Incidental Mutation 'R5650:Mip'
ID 441378
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 043296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128061707-128067681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128061934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 62 (I62F)
Ref Sequence ENSEMBL: ENSMUSP00000026455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026455]
AlphaFold P51180
Predicted Effect possibly damaging
Transcript: ENSMUST00000026455
AA Change: I62F

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026455
Gene: ENSMUSG00000025389
AA Change: I62F

DomainStartEndE-ValueType
Pfam:MIP 3 219 5.6e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180407
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cep76 A T 18: 67,758,136 (GRCm39) C385S probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
H4c4 A T 13: 23,765,778 (GRCm39) N65I possibly damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Npepl1 T C 2: 173,963,329 (GRCm39) F454L possibly damaging Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rab33b T C 3: 51,400,837 (GRCm39) Y104H probably damaging Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly damaging 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
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'- GTTATTAGGGACCCAGGCAC -3'
(R):5'- TTACCGTGTTGAGCGCTAGG -3'

Sequencing Primer
(F):5'- ACTGCCATGTGGGAACTTC -3'
(R):5'- CTAGGTTTCCTCGGACAGCTG -3'
Posted On 2016-11-08