Incidental Mutation 'R5331:Mia2'
ID 423266
Institutional Source Beutler Lab
Gene Symbol Mia2
Ensembl Gene ENSMUSG00000021000
Gene Name MIA SH3 domain ER export factor 2
Synonyms MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5
MMRRC Submission 042913-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R5331 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 59142368-59237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59142598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 5 (S5G)
Ref Sequence ENSEMBL: ENSMUSP00000021384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021384] [ENSMUST00000219140]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021384
AA Change: S5G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: S5G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SH3 42 100 4.03e-2 SMART
low complexity region 288 297 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000080223
Predicted Effect probably benign
Transcript: ENSMUST00000219140
AA Change: S5G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221093
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased serum levels of cholesterol, HDL cholesterol, triglyceride, and VLDL triglyceride. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Ablim1 T C 19: 57,143,681 (GRCm39) T80A probably damaging Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Ankrd46 G A 15: 36,486,175 (GRCm39) T26I probably benign Het
Bmpr1b T C 3: 141,562,176 (GRCm39) N337S probably damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cct5 A G 15: 31,594,448 (GRCm39) probably benign Het
Cdca2 T C 14: 67,914,920 (GRCm39) K780E possibly damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Ces3a G A 8: 105,784,188 (GRCm39) E416K probably damaging Het
Chd8 T A 14: 52,439,571 (GRCm39) probably benign Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctsa A G 2: 164,676,229 (GRCm39) probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dydc1 T C 14: 40,804,320 (GRCm39) probably null Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Enpp3 T A 10: 24,684,058 (GRCm39) N227I probably damaging Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fam193a C A 5: 34,622,915 (GRCm39) probably null Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm18025 C T 12: 34,340,574 (GRCm39) C173Y probably benign Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Gpaa1 T A 15: 76,216,511 (GRCm39) probably benign Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Gvin3 T C 7: 106,197,958 (GRCm39) noncoding transcript Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Insc T A 7: 114,444,273 (GRCm39) M420K probably damaging Het
Ints10 A T 8: 69,273,472 (GRCm39) probably null Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kat6a T A 8: 23,430,000 (GRCm39) L1785Q unknown Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Knl1 T A 2: 118,900,736 (GRCm39) D812E possibly damaging Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mon1b C T 8: 114,362,899 (GRCm39) T49I probably null Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Mxd3 T C 13: 55,477,071 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nek7 A T 1: 138,426,312 (GRCm39) probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Or5d46 T C 2: 88,170,332 (GRCm39) L141P probably damaging Het
Osmr G C 15: 6,872,362 (GRCm39) T244S probably damaging Het
Ovol3 T C 7: 29,932,904 (GRCm39) D177G possibly damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Pdilt T C 7: 119,114,147 (GRCm39) E117G possibly damaging Het
Pecr A G 1: 72,314,005 (GRCm39) probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rgsl1 T C 1: 153,678,038 (GRCm39) N130S probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Sphkap A G 1: 83,254,503 (GRCm39) V1082A probably benign Het
Stox2 G A 8: 47,866,662 (GRCm39) probably benign Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tekt5 C T 16: 10,179,193 (GRCm39) M391I probably benign Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Themis2 T C 4: 132,510,244 (GRCm39) D652G possibly damaging Het
Tmem185b A G 1: 119,455,322 (GRCm39) probably benign Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Usp25 C A 16: 76,847,446 (GRCm39) Q185K probably damaging Het
Xkr5 G A 8: 18,983,484 (GRCm39) probably benign Het
Zfp541 C T 7: 15,829,683 (GRCm39) P1331S probably damaging Het
Other mutations in Mia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Mia2 APN 12 59,207,059 (GRCm39) splice site probably benign
IGL00791:Mia2 APN 12 59,155,085 (GRCm39) missense possibly damaging 0.82
IGL00821:Mia2 APN 12 59,217,106 (GRCm39) critical splice donor site probably null
IGL00901:Mia2 APN 12 59,154,815 (GRCm39) missense probably damaging 1.00
IGL00985:Mia2 APN 12 59,235,146 (GRCm39) missense probably damaging 1.00
IGL01304:Mia2 APN 12 59,151,324 (GRCm39) missense probably damaging 1.00
IGL01909:Mia2 APN 12 59,154,731 (GRCm39) missense possibly damaging 0.94
IGL02646:Mia2 APN 12 59,155,622 (GRCm39) missense probably damaging 1.00
IGL02800:Mia2 APN 12 59,235,277 (GRCm39) nonsense probably null
IGL03332:Mia2 APN 12 59,155,184 (GRCm39) missense probably damaging 0.97
PIT4812001:Mia2 UTSW 12 59,148,365 (GRCm39) missense possibly damaging 0.92
R0242:Mia2 UTSW 12 59,155,642 (GRCm39) missense probably damaging 1.00
R0242:Mia2 UTSW 12 59,155,642 (GRCm39) missense probably damaging 1.00
R0449:Mia2 UTSW 12 59,219,380 (GRCm39) critical splice donor site probably null
R0620:Mia2 UTSW 12 59,201,205 (GRCm39) missense possibly damaging 0.96
R0622:Mia2 UTSW 12 59,178,364 (GRCm39) missense probably damaging 0.98
R0632:Mia2 UTSW 12 59,182,929 (GRCm39) missense probably damaging 0.99
R1643:Mia2 UTSW 12 59,226,631 (GRCm39) splice site probably null
R1654:Mia2 UTSW 12 59,155,619 (GRCm39) missense possibly damaging 0.92
R1706:Mia2 UTSW 12 59,191,552 (GRCm39) nonsense probably null
R1776:Mia2 UTSW 12 59,196,361 (GRCm39) splice site probably benign
R1848:Mia2 UTSW 12 59,217,037 (GRCm39) splice site probably benign
R2240:Mia2 UTSW 12 59,154,668 (GRCm39) missense probably benign 0.01
R2698:Mia2 UTSW 12 59,217,780 (GRCm39) critical splice donor site probably null
R2860:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R2861:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R2862:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R3429:Mia2 UTSW 12 59,236,427 (GRCm39) missense possibly damaging 0.89
R3861:Mia2 UTSW 12 59,155,807 (GRCm39) missense probably benign 0.00
R3965:Mia2 UTSW 12 59,223,158 (GRCm39) missense probably damaging 1.00
R5156:Mia2 UTSW 12 59,219,323 (GRCm39) missense possibly damaging 0.94
R5249:Mia2 UTSW 12 59,154,911 (GRCm39) missense probably damaging 0.99
R5330:Mia2 UTSW 12 59,142,598 (GRCm39) missense probably benign 0.01
R5815:Mia2 UTSW 12 59,220,892 (GRCm39) missense possibly damaging 0.95
R5972:Mia2 UTSW 12 59,193,723 (GRCm39) missense probably damaging 1.00
R6651:Mia2 UTSW 12 59,201,148 (GRCm39) missense possibly damaging 0.78
R6676:Mia2 UTSW 12 59,155,156 (GRCm39) missense probably damaging 0.97
R6695:Mia2 UTSW 12 59,219,366 (GRCm39) missense probably damaging 0.99
R6800:Mia2 UTSW 12 59,235,332 (GRCm39) critical splice donor site probably null
R6845:Mia2 UTSW 12 59,231,064 (GRCm39) nonsense probably null
R6919:Mia2 UTSW 12 59,176,681 (GRCm39) missense possibly damaging 0.74
R7058:Mia2 UTSW 12 59,231,021 (GRCm39) missense possibly damaging 0.77
R7209:Mia2 UTSW 12 59,201,176 (GRCm39) missense possibly damaging 0.55
R7274:Mia2 UTSW 12 59,154,905 (GRCm39) missense probably damaging 0.99
R7291:Mia2 UTSW 12 59,205,155 (GRCm39) critical splice donor site probably null
R7874:Mia2 UTSW 12 59,155,374 (GRCm39) missense probably damaging 0.99
R7894:Mia2 UTSW 12 59,236,433 (GRCm39) missense probably damaging 1.00
R7961:Mia2 UTSW 12 59,206,425 (GRCm39) critical splice donor site probably null
R7980:Mia2 UTSW 12 59,155,651 (GRCm39) missense probably damaging 0.98
R8110:Mia2 UTSW 12 59,155,873 (GRCm39) splice site probably null
R8557:Mia2 UTSW 12 59,148,274 (GRCm39) missense probably damaging 0.97
R9031:Mia2 UTSW 12 59,155,586 (GRCm39) missense probably damaging 1.00
R9077:Mia2 UTSW 12 59,226,760 (GRCm39) missense possibly damaging 0.94
R9113:Mia2 UTSW 12 59,217,053 (GRCm39) utr 3 prime probably benign
R9214:Mia2 UTSW 12 59,223,150 (GRCm39) missense possibly damaging 0.92
R9433:Mia2 UTSW 12 59,148,371 (GRCm39) missense probably damaging 1.00
X0063:Mia2 UTSW 12 59,182,925 (GRCm39) missense probably damaging 0.99
Z1176:Mia2 UTSW 12 59,155,587 (GRCm39) missense probably damaging 1.00
Z1176:Mia2 UTSW 12 59,154,910 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- ACCTGACTCTGCAGACTGAGAC -3'
(R):5'- TTTGCCCCACAAGTTCACCG -3'

Sequencing Primer
(F):5'- AATTTCTGAAGCTGGGCCAG -3'
(R):5'- CCACAAGTTCACCGTGAGATTTAATG -3'
Posted On 2016-08-04