|Institutional Source||Beutler Lab|
|Gene Name||major intrinsic protein of lens fiber|
|Synonyms||Aqp0, MIP26, aquaporin 0, shrivelled, lens opacity, Cts, Svl, Lop|
|Is this an essential gene?||Probably non essential (E-score: 0.181)|
|Stock #||R4648 (G1)|
|Chromosomal Location||128225838-128231812 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 128227053 bp|
|Amino Acid Change||Histidine to Glutamine at position 122 (H122Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026455 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026455]|
|Predicted Effect||probably benign
AA Change: H122Q
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: H122Q
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mip||
(F):5'- AGTTTCCCCTCTCAGGTGAG -3'
(R):5'- AGGGTCCCTAGATTCCTTGAG -3'
(F):5'- CCTCTCAGGTGAGTGAGTGCAATC -3'
(R):5'- GAGTAAGAAATTTCCCACCTCTCTTG -3'