Incidental Mutation 'R4450:Lmo2'
ID 328910
Institutional Source Beutler Lab
Gene Symbol Lmo2
Ensembl Gene ENSMUSG00000032698
Gene Name LIM domain only 2
Synonyms Rbtn2, Rhom-2, Rbtn-2
MMRRC Submission 041711-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4450 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103788340-103812223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103811407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 147 (Y147H)
Ref Sequence ENSEMBL: ENSMUSP00000106769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111139] [ENSMUST00000111140] [ENSMUST00000111143] [ENSMUST00000123437] [ENSMUST00000170926] [ENSMUST00000156813] [ENSMUST00000138815]
AlphaFold P25801
Predicted Effect probably damaging
Transcript: ENSMUST00000111139
AA Change: Y147H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: Y147H

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 possibly damaging
Transcript: ENSMUST00000111140
AA Change: Y219H

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: Y219H

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: Y211H

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: Y211H

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 possibly damaging
Transcript: ENSMUST00000123437
AA Change: Y149H

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: Y149H

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 possibly damaging
Transcript: ENSMUST00000170926
AA Change: Y149H

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: Y149H

DomainStartEndE-ValueType
LIM 29 83 4.03e-10 SMART
LIM 93 147 1.71e-13 SMART
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: ENSMUST00000138815
SMART Domains Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698

DomainStartEndE-ValueType
Pfam:LIM 30 59 2.3e-8 PFAM
Meta Mutation Damage Score 0.1446 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
Acsl6 A G 11: 54,219,229 (GRCm39) D278G probably damaging Het
Adamdec1 C T 14: 68,810,568 (GRCm39) R196Q probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Angel1 A T 12: 86,768,698 (GRCm39) Y262N probably damaging Het
Arhgef18 A G 8: 3,487,097 (GRCm39) E272G probably damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Brca2 T G 5: 150,459,518 (GRCm39) D264E probably damaging Het
Cdca4 T C 12: 112,785,278 (GRCm39) N150S probably benign Het
Cep162 T C 9: 87,107,861 (GRCm39) S510G probably damaging Het
Cldn12 T C 5: 5,558,398 (GRCm39) T10A probably damaging Het
Clip2 C T 5: 134,531,807 (GRCm39) G631D possibly damaging Het
Col19a1 T A 1: 24,361,116 (GRCm39) T625S probably damaging Het
Col6a5 C T 9: 105,781,720 (GRCm39) G1635D unknown Het
Dcp1b A G 6: 119,183,437 (GRCm39) T175A probably benign Het
Eln C T 5: 134,754,635 (GRCm39) probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm9894 T A 13: 67,913,199 (GRCm39) noncoding transcript Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Klhl42 G A 6: 146,993,169 (GRCm39) G47D probably benign Het
Lzts2 A T 19: 45,012,032 (GRCm39) K154* probably null Het
Map4k3 C T 17: 80,911,411 (GRCm39) probably null Het
Mlc1 A G 15: 88,847,693 (GRCm39) F285S probably benign Het
Myo5a T A 9: 75,074,458 (GRCm39) M789K probably benign Het
Nbeal1 T A 1: 60,306,933 (GRCm39) S319T probably damaging Het
Nsun4 A T 4: 115,908,453 (GRCm39) Y702* probably null Het
Or8b52 A T 9: 38,577,050 (GRCm39) V30E probably benign Het
Or8g34 G A 9: 39,373,328 (GRCm39) M200I probably benign Het
Osbpl5 T A 7: 143,248,643 (GRCm39) T640S probably benign Het
Plaat1 C T 16: 29,046,976 (GRCm39) T165M possibly damaging Het
Rangrf A T 11: 68,866,010 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,404,786 (GRCm39) probably benign Het
Ros1 C T 10: 51,954,038 (GRCm39) G1867D probably damaging Het
Slc11a1 C A 1: 74,424,694 (GRCm39) probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Syt6 A G 3: 103,492,961 (GRCm39) H156R probably benign Het
Tln2 C T 9: 67,251,347 (GRCm39) probably null Het
Trim58 T C 11: 58,542,191 (GRCm39) W384R probably benign Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown 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
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
R5823:Lmo2 UTSW 2 103,811,417 (GRCm39) missense probably damaging 1.00
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'- TCTGTGCATCCTGTGACAAGC -3'
(R):5'- TTCTCTCTAAGGGCTGGTCC -3'

Sequencing Primer
(F):5'- ATCCTGTGACAAGCGGATC -3'
(R):5'- GAAGTCTCAGCCTTTGCATTATG -3'
Posted On 2015-07-21