Incidental Mutation 'R0980:Llgl2'
| ID |
97037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| MMRRC Submission |
039106-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R0980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115740827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 443
(E443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103032]
[ENSMUST00000133250]
[ENSMUST00000137900]
[ENSMUST00000177736]
[ENSMUST00000155878]
[ENSMUST00000173289]
|
| AlphaFold |
Q3TJ91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103032
AA Change: E443G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: E443G
| 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 benign
Transcript: ENSMUST00000128826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133250
|
| SMART Domains |
Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
| 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 benign
Transcript: ENSMUST00000137900
|
| SMART Domains |
Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
| 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 |
noncoding transcript
Transcript: ENSMUST00000137951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147878
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177736
AA Change: E443G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: E443G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155878
|
| SMART Domains |
Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
| 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 benign
Transcript: ENSMUST00000173289
|
| SMART Domains |
Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
| Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
| Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
| Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
| Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
| Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
| Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
| Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
| Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
| Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
| Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
| Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
| Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
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 |
|
|
R0166:Llgl2
|
UTSW |
11 |
115,735,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGCTATGGGAACGCATCATCGC -3'
(R):5'- GGATCATCGCTGTAGGGATCAAAGG -3'
Sequencing Primer
(F):5'- TCTAGGAGTGGCCCATAGATG -3'
(R):5'- GGATCAAAGGAGCCCACCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation