Incidental Mutation 'R9704:Ulk2'
| ID |
729715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk2
|
| Ensembl Gene |
ENSMUSG00000004798 |
| Gene Name |
unc-51 like kinase 2 |
| Synonyms |
A830085I22Rik, Unc51.2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R9704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61716694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 270
(F270S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
| AlphaFold |
Q9QY01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004920
AA Change: F270S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: F270S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
| Aass |
C |
A |
6: 23,120,887 (GRCm39) |
V126F |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,895,237 (GRCm39) |
Q1109H |
|
Het |
| Ccdc57 |
A |
C |
11: 120,764,531 (GRCm39) |
V748G |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,827,387 (GRCm39) |
S31P |
possibly damaging |
Het |
| Dnah5 |
C |
G |
15: 28,247,965 (GRCm39) |
P701A |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,440,130 (GRCm39) |
T642A |
probably damaging |
Het |
| Fam149a |
G |
A |
8: 45,795,502 (GRCm39) |
R670W |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,579 (GRCm39) |
D646G |
probably benign |
Het |
| Gabrr2 |
G |
A |
4: 33,063,305 (GRCm39) |
V43M |
possibly damaging |
Het |
| Gli3 |
T |
A |
13: 15,898,058 (GRCm39) |
C713S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,160,253 (GRCm39) |
|
probably null |
Het |
| Ighv2-9 |
T |
A |
12: 113,842,746 (GRCm39) |
D107V |
possibly damaging |
Het |
| Jak2 |
C |
A |
19: 29,275,730 (GRCm39) |
C723* |
probably null |
Het |
| Lcor |
T |
C |
19: 41,572,498 (GRCm39) |
S418P |
possibly damaging |
Het |
| Lnx1 |
A |
T |
5: 74,780,879 (GRCm39) |
V214E |
probably benign |
Het |
| Luzp1 |
T |
A |
4: 136,268,604 (GRCm39) |
S276T |
probably benign |
Het |
| Meig1 |
A |
G |
2: 3,410,336 (GRCm39) |
Y55H |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,071,617 (GRCm39) |
Q478L |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nxph2 |
T |
C |
2: 23,289,723 (GRCm39) |
V25A |
probably benign |
Het |
| Onecut1 |
G |
A |
9: 74,770,258 (GRCm39) |
G227D |
probably benign |
Het |
| Phf2 |
G |
T |
13: 48,959,374 (GRCm39) |
D877E |
unknown |
Het |
| Pik3cd |
C |
A |
4: 149,739,839 (GRCm39) |
R548L |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,993,905 (GRCm39) |
Q830* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,737,646 (GRCm39) |
Y2219C |
probably damaging |
Het |
| Spag11b |
A |
G |
8: 19,191,474 (GRCm39) |
N49S |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,743,086 (GRCm39) |
I167F |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Sv2b |
T |
G |
7: 74,797,420 (GRCm39) |
M325L |
possibly damaging |
Het |
| Tpsb2 |
A |
G |
17: 25,585,834 (GRCm39) |
I57M |
probably benign |
Het |
| Ttf2 |
T |
C |
3: 100,859,920 (GRCm39) |
E678G |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,237,102 (GRCm39) |
V603I |
probably benign |
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 |
|
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 |
|
|
X0028:Ulk2
|
UTSW |
11 |
61,690,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTACCAATACAATCATAGGTAC -3'
(R):5'- GATGTTCATATGGACTGAAGTTGCTC -3'
Sequencing Primer
(F):5'- CCAATACAATCATAGGTACGTAGGG -3'
(R):5'- TGGACTGAAGTTGCTCTTTTATATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation