Incidental Mutation 'R0963:Mip'
ID 81384
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 039092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0963 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128061707-128067681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128061854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 35 (A35V)
Ref Sequence ENSEMBL: ENSMUSP00000026455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026455]
AlphaFold P51180
Predicted Effect probably benign
Transcript: ENSMUST00000026455
AA Change: A35V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026455
Gene: ENSMUSG00000025389
AA Change: A35V

DomainStartEndE-ValueType
Pfam:MIP 3 219 5.6e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180407
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,722,451 (GRCm39) D369G probably damaging Het
Adcy7 T C 8: 89,038,893 (GRCm39) V303A probably damaging Het
Afap1l1 A T 18: 61,870,001 (GRCm39) Y610N probably damaging Het
Agr3 T A 12: 35,984,433 (GRCm39) H53Q probably benign Het
Akr1d1 A G 6: 37,507,209 (GRCm39) I10M probably damaging Het
Atp4b G T 8: 13,440,014 (GRCm39) H111N probably benign Het
Bbs7 G T 3: 36,667,412 (GRCm39) A8E probably benign Het
Bsn C T 9: 107,989,006 (GRCm39) V2249M possibly damaging Het
Cpt1a T C 19: 3,431,634 (GRCm39) S685P probably damaging Het
Dhx57 A T 17: 80,582,956 (GRCm39) H163Q probably benign Het
Duox2 A C 2: 122,117,653 (GRCm39) C894G probably benign Het
Ecm1 T C 3: 95,643,900 (GRCm39) T209A possibly damaging Het
Glo1 T C 17: 30,819,085 (GRCm39) N79S probably benign Het
Htra1 T A 7: 130,584,009 (GRCm39) M388K possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jag2 C T 12: 112,878,934 (GRCm39) E496K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Khdc1c A G 1: 21,439,833 (GRCm39) N128S probably benign Het
Lamc1 T C 1: 153,119,132 (GRCm39) N829S probably benign Het
Leprotl1 T C 8: 34,606,189 (GRCm39) Y33C probably damaging Het
Lypd11 A T 7: 24,423,047 (GRCm39) D90E probably benign Het
Map3k3 T A 11: 106,014,618 (GRCm39) S130T probably benign Het
Ms4a19 T C 19: 11,118,921 (GRCm39) T63A possibly damaging Het
Myh15 A G 16: 48,952,512 (GRCm39) R861G probably damaging Het
Myom1 A C 17: 71,384,762 (GRCm39) I718L possibly damaging Het
Naip6 C T 13: 100,452,983 (GRCm39) R26H probably benign Het
Or52e4 G A 7: 104,706,179 (GRCm39) C242Y probably damaging Het
Pde6b A G 5: 108,578,534 (GRCm39) E824G probably benign Het
Pramel24 T A 4: 143,453,678 (GRCm39) I262N possibly damaging Het
Rbm19 T G 5: 120,268,799 (GRCm39) S476A possibly damaging Het
Rpl39l T A 16: 9,992,162 (GRCm39) probably null Het
Sec24b A G 3: 129,834,554 (GRCm39) S79P probably benign Het
Slc15a2 G A 16: 36,594,935 (GRCm39) A146V probably damaging Het
Slmap T C 14: 26,189,675 (GRCm39) Y161C probably damaging Het
Smc4 T A 3: 68,933,259 (GRCm39) C652S probably damaging Het
Stab1 A G 14: 30,869,231 (GRCm39) I1499T probably damaging Het
Tnnt1 A G 7: 4,510,594 (GRCm39) L209P probably damaging Het
Trim52 T G 14: 106,344,973 (GRCm39) S210R probably benign Het
Tsc22d1 T A 14: 76,656,039 (GRCm39) N82K possibly damaging Het
Wdr75 T C 1: 45,856,470 (GRCm39) Y498H probably benign Het
Zfp955a C T 17: 33,462,726 (GRCm39) S56N probably benign Het
Other mutations in Mip
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8124:Mip UTSW 10 128,062,070 (GRCm39) missense possibly damaging 0.92
R9367:Mip UTSW 10 128,063,029 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTTAAGAGGCAGAGCCAATTACC -3'
(R):5'- TTAGCCAGCCCTTACCGTGTTGAG -3'

Sequencing Primer
(F):5'- TCCCAGGGATTAAGAGTCCTC -3'
(R):5'- GCTAGGTTTCCTCGGACAG -3'
Posted On 2013-11-07