Incidental Mutation 'R7332:Llgl2'
ID |
569311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Llgl2
|
Ensembl Gene |
ENSMUSG00000020782 |
Gene Name |
LLGL2 scribble cell polarity complex component |
Synonyms |
9130006H11Rik |
MMRRC Submission |
045425-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.676)
|
Stock # |
R7332 (G1)
|
Quality Score |
225.009 |
Status
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
A |
G |
19: 56,906,553 (GRCm39) |
S449P |
probably damaging |
Het |
Atp6v0c |
A |
C |
17: 24,388,198 (GRCm39) |
S21A |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,601,547 (GRCm39) |
Y40C |
possibly damaging |
Het |
Cdadc1 |
A |
G |
14: 59,813,213 (GRCm39) |
I398T |
possibly damaging |
Het |
Cfap44 |
T |
A |
16: 44,250,191 (GRCm39) |
D756E |
probably damaging |
Het |
Clcnkb |
A |
T |
4: 141,141,243 (GRCm39) |
L104Q |
probably null |
Het |
Clk1 |
G |
A |
1: 58,451,853 (GRCm39) |
H421Y |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,528,061 (GRCm39) |
D426V |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,229,061 (GRCm39) |
L2009S |
possibly damaging |
Het |
Col5a2 |
C |
G |
1: 45,419,325 (GRCm39) |
D1252H |
probably damaging |
Het |
Coro1b |
A |
G |
19: 4,199,356 (GRCm39) |
K5R |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,313,360 (GRCm39) |
T1346A |
|
Het |
Csrp1 |
G |
T |
1: 135,667,149 (GRCm39) |
W4L |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,929,817 (GRCm39) |
I184T |
probably damaging |
Het |
Egfl7 |
C |
A |
2: 26,480,725 (GRCm39) |
R128S |
probably benign |
Het |
Fggy |
A |
T |
4: 95,511,719 (GRCm39) |
N157I |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,093,926 (GRCm39) |
L697Q |
probably damaging |
Het |
Gm4952 |
T |
A |
19: 12,604,373 (GRCm39) |
Y262N |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,495,119 (GRCm39) |
M821K |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,766,351 (GRCm39) |
|
probably null |
Het |
Hsbp1l1 |
T |
C |
18: 80,280,038 (GRCm39) |
|
probably benign |
Het |
Igfbp7 |
G |
A |
5: 77,499,803 (GRCm39) |
T220I |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,322,819 (GRCm39) |
Q137R |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,292 (GRCm39) |
F199S |
possibly damaging |
Het |
Kirrel1 |
T |
C |
3: 86,995,705 (GRCm39) |
I410V |
probably benign |
Het |
Lrrc27 |
A |
G |
7: 138,822,661 (GRCm39) |
I517M |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,106 (GRCm39) |
T106A |
probably benign |
Het |
Mast4 |
T |
A |
13: 102,887,932 (GRCm39) |
Y1159F |
possibly damaging |
Het |
Mmp2 |
A |
G |
8: 93,576,780 (GRCm39) |
D601G |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,434,793 (GRCm39) |
I2217F |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,393,889 (GRCm39) |
S2891P |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,437,209 (GRCm39) |
V438A |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,738 (GRCm39) |
H131R |
not run |
Het |
Pdf |
T |
C |
8: 107,775,173 (GRCm39) |
R20G |
probably benign |
Het |
Pfdn2 |
T |
C |
1: 171,184,162 (GRCm39) |
L47P |
probably damaging |
Het |
Pik3c2g |
C |
A |
6: 139,841,981 (GRCm39) |
N795K |
|
Het |
Ppip5k1 |
A |
T |
2: 121,142,450 (GRCm39) |
V1333D |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,143,187 (GRCm39) |
T339A |
possibly damaging |
Het |
Prss44 |
A |
T |
9: 110,644,530 (GRCm39) |
I213F |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,183,557 (GRCm39) |
Y349H |
probably damaging |
Het |
Rcl1 |
A |
T |
19: 29,108,096 (GRCm39) |
T253S |
probably benign |
Het |
Rdh1 |
A |
G |
10: 127,595,754 (GRCm39) |
|
probably benign |
Het |
Scn7a |
C |
T |
2: 66,522,898 (GRCm39) |
W935* |
probably null |
Het |
Sec24b |
T |
C |
3: 129,835,042 (GRCm39) |
N52S |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,800,091 (GRCm39) |
I94L |
probably benign |
Het |
Setx |
T |
C |
2: 29,036,638 (GRCm39) |
V1041A |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 73,968,232 (GRCm39) |
A496V |
possibly damaging |
Het |
Spag5 |
T |
A |
11: 78,204,205 (GRCm39) |
L486* |
probably null |
Het |
Spink5 |
T |
C |
18: 44,115,317 (GRCm39) |
I183T |
probably damaging |
Het |
Srd5a1 |
T |
C |
13: 69,759,173 (GRCm39) |
Y65C |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,344,349 (GRCm39) |
I778N |
possibly damaging |
Het |
Sstr1 |
C |
T |
12: 58,260,172 (GRCm39) |
S265L |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,014,529 (GRCm39) |
|
probably null |
Het |
Tctn1 |
A |
T |
5: 122,399,547 (GRCm39) |
D92E |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,503,644 (GRCm39) |
I940M |
probably damaging |
Het |
Tmeff2 |
T |
C |
1: 51,018,599 (GRCm39) |
W194R |
unknown |
Het |
Tomm20 |
T |
C |
8: 127,663,903 (GRCm39) |
T94A |
probably benign |
Het |
Ucn2 |
A |
G |
9: 108,815,532 (GRCm39) |
N98S |
probably benign |
Het |
V1rd19 |
A |
T |
7: 23,702,743 (GRCm39) |
I70L |
probably benign |
Het |
Vmn1r18 |
A |
G |
6: 57,367,503 (GRCm39) |
L17P |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,909,534 (GRCm39) |
T20A |
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,220,986 (GRCm39) |
T182I |
|
Het |
Zfp40 |
A |
T |
17: 23,395,155 (GRCm39) |
C477* |
probably null |
Het |
Zfp68 |
A |
G |
5: 138,604,830 (GRCm39) |
S498P |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,757,755 (GRCm39) |
|
probably null |
Het |
Zfp846 |
T |
G |
9: 20,505,521 (GRCm39) |
N460K |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,680,352 (GRCm39) |
Y437C |
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 |
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 |
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'- CCGCTTGTGACTATCAGGAG -3'
(R):5'- GTTGGGCCAAATCCCTTAAAGAG -3'
Sequencing Primer
(F):5'- CTATCAGGAGTTGTACAGGAGCCC -3'
(R):5'- GCCTGGAAAGATGGCCTTC -3'
|
Posted On |
2019-09-13 |