Incidental Mutation 'R6334:Aqp4'
ID 510733
Institutional Source Beutler Lab
Gene Symbol Aqp4
Ensembl Gene ENSMUSG00000024411
Gene Name aquaporin 4
Synonyms aquaporin-4
MMRRC Submission 044488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R6334 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 15522553-15544039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15526648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 278 (M278L)
Ref Sequence ENSEMBL: ENSMUSP00000078088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079081]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000079081
AA Change: M278L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: M278L

DomainStartEndE-ValueType
Pfam:MIP 29 248 8.7e-76 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,940 (GRCm39) S141T probably benign Het
Afap1l2 A G 19: 56,906,408 (GRCm39) probably null Het
Aox1 C T 1: 58,346,566 (GRCm39) Q567* probably null Het
Atp23 A C 10: 126,723,538 (GRCm39) L188R probably benign Het
Catsperg1 C T 7: 28,905,782 (GRCm39) G215D probably benign Het
Cavin4 T C 4: 48,663,824 (GRCm39) V68A possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cfap46 T C 7: 139,260,747 (GRCm39) E117G probably damaging Het
Cfhr4 A G 1: 139,701,662 (GRCm39) probably null Het
Chek1 A G 9: 36,625,788 (GRCm39) S286P possibly damaging Het
Cntn4 G A 6: 106,321,747 (GRCm39) V35I probably benign Het
Cntn4 C A 6: 106,483,153 (GRCm39) P236Q probably benign Het
Cyp2d40 C A 15: 82,645,753 (GRCm39) G84V probably benign Het
Dnah12 A T 14: 26,427,989 (GRCm39) H205L possibly damaging Het
Dock1 G A 7: 134,453,305 (GRCm39) V845I probably benign Het
Drg1 T C 11: 3,216,292 (GRCm39) K7E possibly damaging Het
Eloa G A 4: 135,737,133 (GRCm39) P488S probably damaging Het
Evi5 G A 5: 107,968,387 (GRCm39) R187* probably null Het
Fam53a T A 5: 33,758,219 (GRCm39) L301F probably damaging Het
Fmnl3 T C 15: 99,235,534 (GRCm39) K63E probably damaging Het
Gast C A 11: 100,227,438 (GRCm39) Q44K probably benign Het
Gng10 T A 4: 59,035,257 (GRCm39) V7E probably benign Het
Gtf3c5 G A 2: 28,460,474 (GRCm39) T375I probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hspa14 A T 2: 3,490,109 (GRCm39) probably null Het
Kcna3 T C 3: 106,943,740 (GRCm39) M1T probably null Het
Kcnj15 T G 16: 95,097,095 (GRCm39) L239R probably damaging Het
Klhl2 G T 8: 65,212,842 (GRCm39) D232E probably benign Het
Lamb3 A T 1: 193,017,782 (GRCm39) I888F probably damaging Het
Lars1 C A 18: 42,350,551 (GRCm39) M919I probably benign Het
Lfng T C 5: 140,598,522 (GRCm39) V247A possibly damaging Het
Lrp1b C T 2: 41,679,045 (GRCm39) A16T probably benign Het
Mamdc2 A T 19: 23,341,270 (GRCm39) I235N probably damaging Het
Map9 T A 3: 82,290,612 (GRCm39) L492Q probably damaging Het
Mcpt8 A G 14: 56,322,604 (GRCm39) V14A possibly damaging Het
Myo1b T C 1: 51,807,810 (GRCm39) K823R probably null Het
Nbea G T 3: 55,944,570 (GRCm39) T598K probably damaging Het
Nrcam C A 12: 44,619,083 (GRCm39) H877N probably benign Het
Nrxn2 T C 19: 6,581,322 (GRCm39) probably null Het
Nwd2 A T 5: 63,957,596 (GRCm39) I309F possibly damaging Het
Phyhd1 G A 2: 30,164,736 (GRCm39) probably null Het
Pkp2 C T 16: 16,043,933 (GRCm39) T229I probably damaging Het
Plagl2 G A 2: 153,074,611 (GRCm39) P97S probably benign Het
Plekhh2 C A 17: 84,874,294 (GRCm39) N526K probably benign Het
Plin4 A G 17: 56,410,261 (GRCm39) L1217P probably benign Het
Polr3e T C 7: 120,527,222 (GRCm39) S67P possibly damaging Het
Postn A G 3: 54,292,703 (GRCm39) K757E probably benign Het
Prpf39 T A 12: 65,089,587 (GRCm39) probably null Het
Ptprg C T 14: 12,166,832 (GRCm38) T745I probably damaging Het
Pxylp1 C G 9: 96,707,307 (GRCm39) A292P probably damaging Het
Rpl35 G T 2: 38,891,754 (GRCm39) D82E possibly damaging Het
Slc9a1 G A 4: 133,149,519 (GRCm39) V782I possibly damaging Het
Syn2 T A 6: 115,240,875 (GRCm39) M415K possibly damaging Het
Tmem117 A C 15: 94,909,324 (GRCm39) I246L probably benign Het
Tmem221 A T 8: 72,011,428 (GRCm39) V9E probably damaging Het
Trav13-5 A G 14: 54,033,399 (GRCm39) T103A probably damaging Het
Ubxn7 T A 16: 32,191,007 (GRCm39) probably null Het
Vmn2r101 G T 17: 19,810,112 (GRCm39) M299I possibly damaging Het
Vmn2r103 T A 17: 20,014,344 (GRCm39) S379T probably damaging Het
Vmn2r109 T C 17: 20,761,440 (GRCm39) N639S probably benign Het
Wdr26 T C 1: 181,030,771 (GRCm39) Het
Zfp109 T A 7: 23,928,308 (GRCm39) Y367F probably damaging Het
Zfp143 G A 7: 109,685,338 (GRCm39) C389Y probably damaging Het
Zfp553 G T 7: 126,836,064 (GRCm39) probably null 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
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
T0970:Aqp4 UTSW 18 15,532,940 (GRCm39) missense probably damaging 1.00
Z1177:Aqp4 UTSW 18 15,532,938 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGAAATCTGAGGCCAGGTCTAG -3'
(R):5'- ATGCATAGGTTGTCCACTGAGAC -3'

Sequencing Primer
(F):5'- CCAGGTCTAGGGAGTCTCTTC -3'
(R):5'- ATAGGTTGTCCACTGAGACACTTTTC -3'
Posted On 2018-04-02