Incidental Mutation 'R8069:Llgl2'
| ID |
620189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| MMRRC Submission |
067504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.676)
|
| Stock # |
R8069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115744112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 773
(M773K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103032]
[ENSMUST00000177736]
|
| AlphaFold |
Q3TJ91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103032
AA Change: M773K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: M773K
| 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 |
probably benign
Transcript: ENSMUST00000177736
AA Change: M797K
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: M797K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
T |
A |
9: 4,296,823 (GRCm39) |
D261V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adad2 |
T |
C |
8: 120,342,746 (GRCm39) |
S431P |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,118,246 (GRCm39) |
Y557H |
possibly damaging |
Het |
| Adam5 |
C |
T |
8: 25,303,541 (GRCm39) |
E129K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,609,251 (GRCm39) |
V824A |
probably benign |
Het |
| Armc12 |
A |
T |
17: 28,751,410 (GRCm39) |
K135* |
probably null |
Het |
| Aup1 |
C |
T |
6: 83,032,910 (GRCm39) |
Q215* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,129,935 (GRCm39) |
R394C |
probably benign |
Het |
| Canx |
T |
G |
11: 50,202,531 (GRCm39) |
D25A |
possibly damaging |
Het |
| Ccnf |
A |
G |
17: 24,443,989 (GRCm39) |
L593P |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,898,695 (GRCm39) |
I41F |
unknown |
Het |
| Cdh1 |
C |
T |
8: 107,384,405 (GRCm39) |
A291V |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,878,883 (GRCm39) |
I963F |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,233,882 (GRCm39) |
T2305S |
possibly damaging |
Het |
| Cimap1a |
A |
T |
7: 140,430,215 (GRCm39) |
T201S |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,758 (GRCm39) |
R24G |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,960,514 (GRCm39) |
N98S |
possibly damaging |
Het |
| Defa3 |
T |
G |
8: 21,778,288 (GRCm39) |
C91G |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,072,446 (GRCm39) |
F844L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,302,705 (GRCm39) |
D1733G |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,263,866 (GRCm39) |
W2116* |
probably null |
Het |
| Dnaja3 |
T |
C |
16: 4,502,131 (GRCm39) |
V45A |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,717,615 (GRCm39) |
S11T |
unknown |
Het |
| Enpp2 |
T |
A |
15: 54,710,697 (GRCm39) |
K744N |
probably damaging |
Het |
| Fam171b |
CCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGC |
2: 83,643,218 (GRCm39) |
|
probably benign |
Het |
| Fdxacb1 |
T |
G |
9: 50,680,135 (GRCm39) |
F107C |
probably damaging |
Het |
| Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,306 (GRCm39) |
Y6* |
probably null |
Het |
| Gm45140 |
T |
C |
6: 87,796,551 (GRCm39) |
H66R |
|
Het |
| Grin3b |
G |
A |
10: 79,812,868 (GRCm39) |
R981Q |
unknown |
Het |
| Ipp |
T |
G |
4: 116,368,053 (GRCm39) |
I95M |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 89,973,466 (GRCm39) |
F769L |
probably damaging |
Het |
| Jkamp |
C |
T |
12: 72,136,832 (GRCm39) |
L67F |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,823,674 (GRCm39) |
T973A |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,869,039 (GRCm39) |
Y271C |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,159 (GRCm39) |
S178P |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,732,833 (GRCm39) |
S648* |
probably null |
Het |
| Neurl1b |
G |
T |
17: 26,651,201 (GRCm39) |
V158F |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,766,034 (GRCm39) |
V142A |
unknown |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oma1 |
A |
T |
4: 103,176,232 (GRCm39) |
|
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,364 (GRCm39) |
N178Y |
possibly damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,411 (GRCm39) |
Y107H |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,009 (GRCm39) |
T784A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,752,265 (GRCm39) |
I217T |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,341,753 (GRCm39) |
F76S |
probably damaging |
Het |
| Rap1b |
A |
C |
10: 117,657,514 (GRCm39) |
I55S |
probably damaging |
Het |
| Sftpd |
T |
C |
14: 40,894,538 (GRCm39) |
T294A |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Srms |
T |
A |
2: 180,848,751 (GRCm39) |
H363L |
probably damaging |
Het |
| Tbc1d13 |
A |
T |
2: 30,037,415 (GRCm39) |
M266L |
probably damaging |
Het |
| Tbc1d2 |
A |
C |
4: 46,649,737 (GRCm39) |
C100G |
possibly damaging |
Het |
| Tdg |
A |
T |
10: 82,474,627 (GRCm39) |
Q39L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,586,146 (GRCm39) |
A1547V |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,858,718 (GRCm39) |
E380G |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,177,597 (GRCm39) |
D2808E |
unknown |
Het |
| Usp25 |
A |
T |
16: 76,865,943 (GRCm39) |
D287V |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,079,862 (GRCm39) |
Q7L |
probably benign |
Het |
| Zfp931 |
T |
C |
2: 177,709,709 (GRCm39) |
R226G |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,542,215 (GRCm39) |
E201D |
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 |
|
|
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 |
|
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 |
|
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'- AACAGATGAACCTGTCCGG -3'
(R):5'- GGCCCTTACTCCAATGCAAC -3'
Sequencing Primer
(F):5'- ATGAACCTGTCCGGGCAGAG -3'
(R):5'- TGGTGCCTTAGGGACATCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation