Incidental Mutation 'R6147:Aqp1'
ID 488943
Institutional Source Beutler Lab
Gene Symbol Aqp1
Ensembl Gene ENSMUSG00000004655
Gene Name aquaporin 1
Synonyms CHIP28
MMRRC Submission 044294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6147 (G1)
Quality Score 204.009
Status Not validated
Chromosome 6
Chromosomal Location 55313417-55325540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55313595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 40 (E40D)
Ref Sequence ENSEMBL: ENSMUSP00000004774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004774]
AlphaFold Q02013
Predicted Effect probably benign
Transcript: ENSMUST00000004774
AA Change: E40D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004774
Gene: ENSMUSG00000004655
AA Change: E40D

DomainStartEndE-ValueType
Pfam:MIP 4 227 3e-85 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in urine hypoosmality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,657,157 (GRCm39) probably benign Het
Acsf3 T A 8: 123,508,213 (GRCm39) D236E probably damaging Het
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Arfip1 A G 3: 84,436,485 (GRCm39) V97A probably benign Het
Atp6v1b2 T A 8: 69,555,134 (GRCm39) Y165* probably null Het
Bclaf1 T A 10: 20,199,171 (GRCm39) D189E possibly damaging Het
Camsap2 G A 1: 136,273,138 (GRCm39) T13M probably damaging Het
Cblif G A 19: 11,724,936 (GRCm39) probably benign Het
Cntn5 T A 9: 10,012,894 (GRCm39) Y297F probably damaging Het
Cntnap5b G A 1: 99,978,506 (GRCm39) C174Y probably damaging Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Comtd1 C A 14: 21,898,883 (GRCm39) A20S probably damaging Het
Cspg4 A T 9: 56,796,056 (GRCm39) R1264W probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dlgap2 T A 8: 14,777,294 (GRCm39) C180S probably benign Het
Ednra C T 8: 78,393,951 (GRCm39) probably benign Het
Efcab3 T C 11: 104,858,566 (GRCm39) V3875A unknown Het
Ephb6 A T 6: 41,593,715 (GRCm39) S533C probably damaging Het
Fndc1 A T 17: 7,972,594 (GRCm39) probably null Het
Gm12185 A G 11: 48,806,717 (GRCm39) I158T probably benign Het
Gm14325 A T 2: 177,474,600 (GRCm39) C161S probably damaging Het
Ighv9-1 T A 12: 114,057,840 (GRCm39) Q20L probably damaging Het
Khnyn G C 14: 56,125,060 (GRCm39) S438T probably damaging Het
Krt9 T C 11: 100,079,665 (GRCm39) S576G unknown Het
Lrriq4 A T 3: 30,713,228 (GRCm39) N443I probably damaging Het
Luzp1 A G 4: 136,268,374 (GRCm39) Y199C probably damaging Het
Map2k3 T A 11: 60,840,776 (GRCm39) Y268* probably null Het
Men1 T A 19: 6,387,272 (GRCm39) D248E probably damaging Het
Mfsd4b2 A T 10: 39,797,573 (GRCm39) C261S probably benign Het
Mpeg1 T G 19: 12,440,258 (GRCm39) I572S probably damaging Het
Mrgprb2 A G 7: 48,202,113 (GRCm39) V204A possibly damaging Het
Mycbp2 A T 14: 103,392,945 (GRCm39) C805* probably null Het
Nphs2 A T 1: 156,146,296 (GRCm39) K91* probably null Het
Obox3 A G 7: 15,359,926 (GRCm39) S248P probably damaging Het
Or12d17 T C 17: 37,777,430 (GRCm39) I111T probably benign Het
Or5w19 C T 2: 87,699,061 (GRCm39) T242I probably benign Het
Or8k22 A T 2: 86,162,844 (GRCm39) N285K probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pan3 T C 5: 147,485,093 (GRCm39) probably benign Het
Pate10 A G 9: 35,653,528 (GRCm39) T111A possibly damaging Het
Pate10 A T 9: 35,653,406 (GRCm39) Y70F possibly damaging Het
Pcdhb5 T A 18: 37,453,779 (GRCm39) L53Q probably damaging Het
Pcdhb9 G T 18: 37,535,494 (GRCm39) R496L possibly damaging Het
Peg10 C T 6: 4,754,499 (GRCm39) probably benign Het
Plce1 A G 19: 38,690,481 (GRCm39) K722E probably damaging Het
Plch1 A G 3: 63,630,302 (GRCm39) S489P probably damaging Het
Plekhg3 T C 12: 76,611,985 (GRCm39) V362A probably damaging Het
Prorp A G 12: 55,426,093 (GRCm39) Y168C probably damaging Het
Radil G A 5: 142,483,695 (GRCm39) H264Y probably benign Het
Ranbp2 C A 10: 58,315,250 (GRCm39) T1990K probably damaging Het
Rnf207 T C 4: 152,400,112 (GRCm39) D192G probably damaging Het
Ryr1 A T 7: 28,785,339 (GRCm39) F1784Y possibly damaging Het
Set T A 2: 29,956,836 (GRCm39) S2T probably benign Het
Slc26a2 T A 18: 61,334,757 (GRCm39) Y232F probably damaging Het
Sntb1 T A 15: 55,511,406 (GRCm39) M393L probably benign Het
Stx16 A G 2: 173,932,480 (GRCm39) T18A probably damaging Het
Stxbp5 A T 10: 9,684,216 (GRCm39) S585T possibly damaging Het
Sult2a7 T C 7: 14,199,088 (GRCm39) E313G probably damaging Het
Tbck A G 3: 132,400,207 (GRCm39) K86R probably benign Het
Tom1 A T 8: 75,781,320 (GRCm39) Q255L possibly damaging Het
Trbv4 A G 6: 41,036,637 (GRCm39) Y54C probably damaging Het
Trim34a A T 7: 103,910,398 (GRCm39) Q400L probably damaging Het
Trim42 G T 9: 97,245,382 (GRCm39) H473N probably benign Het
Tsbp1 T C 17: 34,637,897 (GRCm39) S31P possibly damaging Het
Tshr T A 12: 91,505,009 (GRCm39) M649K possibly damaging Het
Vmn2r11 C T 5: 109,202,700 (GRCm39) V126M probably benign Het
Vps13b T A 15: 35,930,177 (GRCm39) H3971Q probably benign Het
Wdr75 T A 1: 45,858,698 (GRCm39) N622K probably benign Het
Wdr93 A T 7: 79,408,245 (GRCm39) Q242L probably benign Het
Other mutations in Aqp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Aqp1 APN 6 55,322,498 (GRCm39) missense possibly damaging 0.78
IGL02361:Aqp1 APN 6 55,322,498 (GRCm39) missense possibly damaging 0.78
R0145:Aqp1 UTSW 6 55,323,672 (GRCm39) missense probably damaging 0.98
R4608:Aqp1 UTSW 6 55,313,624 (GRCm39) missense possibly damaging 0.95
R5073:Aqp1 UTSW 6 55,322,520 (GRCm39) missense probably damaging 1.00
R5074:Aqp1 UTSW 6 55,322,520 (GRCm39) missense probably damaging 1.00
R5789:Aqp1 UTSW 6 55,313,746 (GRCm39) missense probably benign
R7326:Aqp1 UTSW 6 55,313,836 (GRCm39) missense probably benign
R7731:Aqp1 UTSW 6 55,322,804 (GRCm39) missense possibly damaging 0.53
R8115:Aqp1 UTSW 6 55,322,498 (GRCm39) frame shift probably null
R8810:Aqp1 UTSW 6 55,313,606 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCTTGGAGGGAGTTGAGCAC -3'
(R):5'- TGCGGCCAAGTGAATTGTC -3'

Sequencing Primer
(F):5'- GGAGTTGAGCACCAGGC -3'
(R):5'- CACACACTGGGCGATGATGTAC -3'
Posted On 2017-10-10