Incidental Mutation 'IGL02185:Ulk2'
ID |
283596 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ulk2
|
Ensembl Gene |
ENSMUSG00000004798 |
Gene Name |
unc-51 like kinase 2 |
Synonyms |
A830085I22Rik, Unc51.2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
IGL02185
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61672886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 903
(A903T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
AlphaFold |
Q9QY01 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004920
AA Change: A903T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004920 Gene: ENSMUSG00000004798 AA Change: A903T
Domain | Start | End | E-Value | Type |
S_TKc
|
9 |
271 |
1.1e-93 |
SMART |
low complexity region
|
274 |
309 |
N/A |
INTRINSIC |
Blast:S_TKc
|
310 |
413 |
9e-28 |
BLAST |
Blast:S_TKc
|
433 |
738 |
1e-29 |
BLAST |
low complexity region
|
751 |
766 |
N/A |
INTRINSIC |
low complexity region
|
771 |
791 |
N/A |
INTRINSIC |
Pfam:DUF3543
|
821 |
1032 |
1.8e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129025
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008] PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
Other mutations in Ulk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01599:Ulk2
|
APN |
11 |
61,682,262 (GRCm39) |
nonsense |
probably null |
|
IGL02044:Ulk2
|
APN |
11 |
61,672,465 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:Ulk2
|
APN |
11 |
61,725,660 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
BB009:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
BB017:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
BB019:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
R0207:Ulk2
|
UTSW |
11 |
61,668,611 (GRCm39) |
missense |
probably benign |
0.42 |
R0362:Ulk2
|
UTSW |
11 |
61,678,412 (GRCm39) |
missense |
probably benign |
|
R0657:Ulk2
|
UTSW |
11 |
61,698,880 (GRCm39) |
splice site |
probably benign |
|
R1076:Ulk2
|
UTSW |
11 |
61,710,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1144:Ulk2
|
UTSW |
11 |
61,690,886 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1573:Ulk2
|
UTSW |
11 |
61,670,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Ulk2
|
UTSW |
11 |
61,674,371 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1619:Ulk2
|
UTSW |
11 |
61,672,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Ulk2
|
UTSW |
11 |
61,732,165 (GRCm39) |
splice site |
probably benign |
|
R1845:Ulk2
|
UTSW |
11 |
61,703,564 (GRCm39) |
missense |
probably benign |
0.04 |
R1883:Ulk2
|
UTSW |
11 |
61,721,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Ulk2
|
UTSW |
11 |
61,710,297 (GRCm39) |
splice site |
probably null |
|
R2177:Ulk2
|
UTSW |
11 |
61,682,335 (GRCm39) |
missense |
probably benign |
0.01 |
R2416:Ulk2
|
UTSW |
11 |
61,672,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Ulk2
|
UTSW |
11 |
61,678,340 (GRCm39) |
missense |
probably benign |
0.00 |
R2847:Ulk2
|
UTSW |
11 |
61,715,555 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4736:Ulk2
|
UTSW |
11 |
61,724,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Ulk2
|
UTSW |
11 |
61,689,982 (GRCm39) |
missense |
probably benign |
0.00 |
R5081:Ulk2
|
UTSW |
11 |
61,694,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5190:Ulk2
|
UTSW |
11 |
61,672,537 (GRCm39) |
missense |
probably benign |
|
R5346:Ulk2
|
UTSW |
11 |
61,725,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R5348:Ulk2
|
UTSW |
11 |
61,674,439 (GRCm39) |
missense |
probably benign |
|
R5520:Ulk2
|
UTSW |
11 |
61,698,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Ulk2
|
UTSW |
11 |
61,694,622 (GRCm39) |
splice site |
probably benign |
|
R6153:Ulk2
|
UTSW |
11 |
61,672,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R6223:Ulk2
|
UTSW |
11 |
61,678,330 (GRCm39) |
nonsense |
probably null |
|
R7204:Ulk2
|
UTSW |
11 |
61,674,457 (GRCm39) |
missense |
probably benign |
0.11 |
R7205:Ulk2
|
UTSW |
11 |
61,725,657 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7259:Ulk2
|
UTSW |
11 |
61,672,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7353:Ulk2
|
UTSW |
11 |
61,710,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R7734:Ulk2
|
UTSW |
11 |
61,744,127 (GRCm39) |
nonsense |
probably null |
|
R7797:Ulk2
|
UTSW |
11 |
61,672,928 (GRCm39) |
missense |
probably benign |
0.06 |
R7808:Ulk2
|
UTSW |
11 |
61,745,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Ulk2
|
UTSW |
11 |
61,682,258 (GRCm39) |
critical splice donor site |
probably null |
|
R7932:Ulk2
|
UTSW |
11 |
61,698,916 (GRCm39) |
missense |
probably benign |
|
R8882:Ulk2
|
UTSW |
11 |
61,698,887 (GRCm39) |
critical splice donor site |
probably null |
|
R8909:Ulk2
|
UTSW |
11 |
61,690,380 (GRCm39) |
missense |
probably benign |
|
R9704:Ulk2
|
UTSW |
11 |
61,716,694 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Ulk2
|
UTSW |
11 |
61,690,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |