Incidental Mutation 'R1061:Aqp4'
ID 94556
Institutional Source Beutler Lab
Gene Symbol Aqp4
Ensembl Gene ENSMUSG00000024411
Gene Name aquaporin 4
Synonyms aquaporin-4
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1061 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 15389394-15403684 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15398191 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 171 (V171E)
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: V171E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: V171E

Pfam:MIP 29 248 8.7e-76 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,277,809 (GRCm38) A715T probably benign Het
Ampd2 A G 3: 108,075,689 (GRCm38) Y641H probably damaging Het
Arid4a T A 12: 71,074,955 (GRCm38) S381R probably damaging Het
Armc8 T G 9: 99,537,731 (GRCm38) N51H probably damaging Het
Asic5 T A 3: 82,021,001 (GRCm38) Y424N probably damaging Het
Bcl11a A T 11: 24,164,069 (GRCm38) K471* probably null Het
Birc6 A G 17: 74,689,312 (GRCm38) T4494A probably damaging Het
Btbd9 A G 17: 30,527,435 (GRCm38) I139T probably benign Het
Ccdc114 T C 7: 45,941,755 (GRCm38) I218T probably damaging Het
Ccdc60 C A 5: 116,172,468 (GRCm38) R178S possibly damaging Het
Cd163 C T 6: 124,309,169 (GRCm38) A226V probably benign Het
Cog1 T G 11: 113,652,037 (GRCm38) S170A probably benign Het
Cwc15 T C 9: 14,507,915 (GRCm38) L169P probably damaging Het
Cyp3a25 A T 5: 145,986,833 (GRCm38) D333E probably benign Het
Ddc C T 11: 11,829,132 (GRCm38) V331I probably benign Het
Dlc1 T A 8: 36,858,051 (GRCm38) T367S probably benign Het
Dnah17 T C 11: 118,052,688 (GRCm38) D3183G possibly damaging Het
Eif2a T A 3: 58,545,065 (GRCm38) Y165* probably null Het
Eml6 T C 11: 29,777,267 (GRCm38) D1285G probably damaging Het
Fam92b C A 8: 120,169,704 (GRCm38) probably null Het
Fasn T C 11: 120,822,182 (GRCm38) probably null Het
Fbn1 T C 2: 125,345,963 (GRCm38) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 191,008,173 (GRCm38) V550E probably benign Het
Gcm2 A G 13: 41,105,871 (GRCm38) W41R probably damaging Het
Gli2 A T 1: 118,854,517 (GRCm38) M160K possibly damaging Het
Gpr61 C T 3: 108,150,307 (GRCm38) R346H probably damaging Het
Hoxa5 A T 6: 52,204,155 (GRCm38) S66T probably benign Het
Hsph1 A T 5: 149,618,418 (GRCm38) V781D possibly damaging Het
Kdm3b G A 18: 34,796,862 (GRCm38) V220M probably damaging Het
Klhl25 T A 7: 75,866,520 (GRCm38) Y391* probably null Het
Mc2r A T 18: 68,407,809 (GRCm38) Y138N probably damaging Het
Mtap C A 4: 89,156,584 (GRCm38) D106E probably benign Het
Nup43 G T 10: 7,667,671 (GRCm38) W37L probably damaging Het
Nxpe2 T A 9: 48,326,363 (GRCm38) E197D probably damaging Het
Olfr1098 A T 2: 86,922,782 (GRCm38) V250D possibly damaging Het
Olfr484 T C 7: 108,124,456 (GRCm38) Y269C probably damaging Het
Olfr544 T A 7: 102,484,114 (GRCm38) *335C probably null Het
Olfr934 C A 9: 38,982,483 (GRCm38) C187F probably damaging Het
Pitrm1 A G 13: 6,555,575 (GRCm38) H186R probably damaging Het
Pklr C T 3: 89,144,881 (GRCm38) R467C probably damaging Het
Plxna2 A G 1: 194,644,093 (GRCm38) N112D probably damaging Het
Ppp1r16a C T 15: 76,693,669 (GRCm38) Q328* probably null Het
Ppp3cb A C 14: 20,508,614 (GRCm38) probably null Het
R3hcc1l C T 19: 42,583,426 (GRCm38) R135* probably null Het
Ralyl A C 3: 14,115,701 (GRCm38) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
S100a1 T C 3: 90,511,312 (GRCm38) N65S probably damaging Het
Scn11a A T 9: 119,795,663 (GRCm38) M531K probably damaging Het
Slc5a5 T A 8: 70,890,221 (GRCm38) M232L probably benign Het
Tet3 A T 6: 83,373,323 (GRCm38) N1054K probably damaging Het
Tg A G 15: 66,698,559 (GRCm38) N1427D probably benign Het
Tns1 A C 1: 73,917,672 (GRCm38) V530G probably damaging Het
Trcg1 C A 9: 57,245,873 (GRCm38) Q600K possibly damaging Het
Tshz3 A G 7: 36,768,706 (GRCm38) E40G probably damaging Het
Usp34 T C 11: 23,384,420 (GRCm38) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,061,644 (GRCm38) T726I probably benign Het
Vmn2r97 A T 17: 18,928,178 (GRCm38) R112* probably null Het
Vwa2 G T 19: 56,908,994 (GRCm38) R577L probably benign Het
Vwa3b A C 1: 37,157,430 (GRCm38) Q46P probably damaging Het
Wdr25 T A 12: 108,992,799 (GRCm38) probably null Het
Wrap53 A G 11: 69,562,400 (GRCm38) L405P probably damaging Het
Zfp629 C A 7: 127,611,989 (GRCm38) W216L probably damaging Het
Other mutations in Aqp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Aqp4 APN 18 15,393,599 (GRCm38) missense probably benign 0.01
IGL01700:Aqp4 APN 18 15,399,865 (GRCm38) missense probably benign 0.44
IGL02409:Aqp4 APN 18 15,399,725 (GRCm38) missense probably benign 0.02
IGL02812:Aqp4 APN 18 15,397,575 (GRCm38) splice site probably null
IGL03157:Aqp4 APN 18 15,399,980 (GRCm38) missense probably benign 0.18
IGL03196:Aqp4 APN 18 15,393,509 (GRCm38) missense probably benign 0.19
R0358:Aqp4 UTSW 18 15,398,245 (GRCm38) missense probably benign
R1981:Aqp4 UTSW 18 15,393,551 (GRCm38) missense probably damaging 0.98
R1982:Aqp4 UTSW 18 15,393,551 (GRCm38) missense probably damaging 0.98
R2274:Aqp4 UTSW 18 15,393,480 (GRCm38) missense probably benign
R3033:Aqp4 UTSW 18 15,393,560 (GRCm38) missense possibly damaging 0.80
R4608:Aqp4 UTSW 18 15,398,126 (GRCm38) missense probably benign 0.25
R4817:Aqp4 UTSW 18 15,399,758 (GRCm38) missense probably damaging 1.00
R4882:Aqp4 UTSW 18 15,398,254 (GRCm38) missense possibly damaging 0.73
R5870:Aqp4 UTSW 18 15,399,889 (GRCm38) missense probably damaging 1.00
R6235:Aqp4 UTSW 18 15,398,113 (GRCm38) missense probably damaging 1.00
R6334:Aqp4 UTSW 18 15,393,591 (GRCm38) missense probably benign
R6856:Aqp4 UTSW 18 15,399,896 (GRCm38) missense possibly damaging 0.88
R7753:Aqp4 UTSW 18 15,399,976 (GRCm38) missense probably benign 0.00
R7839:Aqp4 UTSW 18 15,399,680 (GRCm38) missense possibly damaging 0.51
R8191:Aqp4 UTSW 18 15,398,165 (GRCm38) missense probably benign
R8206:Aqp4 UTSW 18 15,393,659 (GRCm38) missense possibly damaging 0.88
R8759:Aqp4 UTSW 18 15,399,991 (GRCm38) missense probably benign
R9614:Aqp4 UTSW 18 15,393,630 (GRCm38) missense probably benign 0.01
T0970:Aqp4 UTSW 18 15,399,883 (GRCm38) missense probably damaging 1.00
Z1177:Aqp4 UTSW 18 15,399,881 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-05