Incidental Mutation 'R0166:Llgl2'
| ID |
24188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| MMRRC Submission |
038442-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R0166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115735680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 92
(L92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103032]
[ENSMUST00000133250]
[ENSMUST00000137900]
[ENSMUST00000155878]
[ENSMUST00000172552]
[ENSMUST00000173289]
[ENSMUST00000177736]
|
| AlphaFold |
Q3TJ91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103032
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
24 |
60 |
9.17e1 |
SMART |
|
WD40
|
62 |
101 |
7.96e0 |
SMART |
|
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
|
WD40
|
181 |
217 |
3.96e1 |
SMART |
|
WD40
|
221 |
258 |
5.7e1 |
SMART |
|
Pfam:LLGL
|
268 |
372 |
3.2e-47 |
PFAM |
|
WD40
|
411 |
451 |
1.38e0 |
SMART |
|
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
|
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
|
Blast:WD40
|
830 |
879 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133250
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
60 |
2e-20 |
BLAST |
|
SCOP:d1gxra_
|
19 |
118 |
5e-8 |
SMART |
|
Blast:WD40
|
62 |
101 |
4e-22 |
BLAST |
|
Blast:WD40
|
112 |
146 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137900
AA Change: L92P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
60 |
3e-20 |
BLAST |
|
SCOP:d1gxra_
|
19 |
158 |
7e-9 |
SMART |
|
Blast:WD40
|
62 |
101 |
6e-22 |
BLAST |
|
Blast:WD40
|
112 |
157 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155878
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
60 |
1e-20 |
BLAST |
|
SCOP:d1gxra_
|
19 |
118 |
3e-8 |
SMART |
|
Blast:WD40
|
62 |
101 |
3e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172552
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133803
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
60 |
4e-21 |
BLAST |
|
SCOP:d1gxra_
|
19 |
101 |
1e-7 |
SMART |
|
Blast:WD40
|
62 |
101 |
2e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173289
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
60 |
2e-20 |
BLAST |
|
SCOP:d1gxra_
|
19 |
118 |
5e-8 |
SMART |
|
Blast:WD40
|
62 |
101 |
4e-22 |
BLAST |
|
Blast:WD40
|
112 |
148 |
4e-17 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177736
AA Change: L92P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
24 |
60 |
5.9e-1 |
SMART |
|
WD40
|
62 |
101 |
5.2e-2 |
SMART |
|
Blast:WD40
|
112 |
157 |
6e-20 |
BLAST |
|
WD40
|
181 |
217 |
2.5e-1 |
SMART |
|
WD40
|
221 |
258 |
3.6e-1 |
SMART |
|
Pfam:LLGL
|
271 |
372 |
6.2e-41 |
PFAM |
|
WD40
|
411 |
451 |
8.8e-3 |
SMART |
|
Blast:WD40
|
489 |
532 |
3e-12 |
BLAST |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
Blast:WD40
|
576 |
615 |
2e-10 |
BLAST |
|
low complexity region
|
649 |
668 |
N/A |
INTRINSIC |
|
Blast:WD40
|
854 |
903 |
2e-10 |
BLAST |
|
| Meta Mutation Damage Score |
0.9071 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
91% (49/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of the placental labyrinth layer and are born as runts but catch up in size by adulthood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,903,468 (GRCm39) |
F1040L |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,075,745 (GRCm39) |
N1201S |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,983,089 (GRCm39) |
P1458S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,707 (GRCm39) |
V1707A |
probably benign |
Het |
| Akr1c21 |
T |
A |
13: 4,631,263 (GRCm39) |
V266E |
probably damaging |
Het |
| Arap2 |
A |
C |
5: 62,833,361 (GRCm39) |
C894G |
probably damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,604,901 (GRCm39) |
D426G |
possibly damaging |
Het |
| Azi2 |
A |
T |
9: 117,884,909 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,283,032 (GRCm39) |
D91N |
probably damaging |
Het |
| Cnot7 |
A |
T |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,086 (GRCm39) |
E311G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,283,036 (GRCm39) |
V640A |
probably benign |
Het |
| Cst7 |
T |
C |
2: 150,417,647 (GRCm39) |
S31P |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,530 (GRCm39) |
I228L |
probably benign |
Het |
| Ddx28 |
G |
A |
8: 106,736,921 (GRCm39) |
T379I |
probably benign |
Het |
| Drd1 |
T |
A |
13: 54,207,600 (GRCm39) |
I205F |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,896,115 (GRCm38) |
V837D |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,664 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,925,841 (GRCm39) |
Y264* |
probably null |
Het |
| Gbp5 |
T |
A |
3: 142,212,680 (GRCm39) |
|
probably null |
Het |
| Gm7094 |
A |
G |
1: 21,342,958 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr55 |
A |
G |
1: 85,868,858 (GRCm39) |
V241A |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,394,020 (GRCm39) |
A16T |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,833,132 (GRCm39) |
Q1472L |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,820,943 (GRCm39) |
M168K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,815 (GRCm39) |
R528* |
probably null |
Het |
| Mdm1 |
T |
A |
10: 118,002,585 (GRCm39) |
D635E |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,088,851 (GRCm39) |
R69W |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
A |
G |
4: 133,281,049 (GRCm39) |
Q105R |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,484 (GRCm39) |
S167T |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,542 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,310,001 (GRCm39) |
W1055R |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,381,081 (GRCm39) |
H314L |
probably benign |
Het |
| Prdm1 |
C |
T |
10: 44,316,087 (GRCm39) |
R716Q |
probably damaging |
Het |
| Proser1 |
C |
A |
3: 53,388,038 (GRCm39) |
Q909K |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,617,358 (GRCm39) |
C24S |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,146 (GRCm39) |
F69I |
possibly damaging |
Het |
| Sctr |
A |
T |
1: 119,983,124 (GRCm39) |
I325F |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,539,684 (GRCm39) |
T379I |
possibly damaging |
Het |
| Slc5a3 |
G |
A |
16: 91,874,581 (GRCm39) |
V213I |
possibly damaging |
Het |
| Spib |
G |
T |
7: 44,179,324 (GRCm39) |
D28E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,579 (GRCm39) |
S226G |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,676,058 (GRCm39) |
T673S |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,297,020 (GRCm39) |
F392L |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,373,500 (GRCm39) |
S979P |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,122,812 (GRCm39) |
L2110P |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,415,615 (GRCm39) |
T346A |
probably benign |
Het |
|
| Other mutations in Llgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Llgl2
|
APN |
11 |
115,725,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01145:Llgl2
|
APN |
11 |
115,744,631 (GRCm39) |
missense |
probably benign |
|
|
IGL01344:Llgl2
|
APN |
11 |
115,742,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01980:Llgl2
|
APN |
11 |
115,740,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Llgl2
|
APN |
11 |
115,736,205 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02341:Llgl2
|
APN |
11 |
115,741,946 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02399:Llgl2
|
APN |
11 |
115,735,661 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02415:Llgl2
|
APN |
11 |
115,744,111 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02632:Llgl2
|
APN |
11 |
115,735,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Llgl2
|
APN |
11 |
115,745,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03405:Llgl2
|
APN |
11 |
115,741,668 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0097:Llgl2
|
UTSW |
11 |
115,735,323 (GRCm39) |
nonsense |
probably null |
|
|
R0277:Llgl2
|
UTSW |
11 |
115,741,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Llgl2
|
UTSW |
11 |
115,741,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Llgl2
|
UTSW |
11 |
115,740,818 (GRCm39) |
splice site |
probably benign |
|
|
R0614:Llgl2
|
UTSW |
11 |
115,741,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Llgl2
|
UTSW |
11 |
115,740,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Llgl2
|
UTSW |
11 |
115,743,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1456:Llgl2
|
UTSW |
11 |
115,736,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1541:Llgl2
|
UTSW |
11 |
115,743,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1832:Llgl2
|
UTSW |
11 |
115,741,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Llgl2
|
UTSW |
11 |
115,741,892 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2991:Llgl2
|
UTSW |
11 |
115,741,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4018:Llgl2
|
UTSW |
11 |
115,738,438 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4582:Llgl2
|
UTSW |
11 |
115,741,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4729:Llgl2
|
UTSW |
11 |
115,739,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4907:Llgl2
|
UTSW |
11 |
115,744,800 (GRCm39) |
nonsense |
probably null |
|
|
R5000:Llgl2
|
UTSW |
11 |
115,735,728 (GRCm39) |
missense |
probably benign |
|
|
R5016:Llgl2
|
UTSW |
11 |
115,744,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Llgl2
|
UTSW |
11 |
115,741,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Llgl2
|
UTSW |
11 |
115,741,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Llgl2
|
UTSW |
11 |
115,737,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6451:Llgl2
|
UTSW |
11 |
115,735,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6804:Llgl2
|
UTSW |
11 |
115,734,141 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6909:Llgl2
|
UTSW |
11 |
115,741,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Llgl2
|
UTSW |
11 |
115,741,556 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7332:Llgl2
|
UTSW |
11 |
115,739,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7715:Llgl2
|
UTSW |
11 |
115,740,554 (GRCm39) |
missense |
probably benign |
|
|
R8038:Llgl2
|
UTSW |
11 |
115,741,929 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8069:Llgl2
|
UTSW |
11 |
115,744,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8076:Llgl2
|
UTSW |
11 |
115,737,755 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8109:Llgl2
|
UTSW |
11 |
115,741,619 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8129:Llgl2
|
UTSW |
11 |
115,741,737 (GRCm39) |
splice site |
probably null |
|
|
R8731:Llgl2
|
UTSW |
11 |
115,742,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8881:Llgl2
|
UTSW |
11 |
115,743,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9286:Llgl2
|
UTSW |
11 |
115,740,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9365:Llgl2
|
UTSW |
11 |
115,740,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9560:Llgl2
|
UTSW |
11 |
115,725,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9651:Llgl2
|
UTSW |
11 |
115,742,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9729:Llgl2
|
UTSW |
11 |
115,740,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Llgl2
|
UTSW |
11 |
115,741,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Llgl2
|
UTSW |
11 |
115,740,380 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAACCACAGAGAGCCTTTTGTCC -3'
(R):5'- TTCCAGAGCACGAGATGGTGGTAG -3'
Sequencing Primer
(F):5'- TCTGTAGCTAGCAAGCTCCT -3'
(R):5'- ACACTGAGTTAGGCACTGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation