Incidental Mutation 'R8124:Mip'
ID 631652
Institutional Source Beutler Lab
Gene Symbol Mip
Ensembl Gene ENSMUSG00000025389
Gene Name major intrinsic protein of lens fiber
Synonyms Svl, Aqp0, shrivelled, Cts, lens opacity, aquaporin 0, Lop, MIP26
MMRRC Submission 067553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R8124 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128061707-128067681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128062070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
Ref Sequence ENSEMBL: ENSMUSP00000026455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026455]
AlphaFold P51180
Predicted Effect possibly damaging
Transcript: ENSMUST00000026455
AA Change: V107A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026455
Gene: ENSMUSG00000025389
AA Change: V107A

DomainStartEndE-ValueType
Pfam:MIP 3 219 5.6e-82 PFAM
Meta Mutation Damage Score 0.4512 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.5%
Validation Efficiency 98% (51/52)
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap3 T A 5: 24,683,128 (GRCm39) I320N probably benign Het
Ahnak G A 19: 8,984,487 (GRCm39) G1924S probably damaging Het
Ap2a2 G A 7: 141,178,757 (GRCm39) R141H probably benign Het
Atf7ip2 T C 16: 10,026,999 (GRCm39) V89A possibly damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Dab2 T A 15: 6,458,878 (GRCm39) C263* probably null Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Dennd5a A T 7: 109,497,142 (GRCm39) I1119N probably damaging Het
Dpy30 A G 17: 74,623,099 (GRCm39) probably benign Het
Epg5 G A 18: 78,008,211 (GRCm39) A780T probably benign Het
Etl4 A G 2: 20,811,451 (GRCm39) D1546G probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
F13a1 T C 13: 37,209,779 (GRCm39) K62R probably damaging Het
Gm2832 T C 14: 41,000,894 (GRCm39) M44T Het
Gm9195 T C 14: 72,680,063 (GRCm39) I2249V probably benign Het
Hmcn2 T C 2: 31,290,136 (GRCm39) V2323A probably benign Het
Ice2 T A 9: 69,307,777 (GRCm39) N20K probably damaging Het
Klf15 T C 6: 90,443,863 (GRCm39) F146S probably damaging Het
Lgi3 A G 14: 70,772,178 (GRCm39) Y241C probably damaging Het
Lig4 A T 8: 10,022,954 (GRCm39) D275E probably damaging Het
Lrit1 T A 14: 36,784,005 (GRCm39) S444R probably benign Het
Lrrc37 A G 11: 103,511,257 (GRCm39) V237A unknown Het
Mtrex A C 13: 113,063,871 (GRCm39) D7E probably benign Het
Myo15a G A 11: 60,398,279 (GRCm39) V1581M Het
Nckap1l A G 15: 103,382,248 (GRCm39) D481G possibly damaging Het
Obox3 A T 7: 15,323,874 (GRCm39) probably null Het
Or11h4 C T 14: 50,973,743 (GRCm39) R292H probably benign Het
Or2d3 G A 7: 106,491,088 (GRCm39) T76I possibly damaging Het
Or5a21 T A 19: 12,310,834 (GRCm39) N129Y probably damaging Het
Or5p1 C A 7: 107,916,984 (GRCm39) N294K possibly damaging Het
Or8g27 T C 9: 39,128,967 (GRCm39) F105L probably benign Het
Pilrb2 T A 5: 137,869,306 (GRCm39) E98V probably damaging Het
Plekhm1 A G 11: 103,257,775 (GRCm39) V1053A probably benign Het
Prdm2 A T 4: 142,861,835 (GRCm39) V485E probably damaging Het
Riox2 G A 16: 59,306,954 (GRCm39) E282K probably benign Het
Rps6ka2 T A 17: 7,549,228 (GRCm39) V379E possibly damaging Het
Slc4a7 G A 14: 14,729,211 (GRCm38) E20K possibly damaging Het
Sned1 G A 1: 93,210,711 (GRCm39) probably null Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tent4a G A 13: 69,681,716 (GRCm39) probably benign Het
Tmem132d T C 5: 127,869,624 (GRCm39) Q570R probably damaging Het
Tmem87a T C 2: 120,222,676 (GRCm39) T168A probably benign Het
Trank1 A G 9: 111,207,995 (GRCm39) R1747G probably benign Het
Txk C T 5: 72,860,606 (GRCm39) probably null Het
Vcan T A 13: 89,852,373 (GRCm39) L862F possibly damaging Het
Wdr64 A T 1: 175,626,844 (GRCm39) probably null Het
Zfp106 G T 2: 120,354,812 (GRCm39) Q1343K probably benign Het
Zfp719 A G 7: 43,239,314 (GRCm39) T301A probably benign Het
Other mutations in Mip
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0963:Mip UTSW 10 128,061,854 (GRCm39) missense probably benign 0.00
R1952:Mip UTSW 10 128,061,772 (GRCm39) missense possibly damaging 0.91
R3110:Mip UTSW 10 128,061,875 (GRCm39) nonsense probably null
R3111:Mip UTSW 10 128,061,875 (GRCm39) nonsense probably null
R3112:Mip UTSW 10 128,061,875 (GRCm39) nonsense probably null
R4646:Mip UTSW 10 128,062,922 (GRCm39) missense probably benign 0.00
R4648:Mip UTSW 10 128,062,922 (GRCm39) missense probably benign 0.00
R5650:Mip UTSW 10 128,061,934 (GRCm39) missense possibly damaging 0.74
R6227:Mip UTSW 10 128,061,875 (GRCm39) nonsense probably null
R9367:Mip UTSW 10 128,063,029 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGGCTACATTGGTGCAGAC -3'
(R):5'- AGGGGACTTGAACTCAACTTTCTG -3'

Sequencing Primer
(F):5'- CAGACTGTGGGTCACATCAGTG -3'
(R):5'- AACTTTCTGGATTCACCACGGAGG -3'
Posted On 2020-06-30