Incidental Mutation 'R2497:Aqp5'
ID 251114
Institutional Source Beutler Lab
Gene Symbol Aqp5
Ensembl Gene ENSMUSG00000044217
Gene Name aquaporin 5
Synonyms
MMRRC Submission 040411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2497 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99488909-99492710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99489180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 10 (F10L)
Ref Sequence ENSEMBL: ENSMUSP00000155623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088200] [ENSMUST00000169082] [ENSMUST00000229728] [ENSMUST00000231163]
AlphaFold Q9WTY4
Predicted Effect probably benign
Transcript: ENSMUST00000088200
AA Change: F10L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000085530
Gene: ENSMUSG00000044217
AA Change: F10L

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: F10L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127611
Gene: ENSMUSG00000044217
AA Change: F10L

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 possibly damaging
Transcript: ENSMUST00000229728
AA Change: F10L

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230998
Predicted Effect probably benign
Transcript: ENSMUST00000231163
Meta Mutation Damage Score 0.4193 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (60/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,612 (GRCm38) V295A probably benign Het
Agrn T C 4: 156,258,268 (GRCm39) E959G probably benign Het
Arhgap39 C A 15: 76,609,585 (GRCm39) V1025L probably damaging Het
Atg4d C T 9: 21,184,682 (GRCm39) R459* probably null Het
Atp11b A G 3: 35,909,294 (GRCm39) S1163G probably damaging Het
Atp13a5 G T 16: 29,157,889 (GRCm39) S173* probably null Het
Atp6v1g2 T A 17: 35,455,762 (GRCm39) I8N probably damaging Het
Ccdc77 C T 6: 120,302,433 (GRCm39) G430R possibly damaging Het
Cdc34b A G 11: 94,633,207 (GRCm39) T136A probably benign Het
Cdkal1 A G 13: 29,658,524 (GRCm39) S23P unknown Het
Cdkl2 T A 5: 92,156,857 (GRCm39) H566L probably benign Het
Cers6 T C 2: 68,901,790 (GRCm39) probably benign Het
Cfap251 T C 5: 123,421,432 (GRCm39) V98A probably damaging Het
Clspn A G 4: 126,466,140 (GRCm39) T557A possibly damaging Het
Cmya5 T C 13: 93,234,513 (GRCm39) T192A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah17 T G 11: 117,977,850 (GRCm39) probably null Het
Dnah8 C T 17: 30,960,339 (GRCm39) Q2239* probably null Het
Dscaml1 T C 9: 45,656,376 (GRCm39) V1572A probably benign Het
Elfn2 C G 15: 78,558,464 (GRCm39) E28Q probably damaging Het
Enam T A 5: 88,650,553 (GRCm39) N687K probably benign Het
Flywch1 G A 17: 23,974,685 (GRCm39) R652W probably benign Het
Gm5612 T C 9: 18,338,975 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Mmp3 A G 9: 7,450,131 (GRCm39) T288A probably benign Het
Mtmr4 T A 11: 87,491,649 (GRCm39) F168L probably damaging Het
Mtres1 T C 10: 43,401,263 (GRCm39) probably benign Het
Myo1d T A 11: 80,565,647 (GRCm39) N393Y probably damaging Het
Nacc2 A T 2: 25,979,580 (GRCm39) Y285* probably null Het
Nf1 G T 11: 79,334,710 (GRCm39) G844V probably damaging Het
Nox4 T A 7: 86,945,084 (GRCm39) Y113* probably null Het
Pcdha3 T C 18: 37,080,556 (GRCm39) C433R probably benign Het
Pde6c A G 19: 38,142,142 (GRCm39) I358V probably damaging Het
Pdgfrb A T 18: 61,211,700 (GRCm39) D819V possibly damaging Het
Phf3 C A 1: 30,869,095 (GRCm39) R651L probably damaging Het
Prrx1 A G 1: 163,075,834 (GRCm39) V244A possibly damaging Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rab27a T C 9: 72,992,263 (GRCm39) L97P probably damaging Het
Rnf20 G A 4: 49,652,676 (GRCm39) probably null Het
Sdad1 T C 5: 92,447,958 (GRCm39) N259S probably benign Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc1a4 T C 11: 20,282,620 (GRCm39) probably benign Het
Smyd2 T A 1: 189,617,534 (GRCm39) N300I possibly damaging Het
Snd1 A G 6: 28,888,078 (GRCm39) I875V probably benign Het
Ssh1 T C 5: 114,096,919 (GRCm39) N174S probably damaging Het
Stimate C T 14: 30,594,537 (GRCm39) L217F probably damaging Het
Tanc2 T C 11: 105,564,319 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tpcn1 C T 5: 120,677,063 (GRCm39) probably null Het
Unc45b A T 11: 82,827,269 (GRCm39) I699F probably damaging Het
Uspl1 C T 5: 149,124,664 (GRCm39) P27L probably damaging Het
Ylpm1 C G 12: 85,043,535 (GRCm39) P91R probably damaging Het
Zdhhc23 G A 16: 43,794,278 (GRCm39) T132M probably damaging Het
Zfp148 T C 16: 33,316,755 (GRCm39) Y434H probably damaging Het
Zhx2 T C 15: 57,686,551 (GRCm39) V640A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCTATATAGCGCGCCCCTG -3'
(R):5'- GGTTGCCTATTAAGAGGGCC -3'

Sequencing Primer
(F):5'- AGAGCCCCGCAGACAGACG -3'
(R):5'- CCAGAGTAATGGCCGGATTG -3'
Posted On 2014-12-04