Incidental Mutation 'R4729:Llgl2'
| ID |
358705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| MMRRC Submission |
041603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R4729 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115739125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 332
(V332A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103032]
[ENSMUST00000133250]
[ENSMUST00000137900]
[ENSMUST00000155878]
[ENSMUST00000172552]
[ENSMUST00000173289]
[ENSMUST00000177736]
|
| AlphaFold |
Q3TJ91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103032
AA Change: V332A
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: V332A
| 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: 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 |
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: ENSMUST00000172552
|
| SMART Domains |
Protein: ENSMUSP00000133803
Gene: ENSMUSG00000020782
| 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 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177736
AA Change: V332A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: V332A
| 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 |
0.3646 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,667,187 (GRCm39) |
L220H |
unknown |
Het |
| Amt |
T |
A |
9: 108,177,851 (GRCm39) |
L272Q |
probably damaging |
Het |
| Ank2 |
G |
C |
3: 126,770,545 (GRCm39) |
Y894* |
probably null |
Het |
| Ankzf1 |
T |
A |
1: 75,170,908 (GRCm39) |
F105I |
probably damaging |
Het |
| Aox4 |
C |
A |
1: 58,298,236 (GRCm39) |
Y1067* |
probably null |
Het |
| BC034090 |
T |
A |
1: 155,100,836 (GRCm39) |
Q476L |
probably damaging |
Het |
| Bhmt |
G |
T |
13: 93,763,871 (GRCm39) |
R57S |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,633,136 (GRCm39) |
F964L |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,724,851 (GRCm39) |
S396R |
probably benign |
Het |
| Cpne4 |
C |
A |
9: 104,799,755 (GRCm39) |
Q191K |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,475,038 (GRCm39) |
Y352H |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,058,623 (GRCm39) |
S426P |
probably damaging |
Het |
| Dennd10 |
T |
A |
19: 60,823,309 (GRCm39) |
F315I |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,329,443 (GRCm39) |
N326K |
probably benign |
Het |
| E2f2 |
T |
A |
4: 135,911,760 (GRCm39) |
I257N |
probably damaging |
Het |
| Elfn1 |
T |
G |
5: 139,959,413 (GRCm39) |
F806V |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,783,204 (GRCm39) |
Y559F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,543,480 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,617 (GRCm39) |
N101S |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,874,185 (GRCm39) |
S1051P |
probably benign |
Het |
| Galns |
C |
T |
8: 123,330,195 (GRCm39) |
G112D |
probably damaging |
Het |
| Gm9923 |
A |
G |
10: 72,145,524 (GRCm39) |
K125R |
probably damaging |
Het |
| Hectd3 |
G |
A |
4: 116,854,415 (GRCm39) |
V326M |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,048,248 (GRCm39) |
S495P |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,503 (GRCm39) |
R528G |
probably damaging |
Het |
| Igkv12-38 |
T |
A |
6: 69,920,368 (GRCm39) |
Y50F |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,445,025 (GRCm39) |
S883G |
probably damaging |
Het |
| Irf8 |
T |
C |
8: 121,480,178 (GRCm39) |
S139P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kcnq4 |
G |
T |
4: 120,570,271 (GRCm39) |
D357E |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,584 (GRCm39) |
L364P |
probably damaging |
Het |
| Krt7 |
A |
G |
15: 101,318,439 (GRCm39) |
I309V |
probably benign |
Het |
| Krt76 |
G |
T |
15: 101,797,516 (GRCm39) |
A281D |
probably damaging |
Het |
| Lancl2 |
T |
C |
6: 57,714,697 (GRCm39) |
F430L |
probably damaging |
Het |
| Lrrc26 |
A |
T |
2: 25,180,076 (GRCm39) |
T26S |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,912,041 (GRCm39) |
M1840L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,486 (GRCm39) |
C966Y |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,247,266 (GRCm39) |
S354C |
possibly damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,252,159 (GRCm39) |
G577D |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,426,027 (GRCm39) |
R2366H |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,668,511 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,639 (GRCm39) |
R866C |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,102,567 (GRCm39) |
V455E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,153,674 (GRCm39) |
I2417T |
possibly damaging |
Het |
| Nme5 |
C |
T |
18: 34,702,890 (GRCm39) |
A133T |
probably benign |
Het |
| Nradd |
T |
C |
9: 110,450,979 (GRCm39) |
D51G |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,250,843 (GRCm39) |
R591G |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,337,929 (GRCm39) |
F73S |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,419 (GRCm39) |
Q250* |
probably null |
Het |
| Pde1c |
T |
A |
6: 56,049,194 (GRCm39) |
K766N |
probably damaging |
Het |
| Phf21b |
G |
A |
15: 84,738,942 (GRCm39) |
Q40* |
probably null |
Het |
| Prr14 |
A |
G |
7: 127,073,868 (GRCm39) |
D244G |
probably benign |
Het |
| Rab11fip5 |
C |
T |
6: 85,351,249 (GRCm39) |
A88T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,593,317 (GRCm39) |
S428T |
probably benign |
Het |
| Rdh9 |
A |
G |
10: 127,612,621 (GRCm39) |
I90V |
probably benign |
Het |
| Rhag |
G |
T |
17: 41,139,292 (GRCm39) |
G76C |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,261,984 (GRCm39) |
V6E |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,244 (GRCm39) |
V92E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,500,592 (GRCm39) |
I229T |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,854,695 (GRCm39) |
T652K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,635,459 (GRCm39) |
I345F |
probably damaging |
Het |
| Snrnp200 |
A |
T |
2: 127,074,857 (GRCm39) |
I1477F |
probably damaging |
Het |
| Snx31 |
G |
A |
15: 36,523,698 (GRCm39) |
T328I |
possibly damaging |
Het |
| Strn |
A |
G |
17: 78,965,390 (GRCm39) |
F634S |
probably damaging |
Het |
| Tmem101 |
C |
T |
11: 102,047,155 (GRCm39) |
G6R |
probably benign |
Het |
| Tmem199 |
C |
G |
11: 78,399,506 (GRCm39) |
G131R |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,055,267 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,681,929 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,247 (GRCm39) |
L61P |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,632 (GRCm39) |
Y75H |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,906 (GRCm39) |
I500K |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,124,272 (GRCm39) |
R400C |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,767,286 (GRCm39) |
P599L |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,464,557 (GRCm39) |
A1572S |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Zfp719 |
T |
A |
7: 43,239,834 (GRCm39) |
I474N |
probably 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 |
|
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 |
|
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'- ACCCCGCTTGTGACTATCAG -3'
(R):5'- TTGGGCCAAATCCCTTAAAGAGG -3'
Sequencing Primer
(F):5'- CTATCAGGAGTTGTACAGGAGCCC -3'
(R):5'- GCCTGGAAAGATGGCCTTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation