Incidental Mutation 'R4817:Aqp4'
ID 369958
Institutional Source Beutler Lab
Gene Symbol Aqp4
Ensembl Gene ENSMUSG00000024411
Gene Name aquaporin 4
Synonyms aquaporin-4
MMRRC Submission 042435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4817 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 15522553-15544039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15532815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 93 (G93C)
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: G93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: G93C

DomainStartEndE-ValueType
Pfam:MIP 29 248 8.7e-76 PFAM
Meta Mutation Damage Score 0.9633 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (108/112)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 T A 2: 91,033,963 (GRCm39) D44E probably damaging Het
Acp5 T C 9: 22,038,379 (GRCm39) I307M probably benign Het
Ahsa1 A G 12: 87,319,940 (GRCm39) D245G possibly damaging Het
Ankrd40 A G 11: 94,230,459 (GRCm39) K316E probably benign Het
Apol9b G A 15: 77,620,088 (GRCm39) E295K possibly damaging Het
Arhgap21 A G 2: 20,854,967 (GRCm39) V1465A probably benign Het
Arhgap5 C T 12: 52,565,992 (GRCm39) P988S possibly damaging Het
Asxl3 A C 18: 22,658,511 (GRCm39) K2174Q probably damaging Het
Brf1 A T 12: 112,935,921 (GRCm39) I250N probably damaging Het
Calm1 A G 12: 100,169,832 (GRCm39) probably null Het
Ccdc33 C T 9: 57,974,818 (GRCm39) V352M probably damaging Het
Ccdc88a G T 11: 29,410,907 (GRCm39) K464N probably benign Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdc25b T A 2: 131,035,223 (GRCm39) I327N probably damaging Het
Cenpf G A 1: 189,414,566 (GRCm39) H184Y possibly damaging Het
Cimap1d G A 10: 79,475,851 (GRCm39) P238S probably damaging Het
Col6a5 G A 9: 105,811,497 (GRCm39) T674I unknown Het
Creg2 A T 1: 39,662,358 (GRCm39) M258K probably damaging Het
Csf3r T A 4: 125,931,449 (GRCm39) Y477* probably null Het
Cyp3a44 T A 5: 145,740,565 (GRCm39) Y25F possibly damaging Het
Degs2 T A 12: 108,655,325 (GRCm39) R283* probably null Het
Dido1 T C 2: 180,303,209 (GRCm39) N1565S probably benign Het
Dnah6 A T 6: 72,999,407 (GRCm39) M4008K probably benign Het
Dnmbp C A 19: 43,838,411 (GRCm39) G1138V probably benign Het
Drosha A C 15: 12,914,133 (GRCm39) H1136P probably damaging Het
Duox2 T G 2: 122,126,996 (GRCm39) N173T probably damaging Het
Dync1li1 T G 9: 114,534,162 (GRCm39) I87M probably benign Het
E2f8 A C 7: 48,517,494 (GRCm39) S770A probably benign Het
Efemp1 A G 11: 28,876,241 (GRCm39) T469A probably damaging Het
Eif3f A T 7: 108,536,982 (GRCm39) T136S probably damaging Het
Enpp5 T C 17: 44,391,871 (GRCm39) *46R probably null Het
Epb41l4b A G 4: 57,103,428 (GRCm39) V136A probably damaging Het
Fam186a A C 15: 99,831,419 (GRCm39) probably benign Het
Flt4 A G 11: 49,516,242 (GRCm39) Y115C probably damaging Het
Gal T A 19: 3,461,126 (GRCm39) probably null Het
Galnt3 C T 2: 65,923,883 (GRCm39) V462I possibly damaging Het
Gas2l1 A G 11: 5,011,429 (GRCm39) S467P possibly damaging Het
Gbx1 A G 5: 24,731,204 (GRCm39) L204P probably damaging Het
Gle1 T A 2: 29,826,223 (GRCm39) S101T probably benign Het
Gltpd2 A C 11: 70,410,303 (GRCm39) Q87P probably damaging Het
Gm12789 T A 4: 101,846,079 (GRCm39) D113E probably damaging Het
Grin3b G A 10: 79,812,732 (GRCm39) G936R probably benign Het
Gtf3c2 C T 5: 31,331,434 (GRCm39) probably null Het
Gvin3 T A 7: 106,200,437 (GRCm39) noncoding transcript Het
Klhl28 T C 12: 65,004,043 (GRCm39) T157A probably benign Het
Kmt2a A G 9: 44,732,763 (GRCm39) probably benign Het
Lamp1 A G 8: 13,222,541 (GRCm39) T242A probably benign Het
Lhfpl5 T G 17: 28,795,300 (GRCm39) I109S possibly damaging Het
Lhfpl5 T A 17: 28,801,962 (GRCm39) *220R probably null Het
Map4k2 C T 19: 6,394,459 (GRCm39) T313I probably damaging Het
Matn2 A G 15: 34,423,945 (GRCm39) D601G probably damaging Het
Mcur1 C T 13: 43,705,147 (GRCm39) V170M possibly damaging Het
Mphosph10 T C 7: 64,041,969 (GRCm39) probably benign Het
Nat8l G A 5: 34,158,387 (GRCm39) A266T probably benign Het
Nckap5 G T 1: 125,954,952 (GRCm39) D469E possibly damaging Het
Nckap5l G T 15: 99,321,067 (GRCm39) P1238T probably damaging Het
Ngf A G 3: 102,417,156 (GRCm39) probably benign Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Or2q1 A G 6: 42,794,896 (GRCm39) I164V possibly damaging Het
Or2v2 A T 11: 49,004,448 (GRCm39) V35D probably damaging Het
Pclo A T 5: 14,725,045 (GRCm39) Y1301F unknown Het
Pclo A G 5: 14,763,139 (GRCm39) T3871A unknown Het
Peli3 T C 19: 4,982,594 (GRCm39) E357G probably damaging Het
Pkd1 T A 17: 24,784,348 (GRCm39) probably null Het
Pla2g2c T G 4: 138,461,645 (GRCm39) F38C probably damaging Het
Plekha2 T A 8: 25,549,960 (GRCm39) T126S possibly damaging Het
Polr3f T A 2: 144,376,001 (GRCm39) *142K probably null Het
Ppcs C T 4: 119,276,343 (GRCm39) V81M probably benign Het
Prl7a1 A G 13: 27,819,747 (GRCm39) I169T probably damaging Het
Rbm19 C A 5: 120,271,799 (GRCm39) probably benign Het
Rdh7 T A 10: 127,721,631 (GRCm39) Y215F probably benign Het
Rragd T G 4: 32,995,072 (GRCm39) S62R probably benign Het
Rtel1 T C 2: 180,997,728 (GRCm39) S1114P possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setbp1 A G 18: 78,902,015 (GRCm39) S551P probably damaging Het
Setd6 T C 8: 96,443,683 (GRCm39) probably benign Het
Slmap A C 14: 26,183,507 (GRCm39) M292R probably damaging Het
Srrm4 T C 5: 116,615,193 (GRCm39) D97G unknown Het
Stk-ps2 G A 1: 46,068,125 (GRCm39) noncoding transcript Het
Syce1 A T 7: 140,358,336 (GRCm39) M204K probably benign Het
Syk A G 13: 52,765,242 (GRCm39) K123R probably benign Het
Tbc1d14 A T 5: 36,729,175 (GRCm39) S64T probably damaging Het
Tmt1a3 A T 15: 100,233,214 (GRCm39) D135V probably damaging Het
Traf3ip3 T C 1: 192,867,137 (GRCm39) K295E probably damaging Het
Trp53bp2 T C 1: 182,269,370 (GRCm39) probably null Het
Tsc2 T A 17: 24,815,716 (GRCm39) probably null Het
Tspyl4 T A 10: 34,173,734 (GRCm39) C75* probably null Het
Uqcc2 T C 17: 27,344,133 (GRCm39) I52V probably benign Het
Vcp T A 4: 42,983,486 (GRCm39) T525S probably damaging Het
Vmn2r18 A T 5: 151,508,897 (GRCm39) probably null Het
Vmp1 A G 11: 86,492,879 (GRCm39) V310A probably benign Het
Vps13d T A 4: 144,795,735 (GRCm39) R3671S probably damaging Het
Wdr3 T C 3: 100,053,861 (GRCm39) T544A possibly damaging Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp541 T A 7: 15,824,307 (GRCm39) F1010I probably damaging Het
Zfp64 T C 2: 168,768,032 (GRCm39) T527A probably benign Het
Zyx G T 6: 42,333,421 (GRCm39) R449M probably damaging 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
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
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'- AACTGAAGAGTTCTCACCGTGG -3'
(R):5'- CATCATGGTGGCTTTCAAAGGAG -3'

Sequencing Primer
(F):5'- ACCGTGGTGACTCCCAATC -3'
(R):5'- GGCTTTCAAAGGAGTCTGGAC -3'
Posted On 2016-02-04