Incidental Mutation 'R6909:Llgl2'
| ID |
538940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Llgl2
|
| Ensembl Gene |
ENSMUSG00000020782 |
| Gene Name |
LLGL2 scribble cell polarity complex component |
| Synonyms |
9130006H11Rik |
| MMRRC Submission |
045001-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.676)
|
| Stock # |
R6909 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115714875-115746606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115741625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 585
(C585Y)
|
| 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: C585Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: C585Y
| 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 damaging
Transcript: ENSMUST00000177736
AA Change: C585Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: C585Y
| 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: 99.1%
- 20x: 97.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
| Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
| Ano1 |
G |
A |
7: 144,209,468 (GRCm39) |
T211M |
probably damaging |
Het |
| Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
| Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,472,899 (GRCm39) |
L107* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
| Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
| Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
| Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,024,947 (GRCm39) |
F18S |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
| Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
| Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
| Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
| Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,948,252 (GRCm39) |
H658R |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
| Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
| Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
| Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
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 |
|
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 |
|
|
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'- TCTGCTGAGCTATCTGCCAC -3'
(R):5'- TGTGCACCTTGAGGAAGTGG -3'
Sequencing Primer
(F):5'- GAGCTATCTGCCACCCCCAC -3'
(R):5'- GAATGTCGTGTCAGGCCATCAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation