Incidental Mutation 'IGL01727:Aqp5'
ID 105316
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: 0.093) question?
Stock # IGL01727
Quality Score
Status
Chromosome 15
Chromosomal Location 99488909-99492710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99489502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 117 (L117P)
Ref Sequence ENSEMBL: ENSMUSP00000155623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088200] [ENSMUST00000169082] [ENSMUST00000229728] [ENSMUST00000231163]
AlphaFold Q9WTY4
Predicted Effect probably damaging
Transcript: ENSMUST00000088200
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085530
Gene: ENSMUSG00000044217
AA Change: L117P

DomainStartEndE-ValueType
Pfam:MIP 4 221 5.8e-75 PFAM
low complexity region 244 256 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169082
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127611
Gene: ENSMUSG00000044217
AA Change: L117P

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 damaging
Transcript: ENSMUST00000229728
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,012,380 (GRCm39) A292V probably benign Het
Ankrd26 A G 6: 118,488,597 (GRCm39) L1354P probably damaging Het
Aox1 T A 1: 58,112,387 (GRCm39) C720* probably null Het
Ccn3 G A 15: 54,609,634 (GRCm39) A45T probably benign Het
Col9a3 T C 2: 180,258,358 (GRCm39) probably null Het
Ctrc T C 4: 141,571,072 (GRCm39) Y56C probably damaging Het
Dsc2 T A 18: 20,171,257 (GRCm39) T581S probably benign Het
Grap2 T C 15: 80,518,610 (GRCm39) I51T probably damaging Het
Herc2 A G 7: 55,787,554 (GRCm39) Y1737C probably damaging Het
Hook3 A G 8: 26,560,187 (GRCm39) M346T probably benign Het
Lancl1 C T 1: 67,060,101 (GRCm39) C108Y probably damaging Het
Lpin2 T C 17: 71,553,447 (GRCm39) C824R probably damaging Het
Mlip T C 9: 77,147,030 (GRCm39) S88G probably damaging Het
Mtdh T G 15: 34,083,255 (GRCm39) L25R probably damaging Het
Musk A G 4: 58,303,887 (GRCm39) I177V probably benign Het
Obi1 G A 14: 104,716,823 (GRCm39) R517* probably null Het
Or12e13 T C 2: 87,663,844 (GRCm39) S154P probably damaging Het
Or4c100 A G 2: 88,356,271 (GRCm39) M115V probably benign Het
Or9i16 A G 19: 13,865,242 (GRCm39) C111R probably damaging Het
Pabpc4l C A 3: 46,401,100 (GRCm39) E181D probably damaging Het
Pcdh18 A G 3: 49,710,149 (GRCm39) S389P probably damaging Het
Ptk7 A G 17: 46,883,474 (GRCm39) Y864H probably damaging Het
Rbp4 A G 19: 38,112,500 (GRCm39) V155A probably benign Het
Rilpl1 C T 5: 124,669,007 (GRCm39) A14T possibly damaging Het
Rnf148 T A 6: 23,655,001 (GRCm39) probably benign Het
Ska2 T A 11: 87,006,973 (GRCm39) L26Q probably damaging Het
Slc29a2 T A 19: 5,076,486 (GRCm39) F125I probably damaging Het
Smap2 A G 4: 120,839,405 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Supt7l A G 5: 31,677,686 (GRCm39) V160A possibly damaging Het
Susd1 A G 4: 59,412,329 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,842 (GRCm39) D375G probably damaging Het
Thoc2l A G 5: 104,667,379 (GRCm39) T634A probably benign Het
Tpst2 G A 5: 112,457,724 (GRCm39) D351N probably damaging Het
Trcg1 T C 9: 57,149,556 (GRCm39) I376T probably benign Het
Trcg1 T A 9: 57,149,877 (GRCm39) I483N probably damaging Het
Tsga10 T C 1: 37,874,355 (GRCm39) E148G probably damaging Het
Zranb1 G T 7: 132,568,349 (GRCm39) D336Y probably damaging Het
Other mutations in Aqp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-01-21