Incidental Mutation 'R8746:Lmo2'
| ID |
663535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmo2
|
| Ensembl Gene |
ENSMUSG00000032698 |
| Gene Name |
LIM domain only 2 |
| Synonyms |
Rbtn2, Rhom-2, Rbtn-2 |
| MMRRC Submission |
068590-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8746 (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 C
at 103806384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 96
(S96P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111139]
[ENSMUST00000111140]
[ENSMUST00000111143]
[ENSMUST00000123437]
[ENSMUST00000138815]
[ENSMUST00000156813]
[ENSMUST00000170926]
|
| AlphaFold |
P25801 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111139
|
| SMART Domains |
Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
| 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: S96P
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: S96P
| 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 damaging
Transcript: ENSMUST00000111143
AA Change: S88P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: S88P
| 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: S26P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: S26P
| 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: S26P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698
AA Change: S26P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM
|
30 |
59 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156813
AA Change: S26P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698
AA Change: S26P
| 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: S26P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: S26P
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,451,529 (GRCm39) |
M871K |
probably benign |
Het |
| 5530400C23Rik |
A |
C |
6: 133,271,256 (GRCm39) |
E100A |
possibly damaging |
Het |
| Aatf |
A |
T |
11: 84,402,338 (GRCm39) |
I116N |
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,087,754 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
G |
T |
13: 8,802,680 (GRCm39) |
A652S |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,281,028 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
C |
T |
3: 96,504,791 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,840,513 (GRCm39) |
I395V |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,581,696 (GRCm39) |
R203L |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,448 (GRCm39) |
F243L |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,918 (GRCm39) |
V49A |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,803,465 (GRCm39) |
G833R |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,592,695 (GRCm39) |
D234G |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,477,433 (GRCm39) |
R142I |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,529,056 (GRCm39) |
D264G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,553,534 (GRCm39) |
K61R |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,269,370 (GRCm39) |
T981S |
probably benign |
Het |
| Gcg |
T |
A |
2: 62,305,325 (GRCm39) |
K180N |
probably damaging |
Het |
| Gm10840 |
G |
A |
11: 106,051,742 (GRCm39) |
E23K |
unknown |
Het |
| Gm2696 |
T |
G |
10: 77,651,037 (GRCm39) |
C174W |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,899,985 (GRCm39) |
I299V |
probably benign |
Het |
| Hepacam |
T |
A |
9: 37,293,030 (GRCm39) |
V207E |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,745 (GRCm39) |
M1181K |
probably damaging |
Het |
| Marf1 |
T |
A |
16: 13,935,168 (GRCm39) |
E1533D |
probably benign |
Het |
| Megf9 |
A |
G |
4: 70,353,511 (GRCm39) |
C432R |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,954,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,172,613 (GRCm39) |
I1565V |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,183,993 (GRCm39) |
|
probably benign |
Het |
| Or56b2j |
A |
T |
7: 104,353,067 (GRCm39) |
I98F |
probably damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,123,973 (GRCm39) |
F152L |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,092 (GRCm39) |
D53G |
probably benign |
Het |
| Or5g24-ps1 |
T |
A |
2: 85,464,221 (GRCm39) |
Y149* |
probably null |
Het |
| Or6f1 |
C |
T |
7: 85,970,437 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or9k2b |
T |
C |
10: 130,016,086 (GRCm39) |
Y221C |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,394,067 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,809,624 (GRCm39) |
Q76L |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,907,777 (GRCm39) |
T953K |
|
Het |
| Plekhn1 |
C |
A |
4: 156,316,682 (GRCm39) |
R333L |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,194,610 (GRCm39) |
V111D |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,954,597 (GRCm39) |
I398M |
possibly damaging |
Het |
| Ranbp3 |
T |
C |
17: 57,009,826 (GRCm39) |
V137A |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,757,744 (GRCm39) |
F21I |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,547,537 (GRCm39) |
S56P |
probably damaging |
Het |
| Rhpn1 |
G |
A |
15: 75,585,425 (GRCm39) |
V593M |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,437,784 (GRCm39) |
S589P |
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,136,843 (GRCm39) |
K163R |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,962,063 (GRCm39) |
Y1080C |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,654,572 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,655 (GRCm39) |
V208M |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,902,884 (GRCm39) |
L142Q |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,176,120 (GRCm39) |
V2316D |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,052,543 (GRCm39) |
S66T |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,243,885 (GRCm39) |
S739P |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,224,157 (GRCm39) |
V209E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGGTCTCTCTAGCCCACTC -3'
(R):5'- CTGCACAATTTCCGTCCCAG -3'
Sequencing Primer
(F):5'- CAGTCTGAATTTGGGCGTCC -3'
(R):5'- AATTTCCGTCCCAGCTTGTAGTAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation