Incidental Mutation 'R5673:Aqp5'
ID 442739
Institutional Source Beutler Lab
Gene Symbol Aqp5
Ensembl Gene ENSMUSG00000044217
Gene Name aquaporin 5
Synonyms
MMRRC Submission 043175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5673 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99488909-99492710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99492046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 98 (V98I)
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: V215I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085530
Gene: ENSMUSG00000044217
AA Change: V215I

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: V215I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127611
Gene: ENSMUSG00000044217
AA Change: V215I

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 unknown
Transcript: ENSMUST00000229728
AA Change: R213H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230998
Predicted Effect probably benign
Transcript: ENSMUST00000231163
AA Change: V98I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,877,886 (GRCm39) M94K probably damaging Het
Adam2 A G 14: 66,306,681 (GRCm39) Y103H probably benign Het
Adamts17 T C 7: 66,691,555 (GRCm39) C580R probably damaging Het
Brd2 A G 17: 34,331,581 (GRCm39) probably benign Het
Cd177 T C 7: 24,449,787 (GRCm39) N566S probably damaging Het
Cdh23 C T 10: 60,143,636 (GRCm39) D2992N probably damaging Het
Cfap69 T C 5: 5,646,027 (GRCm39) T140A possibly damaging Het
Cfi A G 3: 129,648,658 (GRCm39) I181V probably benign Het
Cnksr1 A G 4: 133,962,499 (GRCm39) L133P probably damaging Het
Col1a2 C T 6: 4,539,622 (GRCm39) L1297F unknown Het
Crot T C 5: 9,038,131 (GRCm39) N132S probably benign Het
Dnah3 T A 7: 119,550,812 (GRCm39) Q3169L possibly damaging Het
Dnah8 T A 17: 31,022,235 (GRCm39) M3945K probably damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fam204a T C 19: 60,188,415 (GRCm39) K216E probably damaging Het
Far2 A T 6: 148,047,602 (GRCm39) S94C possibly damaging Het
Gm14226 T A 2: 154,866,842 (GRCm39) S266R possibly damaging Het
Gpr137 A G 19: 6,916,466 (GRCm39) F276L probably damaging Het
Lhx3 T C 2: 26,093,006 (GRCm39) Y148C probably damaging Het
Lrfn2 T C 17: 49,403,625 (GRCm39) S583P probably benign Het
Lrrc40 A G 3: 157,754,035 (GRCm39) probably null Het
Mast4 A T 13: 102,930,580 (GRCm39) I224N probably damaging Het
Meis1 T C 11: 18,962,812 (GRCm39) K161E probably damaging Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Mrgprb2 A T 7: 48,202,121 (GRCm39) F201L probably benign Het
Mroh1 T A 15: 76,314,381 (GRCm39) L686Q probably damaging Het
Mybbp1a G A 11: 72,335,751 (GRCm39) V421I probably benign Het
Nadk G A 4: 155,669,642 (GRCm39) V143I possibly damaging Het
Nell1 A T 7: 49,878,594 (GRCm39) T272S probably damaging Het
Npnt A T 3: 132,623,258 (GRCm39) C94S probably damaging Het
Olfml2b T A 1: 170,509,698 (GRCm39) V682E probably damaging Het
Pacs2 G A 12: 113,032,618 (GRCm39) V655M probably damaging Het
Pcdha1 A C 18: 37,063,726 (GRCm39) N130T probably damaging Het
Resf1 C T 6: 149,229,491 (GRCm39) Q846* probably null Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sh3pxd2a A G 19: 47,257,105 (GRCm39) S566P probably damaging Het
Sirpa T G 2: 129,472,022 (GRCm39) V483G probably damaging Het
Sox5 T C 6: 144,062,206 (GRCm39) R149G probably damaging Het
Tbc1d4 A G 14: 101,692,444 (GRCm39) S1007P probably damaging Het
Tnfrsf8 A G 4: 145,011,905 (GRCm39) F317L probably benign Het
Ttn T C 2: 76,547,389 (GRCm39) K32219R probably damaging Het
Vmn1r170 A T 7: 23,305,630 (GRCm39) T11S possibly damaging Het
Vmn2r65 G T 7: 84,596,615 (GRCm39) L147I probably benign Het
Vmn2r77 C T 7: 86,461,214 (GRCm39) H847Y probably benign 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
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'- AAGACACCGTTCCTTCTGGAG -3'
(R):5'- AGAGGTGCTCCAAACTCTTC -3'

Sequencing Primer
(F):5'- AGGCCTGGAGATCTATGCGTC -3'
(R):5'- TTCTCCAGTGGTCCAGGG -3'
Posted On 2016-11-09