Incidental Mutation 'IGL02976:Clasp2'
ID |
406405 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clasp2
|
Ensembl Gene |
ENSMUSG00000033392 |
Gene Name |
CLIP associating protein 2 |
Synonyms |
1500004F14Rik, CLASP2gamma, CLASP2beta, CLASP2alpha, CLASP2, 8030404L10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02976
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
113741473-113919682 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113906136 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1031
(P1031L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111838]
[ENSMUST00000163895]
[ENSMUST00000166734]
[ENSMUST00000213663]
[ENSMUST00000214522]
[ENSMUST00000215022]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111838
AA Change: P1013L
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: P1013L
Domain | Start | End | E-Value | Type |
TOG
|
90 |
323 |
1.17e-8 |
SMART |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
low complexity region
|
562 |
572 |
N/A |
INTRINSIC |
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
TOG
|
640 |
877 |
2.03e-1 |
SMART |
low complexity region
|
995 |
1009 |
N/A |
INTRINSIC |
TOG
|
1043 |
1274 |
1.49e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163895
AA Change: P1034L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: P1034L
Domain | Start | End | E-Value | Type |
TOG
|
90 |
323 |
1.17e-8 |
SMART |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
low complexity region
|
583 |
593 |
N/A |
INTRINSIC |
low complexity region
|
635 |
655 |
N/A |
INTRINSIC |
TOG
|
661 |
898 |
2.03e-1 |
SMART |
low complexity region
|
1016 |
1030 |
N/A |
INTRINSIC |
TOG
|
1064 |
1295 |
1.49e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166734
AA Change: P1014L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: P1014L
Domain | Start | End | E-Value | Type |
TOG
|
90 |
323 |
1.17e-8 |
SMART |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
low complexity region
|
562 |
572 |
N/A |
INTRINSIC |
low complexity region
|
614 |
634 |
N/A |
INTRINSIC |
TOG
|
640 |
878 |
7.51e-1 |
SMART |
low complexity region
|
996 |
1010 |
N/A |
INTRINSIC |
TOG
|
1044 |
1275 |
1.49e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213663
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214522
AA Change: P1031L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
A |
G |
9: 101,939,646 (GRCm38) |
T84A |
possibly damaging |
Het |
Adgrd1 |
T |
A |
5: 129,131,597 (GRCm38) |
S288T |
probably benign |
Het |
Ano7 |
T |
A |
1: 93,402,673 (GRCm38) |
D806E |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,623,896 (GRCm38) |
L79P |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,099,828 (GRCm38) |
C695* |
probably null |
Het |
Carmil1 |
T |
C |
13: 24,092,551 (GRCm38) |
N610S |
possibly damaging |
Het |
Cdc40 |
A |
G |
10: 40,882,921 (GRCm38) |
V52A |
probably benign |
Het |
Chd4 |
G |
A |
6: 125,121,368 (GRCm38) |
R369H |
probably damaging |
Het |
Cldn34d |
C |
T |
X: 76,583,084 (GRCm38) |
A121T |
probably benign |
Het |
Clmp |
A |
C |
9: 40,781,224 (GRCm38) |
Y263S |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,419,099 (GRCm38) |
|
probably benign |
Het |
Folh1 |
A |
T |
7: 86,762,918 (GRCm38) |
M215K |
probably benign |
Het |
Fut1 |
C |
T |
7: 45,619,320 (GRCm38) |
R233C |
probably damaging |
Het |
Gcdh |
A |
C |
8: 84,888,578 (GRCm38) |
Y398D |
probably damaging |
Het |
Gm26741 |
T |
G |
10: 52,358,814 (GRCm38) |
S16R |
possibly damaging |
Het |
Jph3 |
T |
A |
8: 121,753,084 (GRCm38) |
L167Q |
probably damaging |
Het |
Jup |
A |
G |
11: 100,378,366 (GRCm38) |
V407A |
probably benign |
Het |
Kif17 |
C |
T |
4: 138,269,063 (GRCm38) |
A117V |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 84,702,671 (GRCm38) |
P3L |
possibly damaging |
Het |
Magi2 |
C |
T |
5: 20,534,475 (GRCm38) |
P349S |
probably damaging |
Het |
Mlycd |
T |
C |
8: 119,401,485 (GRCm38) |
M177T |
possibly damaging |
Het |
Mocos |
A |
G |
18: 24,666,569 (GRCm38) |
K287E |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,137,523 (GRCm38) |
H425L |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,447,777 (GRCm38) |
|
probably benign |
Het |
Myo3a |
G |
A |
2: 22,542,452 (GRCm38) |
W825* |
probably null |
Het |
Npas2 |
T |
C |
1: 39,287,484 (GRCm38) |
S17P |
probably damaging |
Het |
Nrk |
A |
G |
X: 138,992,068 (GRCm38) |
I1174V |
probably benign |
Het |
Or1e32 |
A |
G |
11: 73,814,317 (GRCm38) |
I255T |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,035,973 (GRCm38) |
Y256* |
probably null |
Het |
Or4k2 |
G |
A |
14: 50,186,432 (GRCm38) |
Q262* |
probably null |
Het |
Parpbp |
A |
G |
10: 88,111,594 (GRCm38) |
|
probably null |
Het |
Pcdh10 |
T |
C |
3: 45,380,013 (GRCm38) |
V254A |
possibly damaging |
Het |
Plod1 |
C |
T |
4: 147,913,321 (GRCm38) |
V644I |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,971,784 (GRCm38) |
V149A |
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,638,248 (GRCm38) |
E320G |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 33,933,962 (GRCm38) |
D448E |
possibly damaging |
Het |
Rnf32 |
C |
T |
5: 29,206,712 (GRCm38) |
|
probably null |
Het |
Rpa1 |
T |
A |
11: 75,312,802 (GRCm38) |
D358V |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,851,842 (GRCm38) |
N747S |
probably damaging |
Het |
Slc17a4 |
A |
C |
13: 23,905,424 (GRCm38) |
M170R |
probably damaging |
Het |
Slc5a4a |
G |
A |
10: 76,170,693 (GRCm38) |
V310M |
possibly damaging |
Het |
Spag9 |
G |
A |
11: 94,083,953 (GRCm38) |
R463H |
probably benign |
Het |
Spmip5 |
A |
T |
19: 58,789,120 (GRCm38) |
V78E |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,641,971 (GRCm38) |
I538F |
probably benign |
Het |
Syt10 |
A |
G |
15: 89,814,479 (GRCm38) |
S221P |
probably benign |
Het |
Tlk1 |
T |
A |
2: 70,721,591 (GRCm38) |
K579* |
probably null |
Het |
Tubgcp3 |
T |
C |
8: 12,632,300 (GRCm38) |
Y673C |
probably damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,249,995 (GRCm38) |
F253S |
probably damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,468,998 (GRCm38) |
M14T |
probably benign |
Het |
Zfp59 |
A |
G |
7: 27,853,396 (GRCm38) |
D91G |
probably benign |
Het |
|
Other mutations in Clasp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Clasp2
|
APN |
9 |
113,905,992 (GRCm38) |
splice site |
probably benign |
|
IGL00885:Clasp2
|
APN |
9 |
113,911,416 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01314:Clasp2
|
APN |
9 |
113,906,127 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL01344:Clasp2
|
APN |
9 |
113,813,292 (GRCm38) |
splice site |
probably null |
|
IGL01567:Clasp2
|
APN |
9 |
113,880,096 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02238:Clasp2
|
APN |
9 |
113,880,020 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02299:Clasp2
|
APN |
9 |
113,879,989 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02323:Clasp2
|
APN |
9 |
113,868,726 (GRCm38) |
splice site |
probably benign |
|
IGL02635:Clasp2
|
APN |
9 |
113,908,842 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02645:Clasp2
|
APN |
9 |
113,890,061 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03190:Clasp2
|
APN |
9 |
113,844,140 (GRCm38) |
nonsense |
probably null |
|
IGL03219:Clasp2
|
APN |
9 |
113,848,477 (GRCm38) |
splice site |
probably benign |
|
PIT4810001:Clasp2
|
UTSW |
9 |
113,906,067 (GRCm38) |
missense |
probably damaging |
1.00 |
R0067:Clasp2
|
UTSW |
9 |
113,860,141 (GRCm38) |
splice site |
probably benign |
|
R0067:Clasp2
|
UTSW |
9 |
113,860,141 (GRCm38) |
splice site |
probably benign |
|
R0421:Clasp2
|
UTSW |
9 |
113,854,302 (GRCm38) |
missense |
probably benign |
0.02 |
R0432:Clasp2
|
UTSW |
9 |
113,909,419 (GRCm38) |
missense |
probably benign |
0.00 |
R0458:Clasp2
|
UTSW |
9 |
113,906,224 (GRCm38) |
splice site |
probably null |
|
R0865:Clasp2
|
UTSW |
9 |
113,911,500 (GRCm38) |
missense |
possibly damaging |
0.57 |
R0972:Clasp2
|
UTSW |
9 |
113,847,705 (GRCm38) |
missense |
possibly damaging |
0.58 |
R1037:Clasp2
|
UTSW |
9 |
113,896,634 (GRCm38) |
splice site |
probably benign |
|
R1925:Clasp2
|
UTSW |
9 |
113,906,197 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2015:Clasp2
|
UTSW |
9 |
113,911,500 (GRCm38) |
missense |
possibly damaging |
0.57 |
R2066:Clasp2
|
UTSW |
9 |
113,906,157 (GRCm38) |
missense |
possibly damaging |
0.86 |
R2330:Clasp2
|
UTSW |
9 |
113,876,304 (GRCm38) |
missense |
probably damaging |
1.00 |
R2568:Clasp2
|
UTSW |
9 |
113,878,764 (GRCm38) |
missense |
probably benign |
|
R3011:Clasp2
|
UTSW |
9 |
113,901,513 (GRCm38) |
missense |
probably damaging |
1.00 |
R3879:Clasp2
|
UTSW |
9 |
113,889,961 (GRCm38) |
missense |
probably damaging |
0.98 |
R3915:Clasp2
|
UTSW |
9 |
113,908,737 (GRCm38) |
missense |
probably damaging |
0.99 |
R3928:Clasp2
|
UTSW |
9 |
113,906,105 (GRCm38) |
missense |
probably benign |
0.28 |
R4323:Clasp2
|
UTSW |
9 |
113,889,959 (GRCm38) |
missense |
possibly damaging |
0.91 |
R4571:Clasp2
|
UTSW |
9 |
113,847,721 (GRCm38) |
missense |
probably damaging |
1.00 |
R4975:Clasp2
|
UTSW |
9 |
113,903,916 (GRCm38) |
missense |
probably damaging |
1.00 |
R5445:Clasp2
|
UTSW |
9 |
113,903,946 (GRCm38) |
missense |
probably damaging |
1.00 |
R5564:Clasp2
|
UTSW |
9 |
113,812,768 (GRCm38) |
critical splice donor site |
probably null |
|
R5697:Clasp2
|
UTSW |
9 |
113,860,122 (GRCm38) |
missense |
probably benign |
0.01 |
R5780:Clasp2
|
UTSW |
9 |
113,850,152 (GRCm38) |
missense |
probably damaging |
0.99 |
R5787:Clasp2
|
UTSW |
9 |
113,862,242 (GRCm38) |
missense |
probably damaging |
1.00 |
R6011:Clasp2
|
UTSW |
9 |
113,876,247 (GRCm38) |
missense |
probably benign |
0.07 |
R6026:Clasp2
|
UTSW |
9 |
113,911,578 (GRCm38) |
missense |
probably benign |
0.13 |
R6090:Clasp2
|
UTSW |
9 |
113,852,735 (GRCm38) |
missense |
probably benign |
0.06 |
R6262:Clasp2
|
UTSW |
9 |
113,876,352 (GRCm38) |
critical splice donor site |
probably null |
|
R6427:Clasp2
|
UTSW |
9 |
113,892,444 (GRCm38) |
missense |
probably damaging |
1.00 |
R6464:Clasp2
|
UTSW |
9 |
113,773,717 (GRCm38) |
missense |
probably damaging |
1.00 |
R6586:Clasp2
|
UTSW |
9 |
113,813,264 (GRCm38) |
missense |
probably damaging |
1.00 |
R6628:Clasp2
|
UTSW |
9 |
113,896,720 (GRCm38) |
missense |
probably damaging |
1.00 |
R6745:Clasp2
|
UTSW |
9 |
113,875,270 (GRCm38) |
nonsense |
probably null |
|
R7032:Clasp2
|
UTSW |
9 |
113,854,323 (GRCm38) |
missense |
probably benign |
0.04 |
R7165:Clasp2
|
UTSW |
9 |
113,786,399 (GRCm38) |
splice site |
probably null |
|
R7221:Clasp2
|
UTSW |
9 |
113,852,757 (GRCm38) |
missense |
probably damaging |
0.99 |
R7336:Clasp2
|
UTSW |
9 |
113,876,353 (GRCm38) |
splice site |
probably null |
|
R7583:Clasp2
|
UTSW |
9 |
113,908,687 (GRCm38) |
missense |
probably benign |
0.02 |
R7774:Clasp2
|
UTSW |
9 |
113,848,736 (GRCm38) |
splice site |
probably null |
|
R7895:Clasp2
|
UTSW |
9 |
113,903,948 (GRCm38) |
missense |
probably benign |
0.03 |
R8084:Clasp2
|
UTSW |
9 |
113,847,755 (GRCm38) |
missense |
probably benign |
0.16 |
R8109:Clasp2
|
UTSW |
9 |
113,911,520 (GRCm38) |
missense |
probably damaging |
1.00 |
R8171:Clasp2
|
UTSW |
9 |
113,903,906 (GRCm38) |
missense |
possibly damaging |
0.88 |
R8230:Clasp2
|
UTSW |
9 |
113,892,414 (GRCm38) |
missense |
possibly damaging |
0.73 |
R8810:Clasp2
|
UTSW |
9 |
113,899,581 (GRCm38) |
missense |
probably damaging |
1.00 |
R8879:Clasp2
|
UTSW |
9 |
113,773,705 (GRCm38) |
missense |
probably benign |
0.39 |
R8888:Clasp2
|
UTSW |
9 |
113,903,868 (GRCm38) |
missense |
possibly damaging |
0.54 |
R8889:Clasp2
|
UTSW |
9 |
113,880,183 (GRCm38) |
missense |
probably damaging |
1.00 |
R8892:Clasp2
|
UTSW |
9 |
113,880,183 (GRCm38) |
missense |
probably damaging |
1.00 |
R8922:Clasp2
|
UTSW |
9 |
113,896,660 (GRCm38) |
nonsense |
probably null |
|
R9042:Clasp2
|
UTSW |
9 |
113,905,997 (GRCm38) |
missense |
probably benign |
|
R9195:Clasp2
|
UTSW |
9 |
113,841,977 (GRCm38) |
missense |
probably benign |
0.06 |
R9355:Clasp2
|
UTSW |
9 |
113,835,241 (GRCm38) |
missense |
probably damaging |
1.00 |
R9481:Clasp2
|
UTSW |
9 |
113,841,601 (GRCm38) |
missense |
probably damaging |
1.00 |
R9502:Clasp2
|
UTSW |
9 |
113,908,798 (GRCm38) |
missense |
probably benign |
0.01 |
R9523:Clasp2
|
UTSW |
9 |
113,876,304 (GRCm38) |
missense |
probably damaging |
0.98 |
R9525:Clasp2
|
UTSW |
9 |
113,911,609 (GRCm38) |
missense |
probably damaging |
1.00 |
R9653:Clasp2
|
UTSW |
9 |
113,841,925 (GRCm38) |
missense |
probably benign |
0.01 |
R9699:Clasp2
|
UTSW |
9 |
113,909,546 (GRCm38) |
critical splice donor site |
probably null |
|
R9738:Clasp2
|
UTSW |
9 |
113,761,597 (GRCm38) |
nonsense |
probably null |
|
R9775:Clasp2
|
UTSW |
9 |
113,896,672 (GRCm38) |
missense |
probably benign |
|
X0022:Clasp2
|
UTSW |
9 |
113,852,672 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Clasp2
|
UTSW |
9 |
113,770,221 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Clasp2
|
UTSW |
9 |
113,908,795 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |