Incidental Mutation 'T0970:Aqp4'
ID 67272
Institutional Source Beutler Lab
Gene Symbol Aqp4
Ensembl Gene ENSMUSG00000024411
Gene Name aquaporin 4
Synonyms aquaporin-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # T0970 (G3) of strain 713
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 15522553-15544039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15532940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
Ref Sequence ENSEMBL: ENSMUSP00000078088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079081]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079081
AA Change: L51P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: L51P

DomainStartEndE-ValueType
Pfam:MIP 29 248 8.7e-76 PFAM
Meta Mutation Damage Score 0.9279 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (25/25)
MGI Phenotype FUNCTION: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, aswell as significant hearing impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A T 10: 88,817,052 (GRCm39) L591* probably null Het
Cemip A T 7: 83,632,354 (GRCm39) C403S probably damaging Het
Cfap74 G T 4: 155,547,574 (GRCm39) probably null Het
Glis3 G A 19: 28,508,332 (GRCm39) R551W probably damaging Het
Gm11232 T A 4: 71,674,740 (GRCm39) Y254F possibly damaging Het
Map3k14 G T 11: 103,115,124 (GRCm39) C837* probably null Het
Mrc2 A C 11: 105,238,453 (GRCm39) E1200A probably benign Het
Nfix T C 8: 85,453,112 (GRCm39) N314S possibly damaging Het
Nphp4 T C 4: 152,640,836 (GRCm39) S1068P probably damaging Het
Nup98 A C 7: 101,835,959 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,464 (GRCm39) R7G probably benign Het
Pcdhac2 T C 18: 37,278,388 (GRCm39) V456A possibly damaging Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Prss38 A G 11: 59,263,974 (GRCm39) V246A possibly damaging Het
Rnf26 C G 9: 44,023,369 (GRCm39) R172P probably damaging Het
Septin4 A T 11: 87,458,558 (GRCm39) T311S probably damaging Het
Serinc3 TATCATC TATC 2: 163,469,835 (GRCm39) probably benign Het
Spire1 C A 18: 67,634,133 (GRCm39) probably null Het
Tex2 T A 11: 106,437,772 (GRCm39) I633F unknown Het
Tle2 A G 10: 81,416,119 (GRCm39) D108G possibly damaging Het
Txnrd2 T C 16: 18,260,523 (GRCm39) V185A probably damaging Het
Unc45b C A 11: 82,813,714 (GRCm39) H374N probably benign Het
Wtap T C 17: 13,188,277 (GRCm39) probably benign Het
Other mutations in Aqp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Aqp4 APN 18 15,526,656 (GRCm39) missense probably benign 0.01
IGL01700:Aqp4 APN 18 15,532,922 (GRCm39) missense probably benign 0.44
IGL02409:Aqp4 APN 18 15,532,782 (GRCm39) missense probably benign 0.02
IGL02812:Aqp4 APN 18 15,530,632 (GRCm39) splice site probably null
IGL03157:Aqp4 APN 18 15,533,037 (GRCm39) missense probably benign 0.18
IGL03196:Aqp4 APN 18 15,526,566 (GRCm39) missense probably benign 0.19
R0358:Aqp4 UTSW 18 15,531,302 (GRCm39) missense probably benign
R1061:Aqp4 UTSW 18 15,531,248 (GRCm39) missense probably damaging 1.00
R1981:Aqp4 UTSW 18 15,526,608 (GRCm39) missense probably damaging 0.98
R1982:Aqp4 UTSW 18 15,526,608 (GRCm39) missense probably damaging 0.98
R2274:Aqp4 UTSW 18 15,526,537 (GRCm39) missense probably benign
R3033:Aqp4 UTSW 18 15,526,617 (GRCm39) missense possibly damaging 0.80
R4608:Aqp4 UTSW 18 15,531,183 (GRCm39) missense probably benign 0.25
R4817:Aqp4 UTSW 18 15,532,815 (GRCm39) missense probably damaging 1.00
R4882:Aqp4 UTSW 18 15,531,311 (GRCm39) missense possibly damaging 0.73
R5870:Aqp4 UTSW 18 15,532,946 (GRCm39) missense probably damaging 1.00
R6235:Aqp4 UTSW 18 15,531,170 (GRCm39) missense probably damaging 1.00
R6334:Aqp4 UTSW 18 15,526,648 (GRCm39) missense probably benign
R6856:Aqp4 UTSW 18 15,532,953 (GRCm39) missense possibly damaging 0.88
R7753:Aqp4 UTSW 18 15,533,033 (GRCm39) missense probably benign 0.00
R7839:Aqp4 UTSW 18 15,532,737 (GRCm39) missense possibly damaging 0.51
R8191:Aqp4 UTSW 18 15,531,222 (GRCm39) missense probably benign
R8206:Aqp4 UTSW 18 15,526,716 (GRCm39) missense possibly damaging 0.88
R8759:Aqp4 UTSW 18 15,533,048 (GRCm39) missense probably benign
R9614:Aqp4 UTSW 18 15,526,687 (GRCm39) missense probably benign 0.01
Z1177:Aqp4 UTSW 18 15,532,938 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCTACAGTCACAGCGGGATTGATG -3'
(R):5'- AACTTAGCCGGGACAGTTTCCTTTC -3'

Sequencing Primer
(F):5'- CCACAGGTAAGGGGTTTTCT -3'
(R):5'- GATTGCCTGTCCAGTGAATAAG -3'
Posted On 2013-09-03