Incidental Mutation 'IGL02626:Mpzl2'
ID 301101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpzl2
Ensembl Gene ENSMUSG00000032092
Gene Name myelin protein zero-like 2
Synonyms Eva, Eva1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02626
Quality Score
Status
Chromosome 9
Chromosomal Location 44951595-44965341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44955590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 167 (T167I)
Ref Sequence ENSEMBL: ENSMUSP00000150054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034600] [ENSMUST00000215292] [ENSMUST00000217097]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034600
AA Change: T122I

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034600
Gene: ENSMUSG00000032092
AA Change: T122I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IGv 42 125 9.05e-11 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215292
AA Change: T167I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216777
Predicted Effect possibly damaging
Transcript: ENSMUST00000217097
AA Change: T42I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit alterations in immune cell percentages in peripheral blood and in spleen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,810 (GRCm39) K1236E probably damaging Het
Actl7a A T 4: 56,744,353 (GRCm39) E293D possibly damaging Het
Adamts2 T C 11: 50,667,082 (GRCm39) Y460H probably damaging Het
Aoc1 G A 6: 48,883,044 (GRCm39) V307I probably benign Het
Ar C T X: 97,358,492 (GRCm39) H756Y probably damaging Het
Atg3 C T 16: 45,004,048 (GRCm39) R224W probably benign Het
Atp5po G A 16: 91,483,201 (GRCm39) P47S probably damaging Het
Bicd1 A G 6: 149,311,054 (GRCm39) E43G probably damaging Het
Ccdc88c A G 12: 100,934,059 (GRCm39) probably benign Het
Cd33 A G 7: 43,179,736 (GRCm39) probably benign Het
Cd36 T A 5: 18,002,126 (GRCm39) R292* probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh23 T C 10: 60,227,580 (GRCm39) D1167G probably damaging Het
Cdk5rap1 A G 2: 154,207,880 (GRCm39) probably null Het
Chd6 A G 2: 160,881,270 (GRCm39) probably benign Het
Chd7 A T 4: 8,826,519 (GRCm39) Y961F probably damaging Het
Cpe T C 8: 65,145,829 (GRCm39) E52G probably benign Het
Cpne5 C T 17: 29,379,311 (GRCm39) G491S probably damaging Het
Csmd3 A T 15: 47,567,503 (GRCm39) probably benign Het
Ctbp2 T A 7: 132,600,940 (GRCm39) T608S probably benign Het
Cybb A G X: 9,335,439 (GRCm39) probably null Het
Daam2 T C 17: 49,797,282 (GRCm39) T168A possibly damaging Het
Dnah5 G T 15: 28,307,422 (GRCm39) V1717F possibly damaging Het
Dse G A 10: 34,029,158 (GRCm39) T644I probably damaging Het
Dtd2 A C 12: 52,051,708 (GRCm39) Y45* probably null Het
Fgfr1op2 T A 6: 146,491,509 (GRCm39) M124K probably benign Het
Flii T C 11: 60,610,685 (GRCm39) D537G probably benign Het
Fntb T A 12: 76,944,145 (GRCm39) I217N probably benign Het
Foxi1 A G 11: 34,155,860 (GRCm39) S257P probably benign Het
Fyn G A 10: 39,402,798 (GRCm39) R190H probably damaging Het
Gm28557 T A 13: 67,223,008 (GRCm39) T8S probably benign Het
Gramd1b T C 9: 40,209,306 (GRCm39) K873E probably damaging Het
Grb10 T C 11: 11,895,503 (GRCm39) T329A probably benign Het
Haus5 A G 7: 30,356,675 (GRCm39) L477P probably damaging Het
Hectd4 A T 5: 121,491,944 (GRCm39) E3761V possibly damaging Het
Ift172 T C 5: 31,421,840 (GRCm39) I930V probably benign Het
Itprid1 T A 6: 55,945,631 (GRCm39) V784D probably benign Het
Izumo2 A G 7: 44,358,560 (GRCm39) probably benign Het
Map4k4 A G 1: 40,053,257 (GRCm39) probably benign Het
Morc1 A G 16: 48,436,123 (GRCm39) S753G probably damaging Het
Mta2 T A 19: 8,926,532 (GRCm39) I491N probably damaging Het
Myo18b A T 5: 113,025,951 (GRCm39) I33N unknown Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Or10ak13 T C 4: 118,639,531 (GRCm39) M84V probably damaging Het
Or4f58 A T 2: 111,851,458 (GRCm39) V247E probably damaging Het
Or5d47 T C 2: 87,804,068 (GRCm39) N314D probably benign Het
Or8d2b T C 9: 38,788,784 (GRCm39) L104S probably benign Het
Ralyl A T 3: 13,842,094 (GRCm39) M77L probably benign Het
Rap1gap T A 4: 137,454,364 (GRCm39) V649E probably benign Het
Rnf40 C A 7: 127,195,744 (GRCm39) Q663K probably damaging Het
Slc22a18 T C 7: 143,052,837 (GRCm39) L354P probably damaging Het
Slc9a8 T C 2: 167,309,597 (GRCm39) probably benign Het
Surf4 C T 2: 26,815,619 (GRCm39) probably null Het
T A T 17: 8,654,069 (GRCm39) N85Y probably damaging Het
Tanc1 A G 2: 59,630,216 (GRCm39) E732G probably damaging Het
Tas2r138 A G 6: 40,589,649 (GRCm39) V199A possibly damaging Het
Trim43b T C 9: 88,967,541 (GRCm39) Y365C possibly damaging Het
Ubd T C 17: 37,506,573 (GRCm39) L153P probably damaging Het
Xpnpep2 A C X: 47,215,786 (GRCm39) M513L probably benign Het
Zar1l C T 5: 150,441,210 (GRCm39) G139R probably damaging Het
Zc3hav1 T G 6: 38,309,926 (GRCm39) T299P probably damaging Het
Zfp236 C A 18: 82,676,120 (GRCm39) probably benign Het
Other mutations in Mpzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0491:Mpzl2 UTSW 9 44,954,039 (GRCm39) missense probably damaging 1.00
R2068:Mpzl2 UTSW 9 44,955,169 (GRCm39) splice site probably null
R2145:Mpzl2 UTSW 9 44,955,471 (GRCm39) missense probably benign 0.01
R4914:Mpzl2 UTSW 9 44,955,146 (GRCm39) missense probably benign 0.17
R5405:Mpzl2 UTSW 9 44,958,503 (GRCm39) missense probably damaging 1.00
R7017:Mpzl2 UTSW 9 44,958,587 (GRCm39) missense probably benign 0.21
R8170:Mpzl2 UTSW 9 44,955,019 (GRCm39) missense probably damaging 1.00
R8181:Mpzl2 UTSW 9 44,961,006 (GRCm39) missense probably benign 0.01
R9120:Mpzl2 UTSW 9 44,958,583 (GRCm39) missense probably benign
Posted On 2015-04-16