Incidental Mutation 'R5405:Mpzl2'
ID 428675
Institutional Source Beutler Lab
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 # R5405 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44951595-44965341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44958503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 80 (S80P)
Ref Sequence ENSEMBL: ENSMUSP00000150395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034600] [ENSMUST00000215292] [ENSMUST00000217097]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034600
AA Change: S160P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034600
Gene: ENSMUSG00000032092
AA Change: S160P

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 noncoding transcript
Transcript: ENSMUST00000214803
Predicted Effect probably benign
Transcript: ENSMUST00000215292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216777
Predicted Effect probably damaging
Transcript: ENSMUST00000217097
AA Change: S80P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,078,179 (GRCm39) T298S probably benign Het
Atad2b G A 12: 4,990,098 (GRCm39) R141Q possibly damaging Het
B3glct A G 5: 149,632,818 (GRCm39) Q56R probably damaging Het
Cdc42bpa A G 1: 179,894,894 (GRCm39) Y358C probably damaging Het
Cdc42bpa A G 1: 179,966,085 (GRCm39) E1136G possibly damaging Het
Ceacam1 A T 7: 25,163,290 (GRCm39) N314K probably benign Het
Ces1g A T 8: 94,032,496 (GRCm39) I488N probably benign Het
Chd6 C T 2: 160,807,310 (GRCm39) R1968K probably benign Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
Cyp39a1 C T 17: 43,987,831 (GRCm39) A99V probably damaging Het
Dipk1a C T 5: 108,057,827 (GRCm39) V199I probably benign Het
Dnaaf9 A G 2: 130,554,380 (GRCm39) S890P probably damaging Het
Efcab3 A T 11: 104,612,018 (GRCm39) D620V probably benign Het
Elapor1 A T 3: 108,375,102 (GRCm39) C588* probably null Het
Erc1 A T 6: 119,801,905 (GRCm39) S37R probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gm14443 T C 2: 175,013,644 (GRCm39) I43V possibly damaging Het
Ins2 C T 7: 142,233,134 (GRCm39) R46H probably damaging Het
Krt77 T C 15: 101,769,523 (GRCm39) I413V probably damaging Het
Lpin3 A G 2: 160,745,849 (GRCm39) D660G probably damaging Het
Mpp3 T C 11: 101,901,047 (GRCm39) Q318R probably benign Het
Mrpl2 T C 17: 46,960,036 (GRCm39) probably null Het
Mrpl48 T C 7: 100,209,000 (GRCm39) Y108C probably damaging Het
Ndufaf7 C A 17: 79,246,044 (GRCm39) F92L probably damaging Het
Or14c43 T C 7: 86,115,383 (GRCm39) Y255H probably damaging Het
Or6c8 T A 10: 128,915,265 (GRCm39) D189V probably damaging Het
Rec114 T C 9: 58,567,624 (GRCm39) S121G probably benign Het
Rnase10 A T 14: 51,247,317 (GRCm39) I195F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 A G 13: 38,133,087 (GRCm39) E1754G probably damaging Het
Sec31a G T 5: 100,531,657 (GRCm39) C238* probably null Het
Slc12a6 T C 2: 112,169,724 (GRCm39) V337A probably damaging Het
Slc25a37 A G 14: 69,482,344 (GRCm39) V319A possibly damaging Het
Slc26a10 T C 10: 127,010,864 (GRCm39) Y456C probably benign Het
Slc27a3 G A 3: 90,294,382 (GRCm39) T463I probably benign Het
Slc66a3 A G 12: 17,043,315 (GRCm39) probably benign Het
Stard9 T A 2: 120,524,149 (GRCm39) D781E probably benign Het
Tle1 T C 4: 72,057,208 (GRCm39) probably benign Het
Tmem229b-ps T C 10: 53,351,325 (GRCm39) noncoding transcript Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r71 A G 7: 85,268,622 (GRCm39) D275G probably benign Het
Wdr1 T C 5: 38,692,543 (GRCm39) T121A probably benign Het
Zdhhc19 C T 16: 32,325,869 (GRCm39) R240C possibly damaging Het
Other mutations in Mpzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Mpzl2 APN 9 44,955,590 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GTTTCCCACTGCTGCCAAAG -3'
(R):5'- TACCTGTCCTATGAACGGGAAAC -3'

Sequencing Primer
(F):5'- GGTCACGTGGTCTTCATAAAAGC -3'
(R):5'- CAGTTGTTTGGCCCCACTGAAAG -3'
Posted On 2016-09-06