Incidental Mutation 'IGL02631:Lmo2'
ID301314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmo2
Ensembl Gene ENSMUSG00000032698
Gene NameLIM domain only 2
SynonymsRbtn2, Rhom-2, Rbtn-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02631
Quality Score
Status
Chromosome2
Chromosomal Location103957986-103981878 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103981087 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 155 (I155T)
Ref Sequence ENSEMBL: ENSMUSP00000106769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111139] [ENSMUST00000111140] [ENSMUST00000111143] [ENSMUST00000123437] [ENSMUST00000138815] [ENSMUST00000156813] [ENSMUST00000170926]
Predicted Effect probably benign
Transcript: ENSMUST00000111139
AA Change: I155T

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: I155T

DomainStartEndE-ValueType
low complexity region 22 44 N/A INTRINSIC
low complexity region 60 73 N/A INTRINSIC
LIM 91 145 1.71e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111140
AA Change: I227T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: I227T

DomainStartEndE-ValueType
low complexity region 22 44 N/A INTRINSIC
low complexity region 60 73 N/A INTRINSIC
LIM 99 153 4.03e-10 SMART
LIM 163 217 1.71e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111143
AA Change: I219T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: I219T

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
LIM 91 145 4.03e-10 SMART
LIM 155 209 1.71e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123437
AA Change: I157T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: I157T

DomainStartEndE-ValueType
LIM 29 83 4.03e-10 SMART
LIM 93 147 1.71e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133210
Predicted Effect probably benign
Transcript: ENSMUST00000138815
SMART Domains Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698

DomainStartEndE-ValueType
Pfam:LIM 30 59 2.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156813
SMART Domains Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698

DomainStartEndE-ValueType
LIM 29 83 4.03e-10 SMART
LIM 93 144 1.36e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170926
AA Change: I157T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: I157T

DomainStartEndE-ValueType
LIM 29 83 4.03e-10 SMART
LIM 93 147 1.71e-13 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit lack of yolk sac erythropoiesis and die around embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,748,545 S1242P probably damaging Het
Bglap A T 3: 88,383,680 Y81* probably null Het
Ccdc83 T C 7: 90,244,069 D160G possibly damaging Het
Cep97 A T 16: 55,922,178 C135* probably null Het
Cog1 C T 11: 113,656,478 Q633* probably null Het
Cyp4f40 A T 17: 32,675,635 probably benign Het
Dennd2c T A 3: 103,156,071 M608K possibly damaging Het
Enpp1 A G 10: 24,641,961 S855P probably damaging Het
Eprs T C 1: 185,427,898 I1457T probably damaging Het
Fam149b G A 14: 20,375,546 V300M probably damaging Het
Fcgbp T A 7: 28,085,298 L261Q probably damaging Het
Flt1 G T 5: 147,673,574 S413* probably null Het
Flt3 T G 5: 147,344,552 D790A probably damaging Het
Gpat2 A G 2: 127,434,232 probably benign Het
Gpr151 T C 18: 42,578,770 K281R probably benign Het
Hoxa5 G A 6: 52,203,810 R181C probably damaging Het
Irx4 C T 13: 73,268,477 R331W probably damaging Het
Nbeal2 G A 9: 110,630,208 R1944C probably damaging Het
Obp2b A G 2: 25,739,243 N141S probably damaging Het
Olfr1257 T A 2: 89,881,255 V143E possibly damaging Het
Olfr140 T A 2: 90,051,442 N294I probably damaging Het
Papss2 T A 19: 32,634,004 probably benign Het
Rapgef2 A T 3: 79,083,226 M915K possibly damaging Het
Raver2 A C 4: 101,096,302 D89A probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Setd2 A G 9: 110,550,576 D1153G possibly damaging Het
Slc25a12 C T 2: 71,296,742 G365E possibly damaging Het
Slc35e4 A C 11: 3,907,729 V292G probably damaging Het
Slc36a4 T C 9: 15,726,941 V221A probably damaging Het
Slc7a14 C A 3: 31,238,678 A153S probably damaging Het
Smc1b T C 15: 85,107,003 D658G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab3 A G X: 85,614,533 N222S probably benign Het
Tdrd6 T A 17: 43,626,219 T1313S probably damaging Het
Tnfrsf1b A T 4: 145,224,828 C181S probably damaging Het
Trdn A T 10: 33,363,976 probably null Het
Trip12 A T 1: 84,766,008 V526E possibly damaging Het
Trps1 T C 15: 50,846,021 D311G probably damaging Het
Ttf1 A G 2: 29,069,900 I507V probably damaging Het
Unc80 A C 1: 66,530,063 D959A probably damaging Het
Unc93b1 T C 19: 3,942,026 probably benign Het
Utrn A G 10: 12,710,063 F990S probably benign Het
V1rd19 T C 7: 24,003,400 L97P probably damaging Het
Other mutations in Lmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1983:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2013:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2014:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2131:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2132:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2133:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2233:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2235:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R2510:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R3038:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R3813:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4058:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4059:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4448:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4450:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4544:Lmo2 UTSW 2 103976037 missense probably damaging 1.00
R4805:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4808:Lmo2 UTSW 2 103981062 missense probably damaging 0.99
R4975:Lmo2 UTSW 2 103976143 nonsense probably null
R5310:Lmo2 UTSW 2 103976100 missense probably damaging 0.98
R5823:Lmo2 UTSW 2 103981072 missense probably damaging 1.00
R6267:Lmo2 UTSW 2 103970601 missense possibly damaging 0.86
R6296:Lmo2 UTSW 2 103970601 missense possibly damaging 0.86
R6949:Lmo2 UTSW 2 103970673 start codon destroyed probably null 0.53
Posted On2015-04-16