Incidental Mutation 'R6971:Mier2'
ID 542256
Institutional Source Beutler Lab
Gene Symbol Mier2
Ensembl Gene ENSMUSG00000042570
Gene Name MIER family member 2
Synonyms 2700087H15Rik
MMRRC Submission 045081-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R6971 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79376079-79391033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79378263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 385 (H385Y)
Ref Sequence ENSEMBL: ENSMUSP00000059864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000165028] [ENSMUST00000172158]
AlphaFold Q3U3N0
Predicted Effect possibly damaging
Transcript: ENSMUST00000062855
AA Change: H385Y

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: H385Y

DomainStartEndE-ValueType
ELM2 194 246 1.46e-9 SMART
SANT 295 344 6.01e-8 SMART
low complexity region 441 458 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165028
AA Change: H387Y

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: H387Y

DomainStartEndE-ValueType
ELM2 196 248 1.46e-9 SMART
SANT 297 346 6.01e-8 SMART
low complexity region 443 460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172158
SMART Domains Protein: ENSMUSP00000129732
Gene: ENSMUSG00000042570

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
low complexity region 230 244 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,903 (GRCm39) T32S possibly damaging Het
2210408I21Rik A G 13: 77,341,306 (GRCm39) S52G possibly damaging Het
Aadacl4 G A 4: 144,349,303 (GRCm39) V187M probably damaging Het
Adprhl1 T A 8: 13,273,476 (GRCm39) Q1094L probably benign Het
Amigo1 C T 3: 108,095,452 (GRCm39) S317L probably benign Het
Brca1 A G 11: 101,424,831 (GRCm39) F32L probably benign Het
C1qtnf7 T A 5: 43,766,392 (GRCm39) probably null Het
Ccdc88c A T 12: 100,920,486 (GRCm39) D378E probably damaging Het
Ccdc97 G T 7: 25,414,384 (GRCm39) Y123* probably null Het
Cdk10 T A 8: 123,954,413 (GRCm39) M46K probably damaging Het
Dsc3 A G 18: 20,099,275 (GRCm39) probably null Het
Ephx3 T A 17: 32,407,177 (GRCm39) N254Y possibly damaging Het
Fnip2 G A 3: 79,388,428 (GRCm39) R768* probably null Het
Glra1 A T 11: 55,427,325 (GRCm39) Y3* probably null Het
Gltpd2 A G 11: 70,411,290 (GRCm39) T194A probably damaging Het
Hectd1 A T 12: 51,795,526 (GRCm39) L2301* probably null Het
Hmcn1 T A 1: 150,868,802 (GRCm39) M1L probably benign Het
Hmcn2 G A 2: 31,322,333 (GRCm39) E4133K probably benign Het
Hps3 A T 3: 20,065,699 (GRCm39) L714I probably damaging Het
Igfbpl1 A G 4: 45,816,333 (GRCm39) V164A possibly damaging Het
Ip6k2 T C 9: 108,674,510 (GRCm39) probably benign Het
Itgb8 A T 12: 119,154,366 (GRCm39) Y224N probably damaging Het
Kcnt2 T C 1: 140,440,646 (GRCm39) L624S probably benign Het
Mdga2 A G 12: 66,597,335 (GRCm39) Y720H probably damaging Het
Msl2 T C 9: 100,978,042 (GRCm39) F139L probably benign Het
Nuggc T C 14: 65,846,305 (GRCm39) V72A probably benign Het
Or9k2b A T 10: 130,016,638 (GRCm39) V37E possibly damaging Het
Pde2a T A 7: 101,159,520 (GRCm39) Y783* probably null Het
Pfkfb2 A G 1: 130,628,533 (GRCm39) Y358H probably damaging Het
Pou2f1 A G 1: 165,759,258 (GRCm39) S23P probably damaging Het
Prrc2a T C 17: 35,378,477 (GRCm39) probably null Het
Prss36 T C 7: 127,544,410 (GRCm39) T92A probably benign Het
Rnft2 A G 5: 118,332,635 (GRCm39) probably benign Het
Sbno2 A G 10: 79,895,868 (GRCm39) V971A possibly damaging Het
Sec63 A G 10: 42,659,438 (GRCm39) E42G probably damaging Het
Setdb2 A T 14: 59,653,189 (GRCm39) L371Q probably damaging Het
Shprh A T 10: 11,042,437 (GRCm39) I807F probably damaging Het
Slc3a2 T C 19: 8,686,974 (GRCm39) probably null Het
Srbd1 T C 17: 86,406,718 (GRCm39) I556V possibly damaging Het
Stim2 T A 5: 54,275,641 (GRCm39) C605* probably null Het
Tecrl T C 5: 83,502,649 (GRCm39) T67A possibly damaging Het
Ttc33 C A 15: 5,241,523 (GRCm39) A116E probably damaging Het
Ttn G A 2: 76,772,393 (GRCm39) T2503I possibly damaging Het
Ubp1 T C 9: 113,801,831 (GRCm39) I468T probably damaging Het
Urgcp A T 11: 5,668,115 (GRCm39) H74Q probably benign Het
Vcan A G 13: 89,826,252 (GRCm39) I2224T probably damaging Het
Vmn1r8 T A 6: 57,013,400 (GRCm39) N150K probably damaging Het
Vmn2r3 A G 3: 64,166,668 (GRCm39) M821T probably damaging Het
Zfp777 C A 6: 48,001,625 (GRCm39) A866S probably damaging Het
Other mutations in Mier2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Mier2 APN 10 79,377,014 (GRCm39) makesense probably null
IGL01761:Mier2 APN 10 79,384,186 (GRCm39) critical splice donor site probably null
IGL01845:Mier2 APN 10 79,385,418 (GRCm39) missense possibly damaging 0.69
IGL02336:Mier2 APN 10 79,384,184 (GRCm39) unclassified probably benign
IGL02882:Mier2 APN 10 79,383,555 (GRCm39) missense probably damaging 1.00
IGL02902:Mier2 APN 10 79,385,456 (GRCm39) missense probably damaging 1.00
R0325:Mier2 UTSW 10 79,378,430 (GRCm39) critical splice donor site probably null
R0972:Mier2 UTSW 10 79,380,455 (GRCm39) unclassified probably benign
R1326:Mier2 UTSW 10 79,380,543 (GRCm39) missense probably damaging 1.00
R1333:Mier2 UTSW 10 79,380,991 (GRCm39) missense probably benign 0.03
R1721:Mier2 UTSW 10 79,384,664 (GRCm39) missense probably damaging 1.00
R1867:Mier2 UTSW 10 79,384,664 (GRCm39) missense probably damaging 1.00
R1868:Mier2 UTSW 10 79,384,664 (GRCm39) missense probably damaging 1.00
R2015:Mier2 UTSW 10 79,377,036 (GRCm39) splice site probably null
R2273:Mier2 UTSW 10 79,380,368 (GRCm39) missense probably damaging 1.00
R2274:Mier2 UTSW 10 79,380,368 (GRCm39) missense probably damaging 1.00
R3729:Mier2 UTSW 10 79,380,876 (GRCm39) unclassified probably benign
R3874:Mier2 UTSW 10 79,377,631 (GRCm39) missense possibly damaging 0.49
R3881:Mier2 UTSW 10 79,384,584 (GRCm39) splice site probably null
R4755:Mier2 UTSW 10 79,385,031 (GRCm39) missense probably damaging 1.00
R4758:Mier2 UTSW 10 79,386,182 (GRCm39) missense probably damaging 1.00
R5070:Mier2 UTSW 10 79,385,411 (GRCm39) missense probably benign 0.03
R6282:Mier2 UTSW 10 79,380,576 (GRCm39) missense probably damaging 1.00
R6785:Mier2 UTSW 10 79,380,547 (GRCm39) missense probably damaging 1.00
R6861:Mier2 UTSW 10 79,376,990 (GRCm39) start gained probably benign
R6869:Mier2 UTSW 10 79,378,503 (GRCm39) missense probably damaging 0.99
R6897:Mier2 UTSW 10 79,380,573 (GRCm39) missense probably damaging 0.99
R6902:Mier2 UTSW 10 79,376,673 (GRCm39) utr 3 prime probably benign
R6946:Mier2 UTSW 10 79,376,673 (GRCm39) utr 3 prime probably benign
R6968:Mier2 UTSW 10 79,376,476 (GRCm39) utr 3 prime probably benign
R7072:Mier2 UTSW 10 79,376,133 (GRCm39) missense unknown
R7350:Mier2 UTSW 10 79,376,132 (GRCm39) missense unknown
R7443:Mier2 UTSW 10 79,376,289 (GRCm39) missense unknown
R7506:Mier2 UTSW 10 79,386,176 (GRCm39) missense probably benign 0.14
R7545:Mier2 UTSW 10 79,377,028 (GRCm39) missense possibly damaging 0.79
R7625:Mier2 UTSW 10 79,378,543 (GRCm39) missense probably damaging 1.00
R7669:Mier2 UTSW 10 79,385,510 (GRCm39) missense probably damaging 1.00
R7895:Mier2 UTSW 10 79,377,719 (GRCm39) start gained probably benign
R8494:Mier2 UTSW 10 79,377,546 (GRCm39) missense probably damaging 1.00
R8520:Mier2 UTSW 10 79,378,263 (GRCm39) missense possibly damaging 0.53
R8834:Mier2 UTSW 10 79,386,293 (GRCm39) missense unknown
R8978:Mier2 UTSW 10 79,376,790 (GRCm39) missense unknown
R9005:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9007:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9008:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9018:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9051:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9052:Mier2 UTSW 10 79,384,274 (GRCm39) missense probably damaging 0.99
R9108:Mier2 UTSW 10 79,377,756 (GRCm39) missense probably benign 0.01
R9111:Mier2 UTSW 10 79,381,285 (GRCm39) unclassified probably benign
R9121:Mier2 UTSW 10 79,377,594 (GRCm39) missense
R9281:Mier2 UTSW 10 79,378,294 (GRCm39) missense probably benign 0.06
R9514:Mier2 UTSW 10 79,377,496 (GRCm39) missense probably benign 0.00
Z1176:Mier2 UTSW 10 79,376,335 (GRCm39) missense unknown
Z1177:Mier2 UTSW 10 79,376,295 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCATGTCCCCTGTGTGAATG -3'
(R):5'- GACTACTTTGCCCAGCAGAC -3'

Sequencing Primer
(F):5'- ATGTCCCCTGTGTGAATGTACTTCTG -3'
(R):5'- AGGAAGTTTGTCTCCTCTGGAACC -3'
Posted On 2018-11-28