Incidental Mutation 'R2235:Lmo2'
ID |
240372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmo2
|
Ensembl Gene |
ENSMUSG00000032698 |
Gene Name |
LIM domain only 2 |
Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
MMRRC Submission |
040236-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2235 (G1)
|
Quality Score |
225 |
Status
|
Not 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]
[ENSMUST00000138815]
[ENSMUST00000170926]
[ENSMUST00000156813]
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:LIM
|
30 |
59 |
2.3e-8 |
PFAM |
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
LIM
|
29 |
83 |
4.03e-10 |
SMART |
LIM
|
93 |
144 |
1.36e-7 |
SMART |
|
Meta Mutation Damage Score |
0.1446 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
probably benign |
Het |
|
Other mutations in Lmo2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- CTGTGCATCCTGTGACAAGC -3'
(R):5'- AAATTCTCTCTAAGGGCTGGTCC -3'
Sequencing Primer
(F):5'- ATCCTGTGACAAGCGGATC -3'
(R):5'- GAAGTCTCAGCCTTTGCATTATG -3'
|
Posted On |
2014-10-15 |