Incidental Mutation 'R9018:Mier2'
ID 686153
Institutional Source Beutler Lab
Gene Symbol Mier2
Ensembl Gene ENSMUSG00000042570
Gene Name MIER family member 2
Synonyms 2700087H15Rik
MMRRC Submission 068848-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R9018 (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 79384274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 166 (R166W)
Ref Sequence ENSEMBL: ENSMUSP00000127387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000164895] [ENSMUST00000165028] [ENSMUST00000165778] [ENSMUST00000165866] [ENSMUST00000167183] [ENSMUST00000167689] [ENSMUST00000170018]
AlphaFold Q3U3N0
Predicted Effect probably damaging
Transcript: ENSMUST00000062855
AA Change: R164W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: R164W

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: ENSMUST00000164895
Predicted Effect probably damaging
Transcript: ENSMUST00000165028
AA Change: R166W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: R166W

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: ENSMUST00000165778
Predicted Effect probably benign
Transcript: ENSMUST00000165866
SMART Domains Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 42 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167183
Predicted Effect probably benign
Transcript: ENSMUST00000167689
Predicted Effect probably benign
Transcript: ENSMUST00000170018
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,532 (GRCm39) E1552G probably damaging Het
Abca14 A T 7: 119,888,763 (GRCm39) K1236N probably benign Het
Adam3 A T 8: 25,184,292 (GRCm39) Y569* probably null Het
Adgrb2 A G 4: 129,907,659 (GRCm39) T998A probably benign Het
Adgre4 T A 17: 56,098,993 (GRCm39) H166Q probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Ankrd11 A G 8: 123,622,251 (GRCm39) S534P probably damaging Het
Atn1 C T 6: 124,722,661 (GRCm39) E805K unknown Het
Bsn T C 9: 107,994,488 (GRCm39) T596A probably benign Het
Cacnb4 C T 2: 52,324,706 (GRCm39) R452Q probably benign Het
Cdc123 C A 2: 5,849,683 (GRCm39) A13S probably benign Het
Chd7 G A 4: 8,847,083 (GRCm39) G1609S possibly damaging Het
Cp T A 3: 20,043,316 (GRCm39) C1035S probably damaging Het
Dcaf1 T A 9: 106,742,836 (GRCm39) C1383S probably damaging Het
Derl3 G A 10: 75,729,604 (GRCm39) V54I probably benign Het
Dgcr6 T C 16: 17,884,607 (GRCm39) L25P probably damaging Het
Dmrt2 A G 19: 25,650,985 (GRCm39) E57G probably benign Het
Dnaaf11 A T 15: 66,321,479 (GRCm39) S221T probably benign Het
Dst A G 1: 34,235,140 (GRCm39) K3562E probably damaging Het
Dyrk2 T C 10: 118,696,014 (GRCm39) T415A probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln1 T C 15: 85,126,215 (GRCm39) I484T probably damaging Het
Greb1l T A 18: 10,542,004 (GRCm39) D1250E possibly damaging Het
Ift88 A C 14: 57,675,702 (GRCm39) K72Q probably benign Het
Impg1 T A 9: 80,301,474 (GRCm39) I228F probably benign Het
Itsn2 A G 12: 4,708,091 (GRCm39) N799S possibly damaging Het
Jade1 T A 3: 41,564,292 (GRCm39) C521S probably benign Het
Katna1 T G 10: 7,637,040 (GRCm39) L397R probably damaging Het
Kcnj15 A C 16: 95,097,129 (GRCm39) K250N probably damaging Het
Macc1 A G 12: 119,409,941 (GRCm39) I236M possibly damaging Het
Mapk13 C T 17: 28,996,760 (GRCm39) R276C probably benign Het
Mindy4 C T 6: 55,278,072 (GRCm39) H639Y possibly damaging Het
Mphosph9 A G 5: 124,436,713 (GRCm39) S544P probably benign Het
Muc4 T C 16: 32,582,910 (GRCm39) Y492H Het
Mybbp1a C T 11: 72,334,420 (GRCm39) T225I probably benign Het
Myo6 A T 9: 80,159,086 (GRCm39) K285I unknown Het
Nmd3 G A 3: 69,647,328 (GRCm39) V277I probably benign Het
Nol9 G C 4: 152,123,918 (GRCm39) R36P probably damaging Het
Nom1 A G 5: 29,639,712 (GRCm39) R13G possibly damaging Het
Nudt14 G A 12: 112,902,906 (GRCm39) H40Y probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5b118 A T 19: 13,448,721 (GRCm39) H87L possibly damaging Het
Or8d1b T A 9: 38,887,687 (GRCm39) F238L probably benign Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pgghg A G 7: 140,524,579 (GRCm39) I309V probably benign Het
Phf12 C T 11: 77,914,510 (GRCm39) P651S possibly damaging Het
Pltp A G 2: 164,694,410 (GRCm39) L199P probably damaging Het
Pole T A 5: 110,437,675 (GRCm39) L78I probably benign Het
Ppm1d C A 11: 85,227,961 (GRCm39) H292Q probably damaging Het
Ppp2cb A C 8: 34,105,787 (GRCm39) I224L probably benign Het
Rabggta A T 14: 55,957,880 (GRCm39) I171N probably damaging Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Rb1cc1 G A 1: 6,319,490 (GRCm39) E970K probably benign Het
Rnh1 A T 7: 140,748,544 (GRCm39) V11D probably benign Het
Robo4 C T 9: 37,315,520 (GRCm39) T288I probably benign Het
Scmh1 A G 4: 120,362,514 (GRCm39) D250G probably benign Het
Sele T A 1: 163,881,248 (GRCm39) C483S probably damaging Het
Slc12a6 A G 2: 112,174,585 (GRCm39) probably benign Het
Slc5a4a A G 10: 76,002,546 (GRCm39) E234G possibly damaging Het
Smarca5 A G 8: 81,431,355 (GRCm39) L954P probably damaging Het
St7 T A 6: 17,906,494 (GRCm39) N413K probably damaging Het
Stam2 C T 2: 52,606,463 (GRCm39) V141I probably benign Het
Stim1 C T 7: 102,060,482 (GRCm39) T175I probably benign Het
Strap A G 6: 137,716,811 (GRCm39) N130S probably benign Het
Stxbp2 A G 8: 3,692,627 (GRCm39) probably benign Het
Sult3a2 T A 10: 33,655,689 (GRCm39) I97F probably benign Het
Tbc1d32 A T 10: 55,948,693 (GRCm39) N965K probably benign Het
Tle3 T A 9: 61,319,750 (GRCm39) I506N probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tvp23a A G 16: 10,264,846 (GRCm39) S22P probably damaging Het
Vmn2r82 A G 10: 79,232,539 (GRCm39) N846S probably damaging Het
Vmn2r83 A G 10: 79,316,020 (GRCm39) N472S probably damaging Het
Xpo7 G A 14: 70,944,864 (GRCm39) Q10* probably null Het
Zfp423 G C 8: 88,508,381 (GRCm39) S654R probably benign Het
Zfp646 A T 7: 127,478,243 (GRCm39) H140L probably benign Het
Zfp719 C A 7: 43,233,489 (GRCm39) probably benign 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
R6971:Mier2 UTSW 10 79,378,263 (GRCm39) missense possibly damaging 0.53
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
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'- TGAAGAGTAACCACGCAGCC -3'
(R):5'- CCATGGTGACTCATAGTGGTG -3'

Sequencing Primer
(F):5'- GAGTAACCACGCAGCCATATAGG -3'
(R):5'- AGATAGGAATGGGTCTCTGCC -3'
Posted On 2021-10-11