Incidental Mutation 'R8909:Ulk2'
| ID |
678517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ulk2
|
| Ensembl Gene |
ENSMUSG00000004798 |
| Gene Name |
unc-51 like kinase 2 |
| Synonyms |
A830085I22Rik, Unc51.2 |
| MMRRC Submission |
068700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R8909 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61666475-61745899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61690380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 636
(G636R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004920]
|
| AlphaFold |
Q9QY01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004920
AA Change: G636R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: G636R
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,111 (GRCm39) |
R698L |
possibly damaging |
Het |
| Btnl10 |
T |
C |
11: 58,813,198 (GRCm39) |
C276R |
probably benign |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cavin4 |
G |
A |
4: 48,672,421 (GRCm39) |
G289R |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,848,610 (GRCm39) |
F430S |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,014,086 (GRCm39) |
I1246T |
possibly damaging |
Het |
| Chd8 |
C |
T |
14: 52,450,389 (GRCm39) |
V1490M |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,195 (GRCm39) |
N137S |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,825,093 (GRCm39) |
S878T |
probably benign |
Het |
| Cryga |
G |
T |
1: 65,142,173 (GRCm39) |
S73R |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
| Dnai4 |
T |
G |
4: 102,944,607 (GRCm39) |
E248A |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,126,862 (GRCm39) |
S218P |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,192,508 (GRCm39) |
Q1491L |
possibly damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,444,159 (GRCm39) |
|
probably null |
Het |
| Helz |
A |
G |
11: 107,556,834 (GRCm39) |
D1284G |
possibly damaging |
Het |
| Iqsec3 |
G |
A |
6: 121,390,118 (GRCm39) |
A451V |
unknown |
Het |
| Kat6b |
A |
G |
14: 21,719,214 (GRCm39) |
T1189A |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,079,736 (GRCm39) |
F1203Y |
|
Het |
| Lingo2 |
A |
G |
4: 35,708,349 (GRCm39) |
S544P |
probably damaging |
Het |
| Llcfc1 |
T |
C |
6: 41,661,525 (GRCm39) |
V25A |
probably benign |
Het |
| Map1a |
A |
C |
2: 121,129,391 (GRCm39) |
H143P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,169,233 (GRCm39) |
V1468A |
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,919,385 (GRCm39) |
M367K |
possibly damaging |
Het |
| Myo3b |
G |
A |
2: 70,083,440 (GRCm39) |
A698T |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,970,833 (GRCm39) |
D272V |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,718,032 (GRCm39) |
S69P |
probably damaging |
Het |
| Or56a5 |
C |
T |
7: 104,793,249 (GRCm39) |
V84I |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,888 (GRCm39) |
M156I |
probably benign |
Het |
| Or8k27 |
C |
T |
2: 86,276,082 (GRCm39) |
M81I |
possibly damaging |
Het |
| Os9 |
C |
A |
10: 126,956,825 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,184,758 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Plod1 |
T |
A |
4: 148,011,563 (GRCm39) |
K221* |
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,509,461 (GRCm39) |
T795A |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,553 (GRCm39) |
Q191R |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,723 (GRCm39) |
E246G |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,503,481 (GRCm39) |
M178T |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,019,697 (GRCm39) |
|
probably benign |
Het |
| Saa1 |
T |
C |
7: 46,390,773 (GRCm39) |
N46S |
probably benign |
Het |
| Samd12 |
A |
G |
15: 53,521,853 (GRCm39) |
L119P |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,094 (GRCm39) |
E151G |
unknown |
Het |
| Serpina1a |
T |
C |
12: 103,820,938 (GRCm39) |
K370E |
probably damaging |
Het |
| Slc49a3 |
C |
T |
5: 108,592,432 (GRCm39) |
V253I |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,762,131 (GRCm39) |
S681I |
|
Het |
| V1ra8 |
T |
C |
6: 90,179,938 (GRCm39) |
L47P |
possibly damaging |
Het |
| Wasf3 |
T |
C |
5: 146,392,410 (GRCm39) |
L160P |
|
Het |
| Zbtb34 |
A |
C |
2: 33,301,701 (GRCm39) |
V280G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,478,515 (GRCm39) |
Y231H |
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 |
|
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 |
|
|
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'- AGGAAGAGCTCTATGCAGTTACTG -3'
(R):5'- ACTAAGGTGTGTTTCTTAAGCCTG -3'
Sequencing Primer
(F):5'- GAGCTCTATGCAGTTACTGGAAAC -3'
(R):5'- GAACAGCACAATGTCATACAGATTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation