Incidental Mutation 'R4805:Lmo2'
| ID |
370604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmo2
|
| Ensembl Gene |
ENSMUSG00000032698 |
| Gene Name |
LIM domain only 2 |
| Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
| MMRRC Submission |
041999-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4805 (G1)
|
| Quality Score |
201 |
|
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]
[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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
99% (69/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,950,628 (GRCm39) |
Y1508* |
probably null |
Het |
| 4931414P19Rik |
T |
C |
14: 54,832,911 (GRCm39) |
E88G |
probably benign |
Het |
| Acaa1b |
A |
G |
9: 118,986,014 (GRCm39) |
S17P |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,881,552 (GRCm39) |
E565K |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,504 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
C |
T |
15: 98,442,189 (GRCm39) |
V360I |
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,105,908 (GRCm39) |
S1829P |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 138,981,122 (GRCm39) |
N112I |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,805 (GRCm39) |
D1969E |
probably benign |
Het |
| Flywch1 |
A |
C |
17: 23,979,591 (GRCm39) |
D394E |
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,263,733 (GRCm39) |
|
probably null |
Het |
| Gm14403 |
T |
C |
2: 177,200,492 (GRCm39) |
L146P |
probably damaging |
Het |
| Gm5283 |
G |
T |
3: 17,285,123 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
A |
1: 165,134,029 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,411 (GRCm39) |
M105K |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,880,018 (GRCm39) |
Y1264H |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,952 (GRCm39) |
Q348L |
possibly damaging |
Het |
| Ighv1-83 |
A |
T |
12: 115,927,489 (GRCm39) |
M87K |
possibly damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,154 (GRCm39) |
S44T |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,650,691 (GRCm39) |
N884K |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,358,692 (GRCm39) |
N75S |
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,319,811 (GRCm39) |
V431A |
unknown |
Het |
| Krt24 |
A |
T |
11: 99,174,452 (GRCm39) |
I205N |
possibly damaging |
Het |
| Lrrc31 |
A |
T |
3: 30,745,446 (GRCm39) |
L67* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,395,135 (GRCm39) |
F97L |
probably benign |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mgat4d |
T |
G |
8: 84,084,787 (GRCm39) |
|
probably null |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,054 (GRCm39) |
V166I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,052,329 (GRCm39) |
Q379L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,222,590 (GRCm39) |
S782G |
probably benign |
Het |
| Nobox |
T |
C |
6: 43,282,053 (GRCm39) |
D340G |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Or2t29 |
G |
A |
11: 58,433,396 (GRCm39) |
T315I |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,661 (GRCm39) |
I11F |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,307,959 (GRCm39) |
I1845N |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,103,590 (GRCm39) |
Y179H |
probably benign |
Het |
| Rad21l |
T |
G |
2: 151,509,927 (GRCm39) |
H58P |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,345,825 (GRCm39) |
L316S |
probably damaging |
Het |
| Serpina5 |
G |
A |
12: 104,068,460 (GRCm39) |
V174I |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,993,135 (GRCm39) |
S788P |
unknown |
Het |
| Shisal1 |
T |
A |
15: 84,301,397 (GRCm39) |
H82L |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,343 (GRCm39) |
V265A |
possibly damaging |
Het |
| Steap3 |
T |
A |
1: 120,171,616 (GRCm39) |
H163L |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,173,076 (GRCm39) |
F1729L |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 130,116,276 (GRCm39) |
V1343A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,130 (GRCm39) |
T486I |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,565,662 (GRCm39) |
M405I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,577,873 (GRCm39) |
D24340G |
probably damaging |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,602 (GRCm39) |
F65V |
possibly damaging |
Het |
| Vmn2r118 |
G |
T |
17: 55,899,581 (GRCm39) |
D774E |
probably damaging |
Het |
| Vmn2r13 |
C |
T |
5: 109,304,331 (GRCm39) |
C700Y |
probably damaging |
Het |
| Wsb1 |
A |
C |
11: 79,131,217 (GRCm39) |
M393R |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,397,504 (GRCm39) |
Y214H |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,099 (GRCm39) |
T193I |
possibly damaging |
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 |
|
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'- CTCTGTGCATCCTGTGACAAG -3'
(R):5'- TTCTCTCTAAGGGCTGGTCC -3'
Sequencing Primer
(F):5'- ATCCTGTGACAAGCGGATC -3'
(R):5'- GAAGTCTCAGCCTTTGCATTATG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation