Incidental Mutation 'R1333:Mier2'
ID 156784
Institutional Source Beutler Lab
Gene Symbol Mier2
Ensembl Gene ENSMUSG00000042570
Gene Name MIER family member 2
Synonyms 2700087H15Rik
MMRRC Submission 039398-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R1333 (G1)
Quality Score 179
Status Validated
Chromosome 10
Chromosomal Location 79376079-79391033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79380991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000127387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062855] [ENSMUST00000164895] [ENSMUST00000165028] [ENSMUST00000165778] [ENSMUST00000165866] [ENSMUST00000167183] [ENSMUST00000167689] [ENSMUST00000170018] [ENSMUST00000172158]
AlphaFold Q3U3N0
Predicted Effect probably benign
Transcript: ENSMUST00000062855
AA Change: V229A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: V229A

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 benign
Transcript: ENSMUST00000165028
AA Change: V231A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: V231A

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 noncoding transcript
Transcript: ENSMUST00000168601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167760
Predicted Effect probably benign
Transcript: ENSMUST00000167689
Predicted Effect probably benign
Transcript: ENSMUST00000170018
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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 90.3%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A G 8: 114,431,805 (GRCm39) probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Amt A G 9: 108,178,296 (GRCm39) D301G probably benign Het
Arhgef26 T C 3: 62,247,744 (GRCm39) V276A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc63 T C 5: 122,246,224 (GRCm39) T566A probably benign Het
Cdk5rap1 A G 2: 154,202,574 (GRCm39) S219P probably damaging Het
Col1a2 T A 6: 4,515,684 (GRCm39) probably null Het
Ctns G A 11: 73,075,823 (GRCm39) T342I probably benign Het
Dst G A 1: 34,267,428 (GRCm39) E4957K probably damaging Het
Elp1 C T 4: 56,770,969 (GRCm39) probably benign Het
Fam163b A G 2: 27,003,659 (GRCm39) probably benign Het
Frem2 T C 3: 53,457,152 (GRCm39) T2067A probably benign Het
Gm7353 C T 7: 3,159,066 (GRCm39) noncoding transcript Het
Gm9791 T C 3: 34,059,225 (GRCm39) noncoding transcript Het
Grik2 G T 10: 49,404,087 (GRCm39) T258N probably damaging Het
Herc3 T C 6: 58,864,478 (GRCm39) L704P probably damaging Het
Hjurp A C 1: 88,193,768 (GRCm39) V380G probably damaging Het
Lrrc56 A G 7: 140,778,177 (GRCm39) probably benign Het
Mast3 G A 8: 71,233,938 (GRCm39) P187S probably damaging Het
Muc5b A G 7: 141,422,144 (GRCm39) T4427A possibly damaging Het
Nox4 A G 7: 86,896,072 (GRCm39) S7G possibly damaging Het
Obscn G C 11: 58,971,143 (GRCm39) Q2457E probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,812,611 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat6 G C 10: 127,487,094 (GRCm39) R200S possibly damaging Het
Stxbp5l C A 16: 37,068,231 (GRCm39) probably null Het
Tanc1 A G 2: 59,673,835 (GRCm39) S1647G probably benign Het
Tmem132d T A 5: 127,861,923 (GRCm39) M733L probably benign Het
Unc13d A G 11: 115,964,381 (GRCm39) probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Vmn1r9 T C 6: 57,048,615 (GRCm39) I230T probably damaging Het
Zscan20 T C 4: 128,481,889 (GRCm39) D591G possibly 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
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
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'- TGACATGGAACACTGACACCACTG -3'
(R):5'- GACTTTTCCCTGAGTGCCCATAGC -3'

Sequencing Primer
(F):5'- CTCTCACAAGTGGGTTCAATG -3'
(R):5'- AGTGCCCATAGCCAGCTTG -3'
Posted On 2014-02-11