Incidental Mutation 'R8051:Lmo2'
| ID |
619039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmo2
|
| Ensembl Gene |
ENSMUSG00000032698 |
| Gene Name |
LIM domain only 2 |
| Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
| MMRRC Submission |
067488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103788340-103812223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103801045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 80
(L80Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106770
(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: L80Q
|
| SMART Domains |
Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: L80Q
| 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: L80Q
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: L80Q
| 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 |
possibly damaging
Transcript: ENSMUST00000111143
AA Change: L72Q
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: L72Q
| 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: L10Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: L10Q
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138815
AA Change: L10Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698
AA Change: L10Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM
|
30 |
59 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156813
AA Change: L10Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698
AA Change: L10Q
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
144 |
1.36e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170926
AA Change: L10Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: L10Q
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
29 |
83 |
4.03e-10 |
SMART |
|
LIM
|
93 |
147 |
1.71e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,750,527 (GRCm39) |
L1766Q |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,113 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,684,445 (GRCm39) |
I472F |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,244,309 (GRCm39) |
F35S |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,164,238 (GRCm39) |
|
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,473 (GRCm39) |
D346E |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,583,705 (GRCm39) |
C88S |
probably damaging |
Het |
| Cavin2 |
A |
T |
1: 51,340,283 (GRCm39) |
Q320L |
probably benign |
Het |
| Chtf18 |
C |
A |
17: 25,942,453 (GRCm39) |
V462L |
probably benign |
Het |
| Crisp3 |
A |
T |
17: 40,543,451 (GRCm39) |
S134R |
probably benign |
Het |
| Dlg4 |
C |
A |
11: 69,922,468 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
A |
T |
18: 20,114,270 (GRCm39) |
M328K |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,526,095 (GRCm39) |
D73E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,148,383 (GRCm39) |
A2622T |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,519,501 (GRCm39) |
H938R |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,295,765 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,608,083 (GRCm39) |
V935A |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,442,776 (GRCm39) |
N2587S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gm36864 |
A |
T |
7: 43,891,976 (GRCm39) |
I385F |
probably benign |
Het |
| Il17re |
G |
T |
6: 113,436,328 (GRCm39) |
R47L |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,760,578 (GRCm39) |
|
probably null |
Het |
| Irf4 |
A |
G |
13: 30,945,456 (GRCm39) |
I401V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,400,265 (GRCm39) |
L342S |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,748,384 (GRCm39) |
C390S |
possibly damaging |
Het |
| Klhl22 |
A |
T |
16: 17,610,443 (GRCm39) |
I565F |
probably damaging |
Het |
| Krt26 |
A |
T |
11: 99,228,672 (GRCm39) |
L20Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,012,375 (GRCm39) |
V384A |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,393,952 (GRCm39) |
E491A |
possibly damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,288 (GRCm39) |
M51K |
probably damaging |
Het |
| Or11g26 |
C |
A |
14: 50,753,100 (GRCm39) |
N146K |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,213 (GRCm39) |
G39R |
probably damaging |
Het |
| Plppr3 |
T |
A |
10: 79,702,838 (GRCm39) |
T142S |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Rap1gap2 |
G |
T |
11: 74,286,651 (GRCm39) |
R550S |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,623 (GRCm39) |
N279D |
probably damaging |
Het |
| Rhox9 |
C |
T |
X: 36,990,253 (GRCm39) |
G40R |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,957,502 (GRCm39) |
T268I |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,120 (GRCm39) |
M426T |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,827,063 (GRCm39) |
Y220F |
|
Het |
| Spns1 |
T |
C |
7: 125,971,708 (GRCm39) |
T281A |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,920,171 (GRCm39) |
R2288C |
probably damaging |
Het |
| Tacstd2 |
T |
C |
6: 67,512,383 (GRCm39) |
D103G |
probably damaging |
Het |
| Tmem121 |
C |
T |
12: 113,152,487 (GRCm39) |
A235V |
probably benign |
Het |
| Try4 |
A |
G |
6: 41,281,996 (GRCm39) |
D194G |
probably damaging |
Het |
| Tyrp1 |
C |
A |
4: 80,755,897 (GRCm39) |
T222K |
probably damaging |
Het |
| Zfp57 |
T |
A |
17: 37,320,785 (GRCm39) |
V213D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,117,380 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,823 (GRCm39) |
G454R |
not run |
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 |
|
R6949:Lmo2
|
UTSW |
2 |
103,801,018 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
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'- ATCCCAGTTACAGCTTCCGC -3'
Sequencing Primer
(F):5'- CGGTGACTGTCCTTGAGC -3'
(R):5'- TACAGCTTCCGCCGCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation