Incidental Mutation 'R0421:Clasp2'
ID |
37074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clasp2
|
Ensembl Gene |
ENSMUSG00000033392 |
Gene Name |
CLIP associating protein 2 |
Synonyms |
CLASP2alpha, 1500004F14Rik, CLASP2gamma, CLASP2, CLASP2beta, 8030404L10Rik |
MMRRC Submission |
038623-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0421 (G1)
|
Quality Score |
185 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 113683370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 400
(R400H)
|
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 |
probably benign
Transcript: ENSMUST00000111838
AA Change: R400H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: R400H
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 benign
Transcript: ENSMUST00000163895
AA Change: R400H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: R400H
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 benign
Transcript: ENSMUST00000166734
AA Change: R400H
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: R400H
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 benign
Transcript: ENSMUST00000214522
AA Change: R400H
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214860
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Meta Mutation Damage Score |
0.1288 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (67/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
G |
A |
2: 22,850,839 (GRCm39) |
T195I |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,884,945 (GRCm39) |
N180S |
probably damaging |
Het |
Arsg |
A |
G |
11: 109,418,592 (GRCm39) |
Y196C |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atp2b2 |
C |
A |
6: 113,790,849 (GRCm39) |
R185L |
probably damaging |
Het |
Ccr9 |
A |
T |
9: 123,608,671 (GRCm39) |
M118L |
probably benign |
Het |
Cdh12 |
A |
T |
15: 21,480,310 (GRCm39) |
|
probably null |
Het |
Cdk13 |
T |
C |
13: 17,937,755 (GRCm39) |
S763G |
probably damaging |
Het |
Cenpk |
C |
A |
13: 104,378,911 (GRCm39) |
N177K |
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,824,014 (GRCm39) |
N119T |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,898,415 (GRCm39) |
E101G |
probably null |
Het |
Col6a6 |
T |
C |
9: 105,661,405 (GRCm39) |
M235V |
probably benign |
Het |
Ddx49 |
A |
T |
8: 70,748,282 (GRCm39) |
L291Q |
probably damaging |
Het |
Dhrs7 |
A |
T |
12: 72,699,860 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,229,687 (GRCm39) |
K107M |
possibly damaging |
Het |
Dsg2 |
C |
T |
18: 20,712,448 (GRCm39) |
R151C |
probably damaging |
Het |
Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
Edem3 |
A |
G |
1: 151,668,189 (GRCm39) |
|
probably benign |
Het |
Eif3c |
T |
C |
7: 126,162,884 (GRCm39) |
N133S |
possibly damaging |
Het |
F10 |
A |
G |
8: 13,095,097 (GRCm39) |
K85E |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,160,876 (GRCm39) |
|
probably benign |
Het |
Gtpbp10 |
A |
T |
5: 5,607,290 (GRCm39) |
H50Q |
probably benign |
Het |
Hephl1 |
A |
G |
9: 14,970,456 (GRCm39) |
F1013L |
probably benign |
Het |
Hps3 |
C |
A |
3: 20,083,480 (GRCm39) |
V238F |
probably benign |
Het |
Kcna10 |
A |
C |
3: 107,101,820 (GRCm39) |
K150N |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,990,914 (GRCm39) |
G636D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,488,912 (GRCm39) |
R189H |
probably damaging |
Het |
Knop1 |
C |
T |
7: 118,454,852 (GRCm39) |
E50K |
possibly damaging |
Het |
Kplce |
T |
C |
3: 92,776,291 (GRCm39) |
T131A |
probably damaging |
Het |
Kpna7 |
T |
A |
5: 144,926,551 (GRCm39) |
H467L |
possibly damaging |
Het |
Lcn4 |
T |
C |
2: 26,558,661 (GRCm39) |
N142D |
possibly damaging |
Het |
Map3k3 |
T |
C |
11: 106,039,741 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,684,707 (GRCm39) |
T806A |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,307,598 (GRCm39) |
N1703K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,799,360 (GRCm39) |
V914A |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,584,833 (GRCm39) |
|
probably benign |
Het |
Nop56 |
T |
C |
2: 130,118,692 (GRCm39) |
S275P |
possibly damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,653 (GRCm39) |
E25G |
possibly damaging |
Het |
Or52ac1 |
A |
G |
7: 104,245,929 (GRCm39) |
V153A |
probably benign |
Het |
Or7e174 |
A |
G |
9: 20,012,771 (GRCm39) |
K239E |
probably damaging |
Het |
Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,675,650 (GRCm39) |
I1032N |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,402 (GRCm39) |
E319G |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,533 (GRCm39) |
S288T |
probably benign |
Het |
Phip |
A |
T |
9: 82,808,510 (GRCm39) |
D488E |
probably damaging |
Het |
Pla2g7 |
A |
T |
17: 43,922,303 (GRCm39) |
H394L |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,990,641 (GRCm39) |
V69A |
probably damaging |
Het |
Prob1 |
C |
A |
18: 35,786,083 (GRCm39) |
A724S |
possibly damaging |
Het |
Prune2 |
T |
C |
19: 17,100,675 (GRCm39) |
F2060L |
probably benign |
Het |
Rgl3 |
G |
A |
9: 21,887,328 (GRCm39) |
R498C |
probably benign |
Het |
Rnf213 |
A |
C |
11: 119,338,083 (GRCm39) |
N3362H |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,282,774 (GRCm39) |
|
probably benign |
Het |
Scn9a |
T |
C |
2: 66,373,621 (GRCm39) |
S453G |
probably benign |
Het |
Sh3rf3 |
T |
C |
10: 58,819,897 (GRCm39) |
L236P |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,876,211 (GRCm39) |
N44S |
possibly damaging |
Het |
Slc5a1 |
T |
A |
5: 33,291,996 (GRCm39) |
I141N |
probably damaging |
Het |
Tlcd3b |
G |
A |
7: 126,424,187 (GRCm39) |
V44M |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,907 (GRCm39) |
I2548N |
probably damaging |
Het |
Tsc22d2 |
G |
A |
3: 58,324,749 (GRCm39) |
|
probably benign |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,207,294 (GRCm39) |
I9L |
probably benign |
Het |
Vmn2r58 |
T |
G |
7: 41,514,628 (GRCm39) |
N114H |
probably benign |
Het |
Vps53 |
A |
G |
11: 75,973,496 (GRCm39) |
L166P |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,248 (GRCm39) |
K532* |
probably null |
Het |
Zfp472 |
A |
G |
17: 33,194,897 (GRCm39) |
T11A |
possibly damaging |
Het |
Zfp512b |
T |
A |
2: 181,230,051 (GRCm39) |
K87* |
probably null |
Het |
Zfp518b |
G |
A |
5: 38,831,918 (GRCm39) |
P29L |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,843 (GRCm39) |
|
probably benign |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Clasp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Clasp2
|
APN |
9 |
113,735,060 (GRCm39) |
splice site |
probably benign |
|
IGL00885:Clasp2
|
APN |
9 |
113,740,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01314:Clasp2
|
APN |
9 |
113,735,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01344:Clasp2
|
APN |
9 |
113,642,360 (GRCm39) |
splice site |
probably null |
|
IGL01567:Clasp2
|
APN |
9 |
113,709,164 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02238:Clasp2
|
APN |
9 |
113,709,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02299:Clasp2
|
APN |
9 |
113,709,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02323:Clasp2
|
APN |
9 |
113,697,794 (GRCm39) |
splice site |
probably benign |
|
IGL02635:Clasp2
|
APN |
9 |
113,737,910 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02645:Clasp2
|
APN |
9 |
113,719,129 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Clasp2
|
APN |
9 |
113,735,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03190:Clasp2
|
APN |
9 |
113,673,208 (GRCm39) |
nonsense |
probably null |
|
IGL03219:Clasp2
|
APN |
9 |
113,677,545 (GRCm39) |
splice site |
probably benign |
|
PIT4810001:Clasp2
|
UTSW |
9 |
113,735,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Clasp2
|
UTSW |
9 |
113,689,209 (GRCm39) |
splice site |
probably benign |
|
R0067:Clasp2
|
UTSW |
9 |
113,689,209 (GRCm39) |
splice site |
probably benign |
|
R0432:Clasp2
|
UTSW |
9 |
113,738,487 (GRCm39) |
missense |
probably benign |
0.00 |
R0458:Clasp2
|
UTSW |
9 |
113,735,292 (GRCm39) |
splice site |
probably null |
|
R0865:Clasp2
|
UTSW |
9 |
113,740,568 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0972:Clasp2
|
UTSW |
9 |
113,676,773 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1037:Clasp2
|
UTSW |
9 |
113,725,702 (GRCm39) |
splice site |
probably benign |
|
R1925:Clasp2
|
UTSW |
9 |
113,735,265 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2015:Clasp2
|
UTSW |
9 |
113,740,568 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2066:Clasp2
|
UTSW |
9 |
113,735,225 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2330:Clasp2
|
UTSW |
9 |
113,705,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R2568:Clasp2
|
UTSW |
9 |
113,707,832 (GRCm39) |
missense |
probably benign |
|
R3011:Clasp2
|
UTSW |
9 |
113,730,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R3879:Clasp2
|
UTSW |
9 |
113,719,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R3915:Clasp2
|
UTSW |
9 |
113,737,805 (GRCm39) |
missense |
probably damaging |
0.99 |
R3928:Clasp2
|
UTSW |
9 |
113,735,173 (GRCm39) |
missense |
probably benign |
0.28 |
R4323:Clasp2
|
UTSW |
9 |
113,719,027 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4571:Clasp2
|
UTSW |
9 |
113,676,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4975:Clasp2
|
UTSW |
9 |
113,732,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R5445:Clasp2
|
UTSW |
9 |
113,733,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R5564:Clasp2
|
UTSW |
9 |
113,641,836 (GRCm39) |
critical splice donor site |
probably null |
|
R5697:Clasp2
|
UTSW |
9 |
113,689,190 (GRCm39) |
missense |
probably benign |
0.01 |
R5780:Clasp2
|
UTSW |
9 |
113,679,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R5787:Clasp2
|
UTSW |
9 |
113,691,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Clasp2
|
UTSW |
9 |
113,705,315 (GRCm39) |
missense |
probably benign |
0.07 |
R6026:Clasp2
|
UTSW |
9 |
113,740,646 (GRCm39) |
missense |
probably benign |
0.13 |
R6090:Clasp2
|
UTSW |
9 |
113,681,803 (GRCm39) |
missense |
probably benign |
0.06 |
R6262:Clasp2
|
UTSW |
9 |
113,705,420 (GRCm39) |
critical splice donor site |
probably null |
|
R6427:Clasp2
|
UTSW |
9 |
113,721,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R6464:Clasp2
|
UTSW |
9 |
113,602,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R6586:Clasp2
|
UTSW |
9 |
113,642,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6628:Clasp2
|
UTSW |
9 |
113,725,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R6745:Clasp2
|
UTSW |
9 |
113,704,338 (GRCm39) |
nonsense |
probably null |
|
R7032:Clasp2
|
UTSW |
9 |
113,683,391 (GRCm39) |
missense |
probably benign |
0.04 |
R7165:Clasp2
|
UTSW |
9 |
113,615,467 (GRCm39) |
splice site |
probably null |
|
R7221:Clasp2
|
UTSW |
9 |
113,681,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:Clasp2
|
UTSW |
9 |
113,705,421 (GRCm39) |
splice site |
probably null |
|
R7583:Clasp2
|
UTSW |
9 |
113,737,755 (GRCm39) |
missense |
probably benign |
0.02 |
R7774:Clasp2
|
UTSW |
9 |
113,677,804 (GRCm39) |
splice site |
probably null |
|
R7895:Clasp2
|
UTSW |
9 |
113,733,016 (GRCm39) |
missense |
probably benign |
0.03 |
R8084:Clasp2
|
UTSW |
9 |
113,676,823 (GRCm39) |
missense |
probably benign |
0.16 |
R8109:Clasp2
|
UTSW |
9 |
113,740,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Clasp2
|
UTSW |
9 |
113,732,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8230:Clasp2
|
UTSW |
9 |
113,721,482 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8810:Clasp2
|
UTSW |
9 |
113,728,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R8879:Clasp2
|
UTSW |
9 |
113,602,773 (GRCm39) |
missense |
probably benign |
0.39 |
R8888:Clasp2
|
UTSW |
9 |
113,732,936 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8889:Clasp2
|
UTSW |
9 |
113,709,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Clasp2
|
UTSW |
9 |
113,709,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8922:Clasp2
|
UTSW |
9 |
113,725,728 (GRCm39) |
nonsense |
probably null |
|
R9042:Clasp2
|
UTSW |
9 |
113,735,065 (GRCm39) |
missense |
probably benign |
|
R9195:Clasp2
|
UTSW |
9 |
113,671,045 (GRCm39) |
missense |
probably benign |
0.06 |
R9355:Clasp2
|
UTSW |
9 |
113,664,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R9481:Clasp2
|
UTSW |
9 |
113,670,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Clasp2
|
UTSW |
9 |
113,737,866 (GRCm39) |
missense |
probably benign |
0.01 |
R9523:Clasp2
|
UTSW |
9 |
113,705,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R9525:Clasp2
|
UTSW |
9 |
113,740,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Clasp2
|
UTSW |
9 |
113,670,993 (GRCm39) |
missense |
probably benign |
0.01 |
R9699:Clasp2
|
UTSW |
9 |
113,738,614 (GRCm39) |
critical splice donor site |
probably null |
|
R9738:Clasp2
|
UTSW |
9 |
113,590,665 (GRCm39) |
nonsense |
probably null |
|
R9775:Clasp2
|
UTSW |
9 |
113,725,740 (GRCm39) |
missense |
probably benign |
|
X0022:Clasp2
|
UTSW |
9 |
113,681,740 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clasp2
|
UTSW |
9 |
113,599,289 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clasp2
|
UTSW |
9 |
113,737,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGTTGCCACAGATGACGAG -3'
(R):5'- GTTGTTTACAAAACCCGTGCCTTCC -3'
Sequencing Primer
(F):5'- TGCCACAGATGACGAGTTTATG -3'
(R):5'- AGTAACCCCCCATAGGTGTG -3'
|
Posted On |
2013-05-09 |