Incidental Mutation 'R1346:Dyrk2'
| ID |
156508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dyrk2
|
| Ensembl Gene |
ENSMUSG00000028630 |
| Gene Name |
dual-specificity tyrosine phosphorylation regulated kinase 2 |
| Synonyms |
1810038L18Rik |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
118691508-118706114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118695624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 545
(K545E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004281]
|
| AlphaFold |
Q5U4C9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004281
AA Change: K545E
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: K545E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
220 |
533 |
1.16e-92 |
SMART |
|
low complexity region
|
560 |
574 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218692
|
| Meta Mutation Damage Score |
0.2025 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
| Other mutations in Dyrk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Dyrk2
|
APN |
10 |
118,695,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00536:Dyrk2
|
APN |
10 |
118,696,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Dyrk2
|
APN |
10 |
118,696,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Dyrk2
|
APN |
10 |
118,696,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Dyrk2
|
APN |
10 |
118,696,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02052:Dyrk2
|
APN |
10 |
118,696,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Dyrk2
|
UTSW |
10 |
118,704,668 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0833:Dyrk2
|
UTSW |
10 |
118,697,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0836:Dyrk2
|
UTSW |
10 |
118,697,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1610:Dyrk2
|
UTSW |
10 |
118,695,830 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2397:Dyrk2
|
UTSW |
10 |
118,697,273 (GRCm39) |
intron |
probably benign |
|
|
R2409:Dyrk2
|
UTSW |
10 |
118,696,532 (GRCm39) |
missense |
probably benign |
|
|
R2965:Dyrk2
|
UTSW |
10 |
118,696,242 (GRCm39) |
nonsense |
probably null |
|
|
R2966:Dyrk2
|
UTSW |
10 |
118,696,242 (GRCm39) |
nonsense |
probably null |
|
|
R4700:Dyrk2
|
UTSW |
10 |
118,704,191 (GRCm39) |
missense |
probably benign |
|
|
R4896:Dyrk2
|
UTSW |
10 |
118,704,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4978:Dyrk2
|
UTSW |
10 |
118,696,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5393:Dyrk2
|
UTSW |
10 |
118,695,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5442:Dyrk2
|
UTSW |
10 |
118,696,643 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5496:Dyrk2
|
UTSW |
10 |
118,695,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Dyrk2
|
UTSW |
10 |
118,696,245 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5875:Dyrk2
|
UTSW |
10 |
118,696,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Dyrk2
|
UTSW |
10 |
118,696,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Dyrk2
|
UTSW |
10 |
118,696,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Dyrk2
|
UTSW |
10 |
118,696,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7442:Dyrk2
|
UTSW |
10 |
118,695,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Dyrk2
|
UTSW |
10 |
118,695,594 (GRCm39) |
missense |
probably benign |
|
|
R8108:Dyrk2
|
UTSW |
10 |
118,695,734 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8137:Dyrk2
|
UTSW |
10 |
118,695,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8347:Dyrk2
|
UTSW |
10 |
118,695,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8507:Dyrk2
|
UTSW |
10 |
118,696,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8517:Dyrk2
|
UTSW |
10 |
118,696,926 (GRCm39) |
missense |
probably benign |
|
|
R8695:Dyrk2
|
UTSW |
10 |
118,696,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9018:Dyrk2
|
UTSW |
10 |
118,696,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9619:Dyrk2
|
UTSW |
10 |
118,696,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCTTCAGATTGCCAGCATCAGG -3'
(R):5'- CCCGATACTGCACAGTTACGACTC -3'
Sequencing Primer
(F):5'- CATCAGGGGGACTGGAGC -3'
(R):5'- GCACAGTTACGACTCTTTCAGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation