Incidental Mutation 'R1680:Dclk2'
ID |
188394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dclk2
|
Ensembl Gene |
ENSMUSG00000028078 |
Gene Name |
doublecortin-like kinase 2 |
Synonyms |
Dcamkl2, Click-II, 6330415M09Rik |
MMRRC Submission |
039716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
86786151-86920852 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86805639 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 503
(R503Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029719]
[ENSMUST00000191752]
[ENSMUST00000192773]
[ENSMUST00000193632]
[ENSMUST00000194452]
[ENSMUST00000195561]
|
AlphaFold |
Q6PGN3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029719
AA Change: R503Q
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029719 Gene: ENSMUSG00000028078 AA Change: R503Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
2.29e-42 |
SMART |
DCX
|
191 |
279 |
2.17e-34 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
S_TKc
|
393 |
650 |
4.96e-101 |
SMART |
low complexity region
|
718 |
740 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191752
AA Change: R503Q
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141707 Gene: ENSMUSG00000028078 AA Change: R503Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
2.29e-42 |
SMART |
DCX
|
191 |
279 |
2.17e-34 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
S_TKc
|
393 |
646 |
2.4e-76 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192773
AA Change: R502Q
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000141567 Gene: ENSMUSG00000028078 AA Change: R502Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
1.1e-44 |
SMART |
DCX
|
191 |
279 |
9.9e-37 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
S_TKc
|
392 |
641 |
8.6e-81 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193632
AA Change: R519Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141866 Gene: ENSMUSG00000028078 AA Change: R519Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
1.1e-44 |
SMART |
DCX
|
191 |
279 |
9.9e-37 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
339 |
362 |
N/A |
INTRINSIC |
S_TKc
|
409 |
666 |
2.4e-103 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194452
AA Change: R502Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141816 Gene: ENSMUSG00000028078 AA Change: R502Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
2.29e-42 |
SMART |
DCX
|
191 |
279 |
2.17e-34 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
392 |
590 |
2.2e-31 |
PFAM |
Pfam:Pkinase
|
392 |
591 |
4.7e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195561
AA Change: R502Q
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142267 Gene: ENSMUSG00000028078 AA Change: R502Q
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
43 |
N/A |
INTRINSIC |
DCX
|
67 |
158 |
2.29e-42 |
SMART |
DCX
|
191 |
279 |
2.17e-34 |
SMART |
low complexity region
|
291 |
317 |
N/A |
INTRINSIC |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
S_TKc
|
392 |
649 |
4.96e-101 |
SMART |
low complexity region
|
717 |
739 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmoduline-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. This gene and the DCX gene, another family member, share function in the establishment of hippocampal organization and their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]
|
Allele List at MGI |
All alleles(59) : Targeted, knock-out(1) Gene trapped(58) |
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
G |
10: 100,603,528 (GRCm38) |
P187R |
probably damaging |
Het |
Ahnak |
T |
A |
19: 9,009,963 (GRCm38) |
H2870Q |
probably benign |
Het |
Arhgef33 |
C |
T |
17: 80,347,651 (GRCm38) |
S95F |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,278,954 (GRCm38) |
D827V |
probably damaging |
Het |
Bcat1 |
T |
G |
6: 145,039,628 (GRCm38) |
D96A |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,548,746 (GRCm38) |
I184L |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,837,824 (GRCm38) |
L415M |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,643,726 (GRCm38) |
V617A |
probably benign |
Het |
Col22a1 |
G |
A |
15: 71,799,361 (GRCm38) |
A1050V |
unknown |
Het |
Col5a3 |
C |
T |
9: 20,784,668 (GRCm38) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,741,170 (GRCm38) |
T1059I |
probably damaging |
Het |
Dnm3 |
A |
G |
1: 162,010,976 (GRCm38) |
V272A |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,873,361 (GRCm38) |
Q187R |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,190,103 (GRCm38) |
Y710H |
probably benign |
Het |
Eef1a2 |
A |
T |
2: 181,152,941 (GRCm38) |
M155K |
possibly damaging |
Het |
Entpd8 |
G |
A |
2: 25,084,024 (GRCm38) |
C331Y |
probably damaging |
Het |
Erc1 |
A |
C |
6: 119,575,761 (GRCm38) |
L1072R |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,586,851 (GRCm38) |
Y482C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,173,868 (GRCm38) |
S155P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,722,493 (GRCm38) |
S617P |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,605,448 (GRCm38) |
R840G |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,351,793 (GRCm38) |
Y299H |
possibly damaging |
Het |
Ints7 |
T |
G |
1: 191,621,162 (GRCm38) |
|
probably null |
Het |
Ireb2 |
C |
T |
9: 54,881,518 (GRCm38) |
T92I |
probably damaging |
Het |
Itprid1 |
C |
T |
6: 55,968,766 (GRCm38) |
T824I |
probably damaging |
Het |
Kcnj8 |
A |
T |
6: 142,570,189 (GRCm38) |
L64* |
probably null |
Het |
Mapk8ip3 |
A |
G |
17: 24,901,011 (GRCm38) |
V983A |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,801,636 (GRCm38) |
D985G |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,959,643 (GRCm38) |
S1307R |
probably benign |
Het |
Mtcl3 |
A |
T |
10: 29,196,839 (GRCm38) |
Q709L |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,364,622 (GRCm38) |
D222G |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,550,998 (GRCm38) |
S295* |
probably null |
Het |
Nlrp12 |
T |
A |
7: 3,241,174 (GRCm38) |
D236V |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,906,802 (GRCm38) |
V74A |
probably benign |
Het |
Oasl1 |
A |
G |
5: 114,935,944 (GRCm38) |
D304G |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,670,733 (GRCm38) |
D271G |
possibly damaging |
Het |
Or7g12 |
A |
G |
9: 18,988,516 (GRCm38) |
H176R |
possibly damaging |
Het |
Or8g22 |
T |
C |
9: 39,047,000 (GRCm38) |
I140V |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,923,161 (GRCm38) |
V124I |
probably benign |
Het |
Patz1 |
A |
G |
11: 3,307,812 (GRCm38) |
K604E |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 66,035,250 (GRCm38) |
V793E |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,277,750 (GRCm38) |
|
probably null |
Het |
Plxnc1 |
A |
C |
10: 94,841,551 (GRCm38) |
L938R |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 78,434,831 (GRCm38) |
A381D |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,899,223 (GRCm38) |
L685P |
possibly damaging |
Het |
Pxn |
T |
A |
5: 115,552,147 (GRCm38) |
V383E |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,174,783 (GRCm38) |
L632P |
probably damaging |
Het |
Rnf135 |
T |
A |
11: 80,196,881 (GRCm38) |
S219T |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,791,436 (GRCm38) |
D2039G |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
Slc5a6 |
A |
G |
5: 31,042,644 (GRCm38) |
Y131H |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,418,080 (GRCm38) |
I492T |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,320,616 (GRCm38) |
K993E |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,159,371 (GRCm38) |
I75L |
possibly damaging |
Het |
Syngap1 |
T |
C |
17: 26,952,579 (GRCm38) |
S46P |
possibly damaging |
Het |
Tfcp2l1 |
T |
A |
1: 118,675,605 (GRCm38) |
F458I |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,087,840 (GRCm38) |
V102A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 57,121,961 (GRCm38) |
S34P |
unknown |
Het |
Txlnb |
G |
T |
10: 17,843,233 (GRCm38) |
G604V |
probably benign |
Het |
Ube2q1 |
A |
G |
3: 89,776,176 (GRCm38) |
T143A |
probably benign |
Het |
Unc80 |
C |
T |
1: 66,503,669 (GRCm38) |
R361* |
probably null |
Het |
Vcan |
T |
C |
13: 89,703,547 (GRCm38) |
D1098G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,835,381 (GRCm38) |
T116S |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,454,423 (GRCm38) |
R6K |
probably benign |
Het |
Zan |
T |
A |
5: 137,403,050 (GRCm38) |
T4136S |
unknown |
Het |
Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
Zfp606 |
A |
T |
7: 12,493,971 (GRCm38) |
H615L |
probably damaging |
Het |
Zp3r |
A |
T |
1: 130,582,880 (GRCm38) |
N433K |
probably benign |
Het |
|
Other mutations in Dclk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Dclk2
|
APN |
3 |
86,799,090 (GRCm38) |
critical splice acceptor site |
probably null |
|
IGL01769:Dclk2
|
APN |
3 |
86,816,360 (GRCm38) |
missense |
possibly damaging |
0.50 |
IGL01802:Dclk2
|
APN |
3 |
86,799,027 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02296:Dclk2
|
APN |
3 |
86,793,293 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02390:Dclk2
|
APN |
3 |
86,824,683 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02522:Dclk2
|
APN |
3 |
86,920,116 (GRCm38) |
missense |
probably benign |
0.01 |
IGL03104:Dclk2
|
APN |
3 |
86,836,359 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03337:Dclk2
|
APN |
3 |
86,906,059 (GRCm38) |
missense |
probably damaging |
1.00 |
R0219:Dclk2
|
UTSW |
3 |
86,813,669 (GRCm38) |
splice site |
probably benign |
|
R0400:Dclk2
|
UTSW |
3 |
86,813,747 (GRCm38) |
splice site |
probably null |
|
R0606:Dclk2
|
UTSW |
3 |
86,906,004 (GRCm38) |
missense |
probably damaging |
1.00 |
R1537:Dclk2
|
UTSW |
3 |
86,806,184 (GRCm38) |
missense |
probably damaging |
0.97 |
R1569:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1571:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1612:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1689:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1714:Dclk2
|
UTSW |
3 |
86,906,093 (GRCm38) |
missense |
probably benign |
0.00 |
R1745:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1746:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1752:Dclk2
|
UTSW |
3 |
86,806,127 (GRCm38) |
missense |
possibly damaging |
0.61 |
R1829:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R2008:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R2125:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R2126:Dclk2
|
UTSW |
3 |
86,805,639 (GRCm38) |
missense |
possibly damaging |
0.50 |
R2132:Dclk2
|
UTSW |
3 |
86,920,046 (GRCm38) |
missense |
probably benign |
0.44 |
R2314:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R2338:Dclk2
|
UTSW |
3 |
86,799,017 (GRCm38) |
missense |
probably damaging |
1.00 |
R2849:Dclk2
|
UTSW |
3 |
86,793,223 (GRCm38) |
missense |
probably damaging |
1.00 |
R3108:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R3109:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R3615:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R3616:Dclk2
|
UTSW |
3 |
86,920,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R4051:Dclk2
|
UTSW |
3 |
86,830,822 (GRCm38) |
critical splice donor site |
probably null |
|
R4052:Dclk2
|
UTSW |
3 |
86,830,822 (GRCm38) |
critical splice donor site |
probably null |
|
R4208:Dclk2
|
UTSW |
3 |
86,830,822 (GRCm38) |
critical splice donor site |
probably null |
|
R4643:Dclk2
|
UTSW |
3 |
86,806,180 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4654:Dclk2
|
UTSW |
3 |
86,836,376 (GRCm38) |
missense |
probably damaging |
1.00 |
R4693:Dclk2
|
UTSW |
3 |
86,815,093 (GRCm38) |
missense |
possibly damaging |
0.67 |
R4716:Dclk2
|
UTSW |
3 |
86,919,881 (GRCm38) |
missense |
probably damaging |
1.00 |
R4914:Dclk2
|
UTSW |
3 |
86,824,742 (GRCm38) |
splice site |
probably null |
|
R4915:Dclk2
|
UTSW |
3 |
86,824,742 (GRCm38) |
splice site |
probably null |
|
R4917:Dclk2
|
UTSW |
3 |
86,824,742 (GRCm38) |
splice site |
probably null |
|
R5218:Dclk2
|
UTSW |
3 |
86,805,678 (GRCm38) |
missense |
probably damaging |
1.00 |
R5510:Dclk2
|
UTSW |
3 |
86,906,037 (GRCm38) |
missense |
possibly damaging |
0.93 |
R5520:Dclk2
|
UTSW |
3 |
86,919,840 (GRCm38) |
missense |
probably damaging |
1.00 |
R5867:Dclk2
|
UTSW |
3 |
86,791,859 (GRCm38) |
makesense |
probably null |
|
R5976:Dclk2
|
UTSW |
3 |
86,787,225 (GRCm38) |
missense |
possibly damaging |
0.53 |
R6048:Dclk2
|
UTSW |
3 |
86,905,965 (GRCm38) |
missense |
probably damaging |
1.00 |
R6111:Dclk2
|
UTSW |
3 |
86,805,661 (GRCm38) |
missense |
probably benign |
0.28 |
R6192:Dclk2
|
UTSW |
3 |
86,815,150 (GRCm38) |
missense |
probably damaging |
1.00 |
R6289:Dclk2
|
UTSW |
3 |
86,831,817 (GRCm38) |
missense |
probably benign |
0.18 |
R6595:Dclk2
|
UTSW |
3 |
86,792,067 (GRCm38) |
critical splice donor site |
probably benign |
|
R6897:Dclk2
|
UTSW |
3 |
86,831,763 (GRCm38) |
missense |
probably benign |
0.00 |
R7061:Dclk2
|
UTSW |
3 |
86,831,731 (GRCm38) |
critical splice donor site |
probably null |
|
R7095:Dclk2
|
UTSW |
3 |
86,793,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R7096:Dclk2
|
UTSW |
3 |
86,793,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R7208:Dclk2
|
UTSW |
3 |
86,799,602 (GRCm38) |
splice site |
probably null |
|
R7253:Dclk2
|
UTSW |
3 |
86,793,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R7256:Dclk2
|
UTSW |
3 |
86,793,259 (GRCm38) |
missense |
probably damaging |
1.00 |
R8003:Dclk2
|
UTSW |
3 |
86,793,301 (GRCm38) |
critical splice acceptor site |
probably null |
|
R8061:Dclk2
|
UTSW |
3 |
86,813,674 (GRCm38) |
splice site |
probably benign |
|
R8927:Dclk2
|
UTSW |
3 |
86,831,741 (GRCm38) |
missense |
probably damaging |
1.00 |
R8928:Dclk2
|
UTSW |
3 |
86,831,741 (GRCm38) |
missense |
probably damaging |
1.00 |
R8964:Dclk2
|
UTSW |
3 |
86,836,391 (GRCm38) |
missense |
probably damaging |
1.00 |
R9704:Dclk2
|
UTSW |
3 |
86,920,080 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGTATGCACTGATTCAAGATGCCC -3'
(R):5'- TCTTCTGCAAACTGATGTGACACCC -3'
Sequencing Primer
(F):5'- CACTGATTCAAGATGCCCATTAGG -3'
(R):5'- CTTCTTATTTCAGAGGACCGAACTG -3'
|
Posted On |
2014-05-09 |