Incidental Mutation 'R2177:Ulk2'
| ID |
236955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk2
|
| Ensembl Gene |
ENSMUSG00000004798 |
| Gene Name |
unc-51 like kinase 2 |
| Synonyms |
A830085I22Rik, Unc51.2 |
| MMRRC Submission |
040179-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R2177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61682335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 727
(T727S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
| AlphaFold |
Q9QY01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004920
AA Change: T727S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: T727S
| 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
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
| Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
| Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
| AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
| Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
| Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
| Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
| Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
| Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
| Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
| Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
| Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
| Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
| Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
| Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
| Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
| Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
| Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
| Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
| Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
| Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
| Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
| Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTACAGGGACAGAAAGCAAAG -3'
(R):5'- AAACATTGAATACTGGGCTTCTTT -3'
Sequencing Primer
(F):5'- GGCAAGAGAAGTGAGGGGATTTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation