Incidental Mutation 'R5823:Lmo2'
ID 450015
Institutional Source Beutler Lab
Gene Symbol Lmo2
Ensembl Gene ENSMUSG00000032698
Gene Name LIM domain only 2
Synonyms Rbtn2, Rhom-2, Rbtn-2
MMRRC Submission 043215-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5823 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103788340-103812223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103811417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 150 (T150I)
Ref Sequence ENSEMBL: ENSMUSP00000106769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111139] [ENSMUST00000111140] [ENSMUST00000111143] [ENSMUST00000123437] [ENSMUST00000170926] [ENSMUST00000138815] [ENSMUST00000156813]
AlphaFold P25801
Predicted Effect probably damaging
Transcript: ENSMUST00000111139
AA Change: T150I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: T150I

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 damaging
Transcript: ENSMUST00000111140
AA Change: T222I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: T222I

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 damaging
Transcript: ENSMUST00000111143
AA Change: T214I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: T214I

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 damaging
Transcript: ENSMUST00000123437
AA Change: T152I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: T152I

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 damaging
Transcript: ENSMUST00000170926
AA Change: T152I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: T152I

DomainStartEndE-ValueType
LIM 29 83 4.03e-10 SMART
LIM 93 147 1.71e-13 SMART
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acsl3 G T 1: 78,666,003 (GRCm39) R143L probably benign Het
Ankrd11 A T 8: 123,622,529 (GRCm39) I420K probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Cwh43 A G 5: 73,569,213 (GRCm39) E85G probably benign Het
Dnah1 G T 14: 30,988,375 (GRCm39) F3442L possibly damaging Het
Dock6 T A 9: 21,716,124 (GRCm39) N1737I probably damaging Het
Fcf1 A G 12: 85,020,921 (GRCm39) Y55C possibly damaging Het
Fer1l6 T A 15: 58,462,352 (GRCm39) Y802* probably null Het
Fgf9 T G 14: 58,320,759 (GRCm39) S10A probably damaging Het
Fhad1 A G 4: 141,682,617 (GRCm39) I508T possibly damaging Het
Flnc T C 6: 29,461,201 (GRCm39) V2692A probably damaging Het
Gm38119 G T 3: 92,645,380 (GRCm39) H71Q unknown Het
Hcn1 A T 13: 117,739,388 (GRCm39) H50L unknown Het
Helz2 T C 2: 180,878,189 (GRCm39) T870A possibly damaging Het
Iqcf4 T C 9: 106,445,800 (GRCm39) I116V probably benign Het
Lama5 T A 2: 179,834,285 (GRCm39) I1383F probably benign Het
Mgat4f T A 1: 134,318,655 (GRCm39) W476R probably damaging Het
Myh13 A G 11: 67,251,294 (GRCm39) E1391G probably damaging Het
Mylk T A 16: 34,715,317 (GRCm39) probably null Het
Nat10 A T 2: 103,560,612 (GRCm39) V731D probably damaging Het
Ncapd2 A G 6: 125,145,663 (GRCm39) V1328A probably benign Het
Nfu1 C A 6: 87,002,541 (GRCm39) Q207K probably damaging Het
Nipsnap2 T A 5: 129,816,833 (GRCm39) probably null Het
Npc1 T C 18: 12,324,846 (GRCm39) K1216E possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Phf3 T C 1: 30,843,764 (GRCm39) I1732V probably damaging Het
Rasgrp4 G T 7: 28,837,142 (GRCm39) R67L probably benign Het
Rubcn T C 16: 32,670,091 (GRCm39) D88G probably damaging Het
Slc30a2 T C 4: 134,073,289 (GRCm39) I112T probably damaging Het
Slc35d2 A G 13: 64,268,419 (GRCm39) I78T probably damaging Het
Slc9a4 T A 1: 40,658,277 (GRCm39) M600K probably damaging Het
Slfn8 A G 11: 82,907,562 (GRCm39) I327T probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tex15 A G 8: 34,060,962 (GRCm39) I405V possibly damaging Het
Thsd7b T C 1: 129,605,821 (GRCm39) S521P probably benign Het
Trim36 A G 18: 46,302,407 (GRCm39) L535P probably damaging Het
Trim63 A T 4: 134,043,842 (GRCm39) I102F probably damaging Het
Wdr47 G A 3: 108,550,401 (GRCm39) V809M probably damaging Het
Other mutations in Lmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Lmo2 APN 2 103,811,432 (GRCm39) missense probably benign 0.21
R1983:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2013:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2014:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2131:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2132:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2133:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2233:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2235:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R2510:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R3038:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R3813:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4058:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4059:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4448:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4450:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4544:Lmo2 UTSW 2 103,806,382 (GRCm39) missense probably damaging 1.00
R4805:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4808:Lmo2 UTSW 2 103,811,407 (GRCm39) missense probably damaging 0.99
R4975:Lmo2 UTSW 2 103,806,488 (GRCm39) nonsense probably null
R5310:Lmo2 UTSW 2 103,806,445 (GRCm39) missense probably damaging 0.98
R6267:Lmo2 UTSW 2 103,800,946 (GRCm39) missense possibly damaging 0.86
R6296:Lmo2 UTSW 2 103,800,946 (GRCm39) missense possibly damaging 0.86
R6949:Lmo2 UTSW 2 103,801,018 (GRCm39) start codon destroyed probably null 0.53
R8051:Lmo2 UTSW 2 103,801,045 (GRCm39) missense possibly damaging 0.95
R8719:Lmo2 UTSW 2 103,811,264 (GRCm39) missense probably damaging 0.98
R8746:Lmo2 UTSW 2 103,806,384 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CATCCTGTGACAAGCGGATC -3'
(R):5'- AATTCTCTCTAAGGGCTGGTCC -3'

Sequencing Primer
(F):5'- ATCCGTGCCTATGAGATGACG -3'
(R):5'- GAAGTCTCAGCCTTTGCATTATG -3'
Posted On 2016-12-20