Incidental Mutation 'R7209:Mia2'
ID 560951
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 045338-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R7209 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 59142368-59237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59201176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 198 (V198E)
Ref Sequence ENSEMBL: ENSMUSP00000135245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069430] [ENSMUST00000170992] [ENSMUST00000175877] [ENSMUST00000175912] [ENSMUST00000176322] [ENSMUST00000176336] [ENSMUST00000176892] [ENSMUST00000176464] [ENSMUST00000176727] [ENSMUST00000176752] [ENSMUST00000177162] [ENSMUST00000177225] [ENSMUST00000177370] [ENSMUST00000219140]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000069430
AA Change: V231E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: V231E

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 124 253 9e-6 SMART
SCOP:d1fxkc_ 314 437 3e-16 SMART
low complexity region 480 493 N/A INTRINSIC
low complexity region 533 556 N/A INTRINSIC
low complexity region 682 700 N/A INTRINSIC
low complexity region 707 717 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 751 775 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170992
AA Change: V209E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: V209E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 102 231 2e-6 SMART
SCOP:d1fxkc_ 292 415 2e-17 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
low complexity region 660 678 N/A INTRINSIC
low complexity region 685 695 N/A INTRINSIC
low complexity region 700 720 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175877
AA Change: V181E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: V181E

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCOP:d1fxkc_ 74 203 1e-5 SMART
SCOP:d1fxkc_ 264 387 6e-16 SMART
low complexity region 430 443 N/A INTRINSIC
low complexity region 589 607 N/A INTRINSIC
low complexity region 614 624 N/A INTRINSIC
low complexity region 629 649 N/A INTRINSIC
low complexity region 658 682 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175912
AA Change: V222E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: V222E

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 115 244 8e-6 SMART
SCOP:d1fxkc_ 305 428 2e-16 SMART
low complexity region 471 484 N/A INTRINSIC
low complexity region 524 547 N/A INTRINSIC
low complexity region 673 691 N/A INTRINSIC
low complexity region 698 708 N/A INTRINSIC
low complexity region 713 733 N/A INTRINSIC
low complexity region 742 766 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176322
AA Change: V242E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: V242E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 135 264 4e-6 SMART
SCOP:d1fxkc_ 325 448 9e-17 SMART
low complexity region 491 504 N/A INTRINSIC
low complexity region 544 567 N/A INTRINSIC
low complexity region 693 711 N/A INTRINSIC
low complexity region 718 728 N/A INTRINSIC
low complexity region 733 753 N/A INTRINSIC
low complexity region 762 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176336
AA Change: V198E

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: V198E

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
coiled coil region 55 235 N/A INTRINSIC
SCOP:d1fxkc_ 281 404 6e-8 SMART
low complexity region 447 460 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176892
AA Change: V198E

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: V198E

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 91 220 4e-6 SMART
SCOP:d1fxkc_ 281 404 8e-17 SMART
low complexity region 447 460 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
low complexity region 649 667 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
low complexity region 689 709 N/A INTRINSIC
low complexity region 718 742 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176464
AA Change: V233E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: V233E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 126 255 4e-6 SMART
SCOP:d1fxkc_ 316 439 8e-17 SMART
low complexity region 482 495 N/A INTRINSIC
low complexity region 535 558 N/A INTRINSIC
low complexity region 684 702 N/A INTRINSIC
low complexity region 709 719 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 753 777 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000176727
SMART Domains Protein: ENSMUSP00000135694
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176752
SMART Domains Protein: ENSMUSP00000134972
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177162
AA Change: V233E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: V233E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 126 255 2e-5 SMART
SCOP:d1fxkc_ 316 439 8e-16 SMART
low complexity region 482 495 N/A INTRINSIC
low complexity region 641 659 N/A INTRINSIC
low complexity region 666 676 N/A INTRINSIC
low complexity region 681 701 N/A INTRINSIC
low complexity region 710 734 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177225
AA Change: V205E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: V205E

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
SCOP:d1fxkc_ 98 227 3e-5 SMART
SCOP:d1fxkc_ 288 411 2e-15 SMART
low complexity region 454 467 N/A INTRINSIC
low complexity region 613 631 N/A INTRINSIC
low complexity region 638 648 N/A INTRINSIC
low complexity region 653 673 N/A INTRINSIC
low complexity region 682 706 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177370
SMART Domains Protein: ENSMUSP00000135179
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
coiled coil region 95 167 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000219140
AA Change: V834E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,767,268 (GRCm39) Y61H probably damaging Het
Adgrb1 T G 15: 74,441,797 (GRCm39) V966G possibly damaging Het
Adh5 G A 3: 138,148,909 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,333,207 (GRCm39) V28A probably damaging Het
Apbb1 T A 7: 105,215,292 (GRCm39) I450F probably damaging Het
Arhgap23 C T 11: 97,366,911 (GRCm39) T1064I probably damaging Het
Arhgap23 G C 11: 97,383,273 (GRCm39) probably null Het
Atg4b A G 1: 93,702,955 (GRCm39) I128M probably damaging Het
Baat A T 4: 49,503,065 (GRCm39) I19N probably damaging Het
Bspry T G 4: 62,404,852 (GRCm39) I216S possibly damaging Het
Commd9 T A 2: 101,725,483 (GRCm39) S19T possibly damaging Het
Cr2 A G 1: 194,851,032 (GRCm39) C145R probably damaging Het
Cyp2c68 A G 19: 39,677,649 (GRCm39) L447P probably damaging Het
Depdc1b T C 13: 108,519,389 (GRCm39) M333T possibly damaging Het
Dhx9 T C 1: 153,340,369 (GRCm39) T710A possibly damaging Het
Dnah5 T C 15: 28,459,371 (GRCm39) V4530A possibly damaging Het
Dohh T A 10: 81,221,874 (GRCm39) H89Q probably damaging Het
Dop1b T A 16: 93,566,733 (GRCm39) N1171K probably benign Het
Dscam T C 16: 96,451,544 (GRCm39) probably null Het
Entpd5 T A 12: 84,443,702 (GRCm39) S14C probably benign Het
Eqtn G A 4: 94,813,806 (GRCm39) S125F probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fgf18 A T 11: 33,084,315 (GRCm39) D46E probably benign Het
Foxa1 T A 12: 57,590,077 (GRCm39) M48L probably benign Het
Gabrg1 C A 5: 70,911,513 (GRCm39) C417F probably damaging Het
Glrp1 T A 1: 88,431,004 (GRCm39) Q122L unknown Het
Gm5622 A G 14: 51,893,363 (GRCm39) I97V possibly damaging Het
Gusb A G 5: 130,027,387 (GRCm39) V306A probably benign Het
Hars1 A G 18: 36,906,593 (GRCm39) S126P probably benign Het
Herc1 A G 9: 66,292,314 (GRCm39) S356G possibly damaging Het
Hydin C A 8: 111,216,424 (GRCm39) Y1336* probably null Het
Iftap T C 2: 101,396,727 (GRCm39) *217W probably null Het
Kin T C 2: 10,096,564 (GRCm39) Y138H possibly damaging Het
Lypd2 C T 15: 74,604,266 (GRCm39) V101M probably benign Het
Madcam1 A T 10: 79,500,892 (GRCm39) T70S possibly damaging Het
Man1a2 A G 3: 100,554,395 (GRCm39) C112R unknown Het
Mpdz C T 4: 81,225,114 (GRCm39) V1438M possibly damaging Het
Mtif2 G A 11: 29,479,996 (GRCm39) V21M probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nln G A 13: 104,209,406 (GRCm39) Q56* probably null Het
Nlrp4b T C 7: 10,444,297 (GRCm39) V82A probably benign Het
Obscn C A 11: 58,975,933 (GRCm39) E2065* probably null Het
Or10g1 A G 14: 52,647,550 (GRCm39) C260R possibly damaging Het
Pilrb2 C T 5: 137,869,126 (GRCm39) probably null Het
Plekhh1 C A 12: 79,097,150 (GRCm39) D99E probably benign Het
Polr2b T A 5: 77,491,026 (GRCm39) F956I probably damaging Het
Ppp3cc A G 14: 70,504,947 (GRCm39) F20L probably benign Het
Prmt9 T C 8: 78,291,627 (GRCm39) V333A probably benign Het
Psd4 T C 2: 24,287,357 (GRCm39) S430P probably damaging Het
Relch C A 1: 105,678,082 (GRCm39) P1136T probably damaging Het
Rrp12 A C 19: 41,861,388 (GRCm39) V973G possibly damaging Het
Rxfp2 A G 5: 149,976,563 (GRCm39) probably null Het
S100a6 G A 3: 90,521,095 (GRCm39) A8T possibly damaging Het
Sgsm2 C A 11: 74,745,151 (GRCm39) G717V probably damaging Het
Sipa1 A G 19: 5,705,003 (GRCm39) Y531H probably damaging Het
Slc45a1 A C 4: 150,719,669 (GRCm39) probably null Het
Spopfm3 A T 3: 94,106,012 (GRCm39) Q110L probably benign Het
Srbd1 C A 17: 86,308,948 (GRCm39) L743F probably damaging Het
Taar2 A T 10: 23,816,597 (GRCm39) I46F possibly damaging Het
Tmem241 A T 18: 12,237,229 (GRCm39) V69D probably damaging Het
Tns1 T C 1: 73,993,074 (GRCm39) S535G possibly damaging Het
Trgc3 A G 13: 19,445,334 (GRCm39) N94S probably benign Het
Ttc34 C A 4: 154,923,585 (GRCm39) P98Q probably damaging Het
Ubr1 C A 2: 120,693,246 (GRCm39) R1720L probably benign Het
Ubr3 T A 2: 69,846,478 (GRCm39) D1597E probably benign Het
Unc79 T C 12: 103,091,883 (GRCm39) M1930T probably benign Het
Vmn2r100 A T 17: 19,751,576 (GRCm39) I603F not run Het
Vps26b A T 9: 26,921,288 (GRCm39) S304T probably benign Het
Zfp952 A T 17: 33,222,444 (GRCm39) T308S possibly 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
R5331: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
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'- AAGACTTGACTGGCTGGATAC -3'
(R):5'- TACCAAGCTAAAATCCTGGAGGG -3'

Sequencing Primer
(F):5'- CTTTAATCCCAGTACTCGGGAGG -3'
(R):5'- TCCTGGAGGGACACAGTCAG -3'
Posted On 2019-06-26