Incidental Mutation 'R5081:Ulk2'
ID |
387138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ulk2
|
Ensembl Gene |
ENSMUSG00000004798 |
Gene Name |
unc-51 like kinase 2 |
Synonyms |
A830085I22Rik, Unc51.2 |
MMRRC Submission |
042670-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R5081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61694488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 474
(P474L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
AlphaFold |
Q9QY01 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004920
AA Change: P474L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004920 Gene: ENSMUSG00000004798 AA Change: P474L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157049
|
Meta Mutation Damage Score |
0.2765 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
93% (65/70) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
Aig1 |
A |
G |
10: 13,677,644 (GRCm39) |
I116T |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,146,140 (GRCm39) |
|
probably null |
Het |
Ap3s1 |
T |
A |
18: 46,887,497 (GRCm39) |
D43E |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,299,059 (GRCm39) |
M2T |
possibly damaging |
Het |
Asah2 |
T |
A |
19: 31,991,708 (GRCm39) |
E451V |
probably benign |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Ass1 |
G |
A |
2: 31,378,665 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
A |
G |
9: 72,906,360 (GRCm39) |
T39A |
possibly damaging |
Het |
Cd101 |
T |
A |
3: 100,911,021 (GRCm39) |
Y879F |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh23 |
T |
C |
10: 60,272,586 (GRCm39) |
T530A |
possibly damaging |
Het |
Cep68 |
G |
T |
11: 20,188,477 (GRCm39) |
Q643K |
probably damaging |
Het |
Ces1c |
A |
G |
8: 93,854,197 (GRCm39) |
S113P |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,056,232 (GRCm39) |
I278T |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,842,402 (GRCm39) |
D1440G |
unknown |
Het |
Cspp1 |
A |
G |
1: 10,117,691 (GRCm39) |
I48V |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,664 (GRCm39) |
S85C |
possibly damaging |
Het |
Cyp39a1 |
C |
A |
17: 44,057,488 (GRCm39) |
D442E |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,868,292 (GRCm39) |
F664Y |
probably damaging |
Het |
Gpcpd1 |
A |
T |
2: 132,389,622 (GRCm39) |
H244Q |
probably benign |
Het |
Gtf3a |
T |
A |
5: 146,888,092 (GRCm39) |
V131E |
probably benign |
Het |
Gtpbp3 |
A |
T |
8: 71,943,026 (GRCm39) |
R147W |
probably damaging |
Het |
H2-Oa |
A |
T |
17: 34,313,344 (GRCm39) |
I132F |
probably damaging |
Het |
Hsd17b8 |
G |
A |
17: 34,246,552 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,937,963 (GRCm39) |
C91* |
probably null |
Het |
Itga11 |
A |
G |
9: 62,662,478 (GRCm39) |
I484V |
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,628,694 (GRCm39) |
S101N |
probably damaging |
Het |
Larp4 |
G |
A |
15: 99,870,898 (GRCm39) |
|
probably benign |
Het |
Mink1 |
T |
C |
11: 70,495,970 (GRCm39) |
L390P |
probably damaging |
Het |
Morc1 |
T |
G |
16: 48,322,715 (GRCm39) |
S337R |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,786,026 (GRCm39) |
R1236G |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,429,396 (GRCm39) |
I138T |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,502,936 (GRCm39) |
N489S |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,617,136 (GRCm39) |
I711F |
probably benign |
Het |
Ntrk3 |
A |
G |
7: 78,227,522 (GRCm39) |
S4P |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,464,607 (GRCm39) |
T1605A |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,655 (GRCm39) |
I214V |
possibly damaging |
Het |
Or7g32 |
A |
G |
9: 19,408,557 (GRCm39) |
E171G |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,856,316 (GRCm39) |
H54R |
probably benign |
Het |
Pgm2l1 |
A |
G |
7: 99,917,472 (GRCm39) |
I530V |
probably benign |
Het |
Psmd2 |
A |
G |
16: 20,480,405 (GRCm39) |
T709A |
probably benign |
Het |
Qsox1 |
G |
T |
1: 155,688,581 (GRCm39) |
|
probably benign |
Het |
Rbm14 |
A |
G |
19: 4,852,823 (GRCm39) |
S520P |
probably benign |
Het |
Rbm15b |
G |
A |
9: 106,762,120 (GRCm39) |
R683C |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,664,876 (GRCm39) |
V69D |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,438,576 (GRCm39) |
E27G |
possibly damaging |
Het |
Scn4a |
G |
A |
11: 106,239,553 (GRCm39) |
P153L |
probably damaging |
Het |
Serpinb6d |
A |
T |
13: 33,855,230 (GRCm39) |
R301S |
probably benign |
Het |
Sf3a2 |
C |
A |
10: 80,640,275 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,767 (GRCm39) |
D400G |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,915,460 (GRCm39) |
S2025G |
possibly damaging |
Het |
Ttc16 |
A |
T |
2: 32,657,988 (GRCm39) |
D476E |
probably damaging |
Het |
Ttc9c |
A |
T |
19: 8,793,396 (GRCm39) |
C81* |
probably null |
Het |
Vmn1r66 |
A |
G |
7: 10,008,722 (GRCm39) |
C104R |
probably damaging |
Het |
Vwa2 |
C |
T |
19: 56,897,752 (GRCm39) |
H686Y |
probably damaging |
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 |
IGL02185:Ulk2
|
APN |
11 |
61,672,886 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGATACAGCACAACAGATAATGTTC -3'
(R):5'- CACGTGGAATGCTGTTAGGAG -3'
Sequencing Primer
(F):5'- CTACAGTCTGCTTAAAAGCA -3'
(R):5'- GAAATAAAGTTCTGCCCTGGGTCC -3'
|
Posted On |
2016-06-06 |