Incidental Mutation 'R4324:Aqp6'
ID 323978
Institutional Source Beutler Lab
Gene Symbol Aqp6
Ensembl Gene ENSMUSG00000043144
Gene Name aquaporin 6
Synonyms
MMRRC Submission 041095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4324 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99499281-99503358 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) G to A at 99499291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000023754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023754] [ENSMUST00000230075]
AlphaFold Q8C4A0
Predicted Effect probably null
Transcript: ENSMUST00000023754
AA Change: M1I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023754
Gene: ENSMUSG00000043144
AA Change: M1I

DomainStartEndE-ValueType
Pfam:MIP 17 228 2.2e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000230075
AA Change: M1I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afp A G 5: 90,655,764 (GRCm39) D583G probably benign Het
Alg9 T G 9: 50,716,643 (GRCm39) H22Q probably damaging Het
Arhgef10 T A 8: 14,990,335 (GRCm39) I270N possibly damaging Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Atg10 T A 13: 91,189,085 (GRCm39) D75V probably damaging Het
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Cdan1 T C 2: 120,555,460 (GRCm39) I760M probably damaging Het
Cdk14 T A 5: 5,086,532 (GRCm39) K263* probably null Het
Cdk5rap2 A T 4: 70,271,851 (GRCm39) I287N probably damaging Het
Cdkn2aip A T 8: 48,165,208 (GRCm39) S168R probably benign Het
Dnah17 C T 11: 117,985,039 (GRCm39) V1555M probably benign Het
Dsel T C 1: 111,789,123 (GRCm39) T471A probably damaging Het
Dzank1 T C 2: 144,330,618 (GRCm39) E478G possibly damaging Het
Enc1 T C 13: 97,382,405 (GRCm39) F305S probably benign Het
Epn1 T A 7: 5,100,210 (GRCm39) M441K probably benign Het
Fbxw24 C T 9: 109,434,013 (GRCm39) probably null Het
Gad1 G A 2: 70,420,174 (GRCm39) D353N probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
H2-K2 C T 17: 34,219,014 (GRCm39) V30M possibly damaging Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Krt82 T A 15: 101,450,182 (GRCm39) M505L probably benign Het
Man2a1 A G 17: 64,973,788 (GRCm39) I355V probably benign Het
Or5p53 C T 7: 107,532,900 (GRCm39) P58S probably damaging Het
Pcbp3 G A 10: 76,599,177 (GRCm39) R109* probably null Het
Pcgf1 T C 6: 83,056,938 (GRCm39) probably null Het
Plekhm2 A T 4: 141,359,168 (GRCm39) V533E possibly damaging Het
Prss3 T G 6: 41,350,779 (GRCm39) D237A probably benign Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Shc4 T A 2: 125,520,670 (GRCm39) M260L probably benign Het
Spag6l T C 16: 16,605,099 (GRCm39) Y151C probably benign Het
Stac3 C T 10: 127,339,118 (GRCm39) P76S probably damaging Het
Trpc7 T C 13: 57,035,169 (GRCm39) I255V probably damaging Het
Ttn T C 2: 76,738,923 (GRCm39) E3872G probably benign Het
Uqcrfs1 A G 13: 30,725,141 (GRCm39) V133A probably benign Het
Vmn2r52 T A 7: 9,904,940 (GRCm39) T300S possibly damaging Het
Wipi1 A T 11: 109,494,662 (GRCm39) I57N possibly damaging Het
Other mutations in Aqp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Aqp6 APN 15 99,502,159 (GRCm39) missense probably benign 0.01
IGL02827:Aqp6 APN 15 99,500,892 (GRCm39) missense probably damaging 1.00
R1482:Aqp6 UTSW 15 99,502,188 (GRCm39) makesense probably null
R1708:Aqp6 UTSW 15 99,500,543 (GRCm39) missense possibly damaging 0.92
R5756:Aqp6 UTSW 15 99,500,623 (GRCm39) missense probably damaging 0.98
R5974:Aqp6 UTSW 15 99,499,317 (GRCm39) missense probably benign 0.12
R6773:Aqp6 UTSW 15 99,500,558 (GRCm39) missense probably damaging 0.98
R7599:Aqp6 UTSW 15 99,501,652 (GRCm39) missense possibly damaging 0.59
R9151:Aqp6 UTSW 15 99,501,655 (GRCm39) missense possibly damaging 0.92
R9443:Aqp6 UTSW 15 99,499,409 (GRCm39) missense
X0025:Aqp6 UTSW 15 99,499,386 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTGAGCACTCTGAACCTC -3'
(R):5'- CAGATTGAAGGTGATGGCGATC -3'

Sequencing Primer
(F):5'- CCCATGAATCTGAGCAGCTTG -3'
(R):5'- TGATGGCGATCTGGAGCAC -3'
Posted On 2015-06-24