Incidental Mutation 'R6949:Lmo2'
| ID |
543227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmo2
|
| Ensembl Gene |
ENSMUSG00000032698 |
| Gene Name |
LIM domain only 2 |
| Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
| MMRRC Submission |
045061-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6949 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103788340-103812223 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 103801018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111139]
[ENSMUST00000111140]
[ENSMUST00000111143]
[ENSMUST00000123437]
[ENSMUST00000138815]
[ENSMUST00000156813]
[ENSMUST00000170926]
|
| AlphaFold |
P25801 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000111139
AA Change: M71K
|
| SMART Domains |
Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: M71K
| 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 |
probably benign
Transcript: ENSMUST00000111140
AA Change: M71K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: M71K
| 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: M63K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: M63K
| 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 |
probably null
Transcript: ENSMUST00000123437
AA Change: M1K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138815
AA Change: M1K
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM
|
30 |
59 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156813
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
144 |
1.36e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170926
AA Change: M1K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
T |
3: 126,804,533 (GRCm39) |
D679E |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,058 (GRCm39) |
Y96N |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,110,757 (GRCm39) |
I35V |
probably benign |
Het |
| Col16a1 |
A |
G |
4: 129,953,116 (GRCm39) |
E424G |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,930,666 (GRCm39) |
G82W |
probably damaging |
Het |
| Cxcr4 |
T |
C |
1: 128,517,352 (GRCm39) |
D101G |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,884,138 (GRCm39) |
N635K |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,382,913 (GRCm39) |
M282T |
probably damaging |
Het |
| Dpysl4 |
G |
A |
7: 138,671,915 (GRCm39) |
E172K |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,799,896 (GRCm39) |
T2931P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,855,829 (GRCm39) |
I211T |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,211,144 (GRCm39) |
W386R |
probably benign |
Het |
| Garin1b |
T |
A |
6: 29,323,905 (GRCm39) |
I210N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,623,265 (GRCm39) |
K146R |
probably benign |
Het |
| Grm7 |
C |
A |
6: 111,472,690 (GRCm39) |
P843Q |
probably damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,248,726 (GRCm39) |
D171G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,876,303 (GRCm39) |
S59P |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,090 (GRCm39) |
T411S |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,484,611 (GRCm39) |
|
probably null |
Het |
| Krcc1 |
T |
C |
6: 71,261,135 (GRCm39) |
Y56H |
probably benign |
Het |
| Lrit3 |
G |
A |
3: 129,582,934 (GRCm39) |
T351I |
probably damaging |
Het |
| Mcu |
T |
G |
10: 59,292,566 (GRCm39) |
T38P |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,820,688 (GRCm39) |
I89N |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,226,725 (GRCm39) |
C996S |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,640,597 (GRCm39) |
E350G |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,792 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,996 (GRCm39) |
E818G |
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,794,143 (GRCm39) |
Q210K |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,351 (GRCm39) |
V250M |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,456,736 (GRCm39) |
C218S |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,617,853 (GRCm39) |
R3228H |
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,744,938 (GRCm39) |
T518S |
probably benign |
Het |
| Rdh8 |
T |
A |
9: 20,734,003 (GRCm39) |
V63D |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,470 (GRCm39) |
V196A |
possibly damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,594,580 (GRCm39) |
V1271A |
probably benign |
Het |
| Serac1 |
C |
A |
17: 6,102,090 (GRCm39) |
D395Y |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,771 (GRCm39) |
D2655G |
probably benign |
Het |
| Tm4sf19 |
T |
C |
16: 32,224,676 (GRCm39) |
V8A |
probably benign |
Het |
| Usp3 |
A |
T |
9: 66,427,972 (GRCm39) |
D334E |
probably benign |
Het |
| Uty |
C |
T |
Y: 1,240,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,542 (GRCm39) |
N672D |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,100 (GRCm39) |
L751H |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,254,616 (GRCm39) |
S300G |
probably damaging |
Het |
| Zp3r |
G |
T |
1: 130,505,632 (GRCm39) |
S508R |
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 |
|
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 |
|
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 |
|
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'- AGCTGGATGATTCGCTCTC -3'
(R):5'- TCGGTGTTTCCAGAGTCACC -3'
Sequencing Primer
(F):5'- GCGTTTGAAGGGAGCGC -3'
(R):5'- TTTCCAGAGTCACCCGCGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation