Incidental Mutation 'R3108:Dclk2'
| ID |
263654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dclk2
|
| Ensembl Gene |
ENSMUSG00000028078 |
| Gene Name |
doublecortin-like kinase 2 |
| Synonyms |
Dcamkl2, Click-II, 6330415M09Rik |
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
Genbank: NM_027539; MGI: 1918012 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
86786151-86920852 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86920035 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 46
(P46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029719]
[ENSMUST00000191752]
[ENSMUST00000192773]
[ENSMUST00000193632]
[ENSMUST00000194452]
[ENSMUST00000195561]
|
| AlphaFold |
Q6PGN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029719
AA Change: P46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029719
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 |
probably damaging
Transcript: ENSMUST00000191752
AA Change: P46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141707
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 damaging
Transcript: ENSMUST00000192773
AA Change: P46S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141567
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 damaging
Transcript: ENSMUST00000193632
AA Change: P46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141866
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 |
possibly damaging
Transcript: ENSMUST00000194452
AA Change: P46S
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141816
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 damaging
Transcript: ENSMUST00000195561
AA Change: P46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142267
Gene: ENSMUSG00000028078
AA Change: P46S
| 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 |
0.1082 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 79,323,585 |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,169,453 |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 127,056,306 |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,781,624 |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,994,683 |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 95,735,749 |
V1691A |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,912,387 |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 141,292,282 |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,021,816 |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,312,989 |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,045,173 |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,913,871 |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,328 |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,858,759 |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,522,978 |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,460,515 |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,117,306 |
T210K |
probably null |
Het |
| Olfr466 |
T |
C |
13: 65,153,061 |
V279A |
possibly damaging |
Het |
| Olfr591 |
T |
A |
7: 103,173,086 |
M184L |
probably damaging |
Het |
| Pak4 |
A |
T |
7: 28,564,344 |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,493,386 |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 51,782,782 |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,853,841 |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,229,245 |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,126,721 |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,636,155 |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,592,066 |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 80,331,546 |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,489,996 |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,746,816 |
C676S |
probably damaging |
Het |
|
| Other mutations in Dclk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Dclk2
|
APN |
3 |
86799090 |
critical splice acceptor site |
probably null |
|
|
IGL01769:Dclk2
|
APN |
3 |
86816360 |
missense |
possibly damaging |
0.50 |
|
IGL01802:Dclk2
|
APN |
3 |
86799027 |
missense |
probably damaging |
1.00 |
|
IGL02296:Dclk2
|
APN |
3 |
86793293 |
missense |
probably damaging |
1.00 |
|
IGL02390:Dclk2
|
APN |
3 |
86824683 |
missense |
probably damaging |
0.99 |
|
IGL02522:Dclk2
|
APN |
3 |
86920116 |
missense |
probably benign |
0.01 |
|
IGL03104:Dclk2
|
APN |
3 |
86836359 |
missense |
probably damaging |
1.00 |
|
IGL03337:Dclk2
|
APN |
3 |
86906059 |
missense |
probably damaging |
1.00 |
|
R0219:Dclk2
|
UTSW |
3 |
86813669 |
splice site |
probably benign |
|
|
R0400:Dclk2
|
UTSW |
3 |
86813747 |
splice site |
probably null |
|
|
R0606:Dclk2
|
UTSW |
3 |
86906004 |
missense |
probably damaging |
1.00 |
|
R1537:Dclk2
|
UTSW |
3 |
86806184 |
missense |
probably damaging |
0.97 |
|
R1569:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1571:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1612:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1680:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1689:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1714:Dclk2
|
UTSW |
3 |
86906093 |
missense |
probably benign |
0.00 |
|
R1745:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1746:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R1752:Dclk2
|
UTSW |
3 |
86806127 |
missense |
possibly damaging |
0.61 |
|
R1829:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R2008:Dclk2
|
UTSW |
3 |
86920035 |
missense |
probably damaging |
1.00 |
|
R2125:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R2126:Dclk2
|
UTSW |
3 |
86805639 |
missense |
possibly damaging |
0.50 |
|
R2132:Dclk2
|
UTSW |
3 |
86920046 |
missense |
probably benign |
0.44 |
|
R2314:Dclk2
|
UTSW |
3 |
86920035 |
missense |
probably damaging |
1.00 |
|
R2338:Dclk2
|
UTSW |
3 |
86799017 |
missense |
probably damaging |
1.00 |
|
R2849:Dclk2
|
UTSW |
3 |
86793223 |
missense |
probably damaging |
1.00 |
|
R3109:Dclk2
|
UTSW |
3 |
86920035 |
missense |
probably damaging |
1.00 |
|
R3615:Dclk2
|
UTSW |
3 |
86920035 |
missense |
probably damaging |
1.00 |
|
R3616:Dclk2
|
UTSW |
3 |
86920035 |
missense |
probably damaging |
1.00 |
|
R4051:Dclk2
|
UTSW |
3 |
86830822 |
critical splice donor site |
probably null |
|
|
R4052:Dclk2
|
UTSW |
3 |
86830822 |
critical splice donor site |
probably null |
|
|
R4208:Dclk2
|
UTSW |
3 |
86830822 |
critical splice donor site |
probably null |
|
|
R4643:Dclk2
|
UTSW |
3 |
86806180 |
missense |
possibly damaging |
0.93 |
|
R4654:Dclk2
|
UTSW |
3 |
86836376 |
missense |
probably damaging |
1.00 |
|
R4693:Dclk2
|
UTSW |
3 |
86815093 |
missense |
possibly damaging |
0.67 |
|
R4716:Dclk2
|
UTSW |
3 |
86919881 |
missense |
probably damaging |
1.00 |
|
R4914:Dclk2
|
UTSW |
3 |
86824742 |
splice site |
probably null |
|
|
R4915:Dclk2
|
UTSW |
3 |
86824742 |
splice site |
probably null |
|
|
R4917:Dclk2
|
UTSW |
3 |
86824742 |
splice site |
probably null |
|
|
R5218:Dclk2
|
UTSW |
3 |
86805678 |
missense |
probably damaging |
1.00 |
|
R5510:Dclk2
|
UTSW |
3 |
86906037 |
missense |
possibly damaging |
0.93 |
|
R5520:Dclk2
|
UTSW |
3 |
86919840 |
missense |
probably damaging |
1.00 |
|
R5867:Dclk2
|
UTSW |
3 |
86791859 |
makesense |
probably null |
|
|
R5976:Dclk2
|
UTSW |
3 |
86787225 |
missense |
possibly damaging |
0.53 |
|
R6048:Dclk2
|
UTSW |
3 |
86905965 |
missense |
probably damaging |
1.00 |
|
R6111:Dclk2
|
UTSW |
3 |
86805661 |
missense |
probably benign |
0.28 |
|
R6192:Dclk2
|
UTSW |
3 |
86815150 |
missense |
probably damaging |
1.00 |
|
R6289:Dclk2
|
UTSW |
3 |
86831817 |
missense |
probably benign |
0.18 |
|
R6595:Dclk2
|
UTSW |
3 |
86792067 |
critical splice donor site |
probably benign |
|
|
R6897:Dclk2
|
UTSW |
3 |
86831763 |
missense |
probably benign |
0.00 |
|
R7061:Dclk2
|
UTSW |
3 |
86831731 |
critical splice donor site |
probably null |
|
|
R7095:Dclk2
|
UTSW |
3 |
86793259 |
missense |
probably damaging |
1.00 |
|
R7096:Dclk2
|
UTSW |
3 |
86793259 |
missense |
probably damaging |
1.00 |
|
R7208:Dclk2
|
UTSW |
3 |
86799602 |
splice site |
probably null |
|
|
R7253:Dclk2
|
UTSW |
3 |
86793259 |
missense |
probably damaging |
1.00 |
|
R7256:Dclk2
|
UTSW |
3 |
86793259 |
missense |
probably damaging |
1.00 |
|
R8003:Dclk2
|
UTSW |
3 |
86793301 |
critical splice acceptor site |
probably null |
|
|
R8061:Dclk2
|
UTSW |
3 |
86813674 |
splice site |
probably benign |
|
|
R8927:Dclk2
|
UTSW |
3 |
86831741 |
missense |
probably damaging |
1.00 |
|
R8928:Dclk2
|
UTSW |
3 |
86831741 |
missense |
probably damaging |
1.00 |
|
R8964:Dclk2
|
UTSW |
3 |
86836391 |
missense |
probably damaging |
1.00 |
|
R9704:Dclk2
|
UTSW |
3 |
86920080 |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATGAGGAGCGCATCGAAGG -3'
(R):5'- AGGTGTCCCGCTGCTTTAAG -3'
Sequencing Primer
(F):5'- CGCATCGAAGGAACGGAAAC -3'
(R):5'- CGCTGCTTTAAGACGGGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation