Incidental Mutation 'R2066:Clasp2'
ID |
226691 |
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 |
040071-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113735225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1021
(I1021N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130201
(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: I1020N
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: I1020N
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: I1041N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: I1041N
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 |
possibly damaging
Transcript: ENSMUST00000166734
AA Change: I1021N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: I1021N
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 |
possibly damaging
Transcript: ENSMUST00000214522
AA Change: I1038N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Meta Mutation Damage Score |
0.0874 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
Acadl |
C |
T |
1: 66,880,905 (GRCm39) |
|
probably null |
Het |
Acss1 |
G |
A |
2: 150,510,051 (GRCm39) |
Q23* |
probably null |
Het |
Afap1l1 |
A |
T |
18: 61,872,193 (GRCm39) |
|
probably null |
Het |
Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
Ano5 |
T |
G |
7: 51,235,134 (GRCm39) |
L639R |
probably damaging |
Het |
Arhgap26 |
T |
C |
18: 39,439,781 (GRCm39) |
S71P |
probably damaging |
Het |
B3gnt2 |
A |
G |
11: 22,786,735 (GRCm39) |
L151P |
probably damaging |
Het |
Bach1 |
A |
T |
16: 87,526,513 (GRCm39) |
K658N |
probably damaging |
Het |
Bdnf |
C |
A |
2: 109,554,247 (GRCm39) |
T207K |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,962,499 (GRCm39) |
T2746K |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,847,665 (GRCm39) |
S652P |
probably benign |
Het |
Ccnt1 |
A |
T |
15: 98,449,823 (GRCm39) |
H156Q |
probably benign |
Het |
Cnep1r1 |
G |
T |
8: 88,845,445 (GRCm39) |
|
probably benign |
Het |
Cntn6 |
C |
T |
6: 104,838,783 (GRCm39) |
R946* |
probably null |
Het |
Dnaaf3 |
T |
C |
7: 4,526,798 (GRCm39) |
I426M |
possibly damaging |
Het |
Dnajc13 |
A |
T |
9: 104,098,640 (GRCm39) |
I471N |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,450,130 (GRCm39) |
N149S |
probably benign |
Het |
Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,727,498 (GRCm39) |
S374P |
probably damaging |
Het |
Fry |
T |
A |
5: 150,293,584 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
Gm2959 |
A |
G |
14: 42,235,658 (GRCm39) |
|
noncoding transcript |
Het |
Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,349,602 (GRCm39) |
|
probably benign |
Het |
Hunk |
G |
A |
16: 90,278,133 (GRCm39) |
|
probably null |
Het |
Ifnb1 |
T |
A |
4: 88,440,996 (GRCm39) |
I6F |
possibly damaging |
Het |
Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,753,251 (GRCm39) |
V720A |
probably benign |
Het |
Invs |
T |
A |
4: 48,396,287 (GRCm39) |
L320Q |
probably damaging |
Het |
Jpt2 |
G |
A |
17: 25,167,713 (GRCm39) |
Q79* |
probably null |
Het |
Lingo2 |
A |
G |
4: 35,709,179 (GRCm39) |
L267P |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,392,403 (GRCm39) |
T490A |
probably damaging |
Het |
Meiob |
G |
T |
17: 25,037,290 (GRCm39) |
R56L |
probably damaging |
Het |
Mindy3 |
A |
T |
2: 12,424,060 (GRCm39) |
S2T |
probably damaging |
Het |
Mrm3 |
A |
T |
11: 76,141,147 (GRCm39) |
D385V |
probably damaging |
Het |
Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,875,567 (GRCm39) |
V1701A |
probably damaging |
Het |
Nipal4 |
T |
G |
11: 46,047,622 (GRCm39) |
D104A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,037,442 (GRCm39) |
V284A |
probably damaging |
Het |
Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 59,026,558 (GRCm39) |
A215V |
possibly damaging |
Het |
Or4c113 |
A |
G |
2: 88,885,243 (GRCm39) |
Y176H |
probably damaging |
Het |
Or8b12i |
G |
T |
9: 20,082,850 (GRCm39) |
Q6K |
probably benign |
Het |
Or8g24 |
T |
C |
9: 38,989,510 (GRCm39) |
Y177C |
probably damaging |
Het |
Pgs1 |
G |
A |
11: 117,905,396 (GRCm39) |
|
probably benign |
Het |
Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,591,121 (GRCm39) |
L970Q |
probably damaging |
Het |
Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
Ppip5k1 |
A |
G |
2: 121,173,352 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,098,042 (GRCm39) |
D1182G |
possibly damaging |
Het |
Psg25 |
G |
A |
7: 18,263,487 (GRCm39) |
T112I |
probably damaging |
Het |
Sec61g |
T |
C |
11: 16,458,124 (GRCm39) |
T24A |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,353,472 (GRCm39) |
|
probably null |
Het |
Sox2 |
C |
A |
3: 34,705,456 (GRCm39) |
Q298K |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,167,737 (GRCm39) |
|
probably null |
Het |
Szt2 |
T |
C |
4: 118,231,177 (GRCm39) |
M2529V |
unknown |
Het |
Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
Tpp2 |
T |
G |
1: 44,017,598 (GRCm39) |
I734S |
possibly damaging |
Het |
Troap |
T |
C |
15: 98,980,344 (GRCm39) |
L508P |
probably benign |
Het |
Ttc28 |
C |
A |
5: 111,373,799 (GRCm39) |
F1078L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
Vmn1r55 |
A |
G |
7: 5,150,048 (GRCm39) |
V125A |
possibly damaging |
Het |
Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
Zdhhc13 |
T |
A |
7: 48,466,175 (GRCm39) |
V284D |
probably benign |
Het |
Zfp668 |
C |
A |
7: 127,466,203 (GRCm39) |
R327L |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
probably damaging |
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 |
|
R0421:Clasp2
|
UTSW |
9 |
113,683,370 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- AGAAATTAGCTAACTTGCTCTGCC -3'
(R):5'- CACTCTGTCTCAGGAACAAGTG -3'
Sequencing Primer
(F):5'- CCTTCCTCTTCCTGTTAACAGATATG -3'
(R):5'- TCTGTCTCAGGAACAAGTGACAGTC -3'
|
Posted On |
2014-09-17 |