,901,232 (GRCm39) E4G probably benign Het
Or51m1 A G 7: 103,578,914 (GRCm39) I295V possibly damaging Het
Or5j3 T C 2: 86,128,904 (GRCm39) V248A probably damaging Het
Palld C T 8: 61,968,279 (GRCm39) E1096K probably damaging Het
Pdcd2 A G 17: 15,742,054 (GRCm39) V292A probably damaging Het
Pde2a A G 7: 101,153,863 (GRCm39) Y477C probably damaging Het
Pramel16 A G 4: 143,676,507 (GRCm39) I199T possibly damaging Het
Rcbtb1 T C 14: 59,462,131 (GRCm39) L254P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rsl1 A C 13: 67,330,227 (GRCm39) H225P probably damaging Het
Sec14l2 T C 11: 4,061,222 (GRCm39) I80V probably benign Het
Sema6a G T 18: 47,423,222 (GRCm39) D261E probably damaging Het
Serpinb9b T A 13: 33,223,806 (GRCm39) S333T probably benign Het
Slc24a4 T C 12: 102,200,941 (GRCm39) V277A probably benign Het
Snap91 T A 9: 86,721,575 (GRCm39) H88L possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmprss15 T A 16: 78,782,790 (GRCm39) N758I probably damaging Het
Ube3b C T 5: 114,536,902 (GRCm39) A300V probably benign Het
Vmn2r82 G A 10: 79,192,542 (GRCm39) V40I probably benign Het
Vsig4 G T X: 95,291,378 (GRCm39) Q265K probably benign Het
Wdr91 T C 6: 34,865,977 (GRCm39) D525G probably damaging Het
Other mutations in Aqp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Aqp5 APN 15 99,489,502 (GRCm39) missense probably damaging 1.00
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
R7059:Aqp5 UTSW 15 99,492,127 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16