Incidental Mutation 'R0458:Clasp2'
ID |
41317 |
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 |
038658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0458 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 113735292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150145
(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: D1042E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: D1042E
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: D1063E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: D1063E
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: D1043E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: D1043E
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 null
Transcript: ENSMUST00000213663
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214522
AA Change: D1060E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
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 |
4933407L21Rik |
A |
G |
1: 85,856,747 (GRCm39) |
E8G |
unknown |
Het |
9130008F23Rik |
T |
C |
17: 41,191,127 (GRCm39) |
T101A |
probably benign |
Het |
Abcb8 |
C |
T |
5: 24,611,231 (GRCm39) |
T455I |
probably benign |
Het |
Abcb9 |
C |
A |
5: 124,220,209 (GRCm39) |
|
probably null |
Het |
Akp3 |
T |
G |
1: 87,054,259 (GRCm39) |
Y265* |
probably null |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,390 (GRCm39) |
D109V |
probably damaging |
Het |
Aurka |
C |
A |
2: 172,212,366 (GRCm39) |
E4* |
probably null |
Het |
Cacna1g |
T |
A |
11: 94,300,266 (GRCm39) |
Q2168L |
probably damaging |
Het |
Cdc45 |
T |
A |
16: 18,600,722 (GRCm39) |
|
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,850,837 (GRCm39) |
V325A |
probably benign |
Het |
Crim1 |
T |
A |
17: 78,620,655 (GRCm39) |
I365N |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,001,610 (GRCm39) |
N269S |
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,147,633 (GRCm39) |
V399A |
possibly damaging |
Het |
Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
Eef2k |
T |
C |
7: 120,502,513 (GRCm39) |
Y692H |
probably damaging |
Het |
Elavl2 |
A |
T |
4: 91,197,104 (GRCm39) |
|
probably benign |
Het |
Epn2 |
C |
A |
11: 61,437,281 (GRCm39) |
R97L |
possibly damaging |
Het |
Fam243 |
T |
C |
16: 92,117,995 (GRCm39) |
I98V |
probably benign |
Het |
Fzd6 |
G |
A |
15: 38,894,676 (GRCm39) |
A281T |
probably damaging |
Het |
Garem2 |
T |
A |
5: 30,319,180 (GRCm39) |
I214N |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,887,238 (GRCm39) |
|
probably benign |
Het |
Golm1 |
T |
C |
13: 59,812,178 (GRCm39) |
E48G |
probably damaging |
Het |
Gpaa1 |
G |
T |
15: 76,216,233 (GRCm39) |
R12L |
probably benign |
Het |
Gstm1 |
T |
A |
3: 107,924,679 (GRCm39) |
T34S |
probably benign |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,383,663 (GRCm39) |
Q3709L |
probably benign |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Icam1 |
A |
G |
9: 20,939,157 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,510,096 (GRCm39) |
|
probably null |
Het |
Kif15 |
T |
C |
9: 122,838,424 (GRCm39) |
F1121L |
probably benign |
Het |
Klhl30 |
T |
A |
1: 91,288,718 (GRCm39) |
|
probably benign |
Het |
Ldlrad1 |
T |
C |
4: 107,073,387 (GRCm39) |
C141R |
probably damaging |
Het |
Lemd2 |
T |
C |
17: 27,409,627 (GRCm39) |
D508G |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,241,218 (GRCm39) |
T52P |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,229 (GRCm39) |
P301S |
probably damaging |
Het |
Mcoln2 |
A |
G |
3: 145,855,768 (GRCm39) |
|
probably benign |
Het |
Mkrn2os |
A |
G |
6: 115,563,631 (GRCm39) |
S135P |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,162,224 (GRCm39) |
V607A |
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,171,173 (GRCm39) |
Y213C |
probably benign |
Het |
Mpo |
C |
A |
11: 87,687,123 (GRCm39) |
A223E |
probably benign |
Het |
Mthfd2l |
C |
G |
5: 91,168,036 (GRCm39) |
I310M |
probably damaging |
Het |
Muc5b |
C |
A |
7: 141,418,709 (GRCm39) |
A3885D |
probably benign |
Het |
Mvp |
A |
G |
7: 126,597,663 (GRCm39) |
W152R |
probably damaging |
Het |
Nmur2 |
A |
T |
11: 55,931,394 (GRCm39) |
F106I |
possibly damaging |
Het |
Nr3c2 |
T |
A |
8: 77,636,167 (GRCm39) |
F423I |
probably damaging |
Het |
Or1l8 |
A |
G |
2: 36,817,349 (GRCm39) |
V259A |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,600 (GRCm39) |
S139G |
probably benign |
Het |
Or8c16 |
G |
A |
9: 38,130,344 (GRCm39) |
C75Y |
probably damaging |
Het |
Or9q1 |
G |
T |
19: 13,805,593 (GRCm39) |
H56N |
probably benign |
Het |
Pappa |
A |
G |
4: 65,074,119 (GRCm39) |
I224M |
probably damaging |
Het |
Prex1 |
A |
C |
2: 166,427,743 (GRCm39) |
S800A |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,721,911 (GRCm39) |
|
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,986 (GRCm39) |
V662E |
possibly damaging |
Het |
Rabep1 |
T |
A |
11: 70,777,824 (GRCm39) |
|
probably null |
Het |
Rbms2 |
C |
T |
10: 127,987,058 (GRCm39) |
C50Y |
probably damaging |
Het |
Rd3 |
C |
T |
1: 191,709,414 (GRCm39) |
P25S |
probably damaging |
Het |
Rnf148 |
T |
G |
6: 23,654,256 (GRCm39) |
I247L |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,538,768 (GRCm39) |
|
probably benign |
Het |
Slc35c1 |
A |
T |
2: 92,284,858 (GRCm39) |
F252Y |
probably damaging |
Het |
Slc38a11 |
T |
C |
2: 65,193,813 (GRCm39) |
|
probably null |
Het |
Snx6 |
G |
T |
12: 54,814,921 (GRCm39) |
Y17* |
probably null |
Het |
Sox6 |
C |
A |
7: 115,089,029 (GRCm39) |
R611L |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,929,492 (GRCm39) |
R350H |
probably damaging |
Het |
Sppl2a |
G |
T |
2: 126,746,879 (GRCm39) |
A483D |
probably damaging |
Het |
Stat1 |
C |
T |
1: 52,188,211 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
T |
10: 7,795,319 (GRCm39) |
Y314N |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,906,153 (GRCm39) |
N213S |
probably damaging |
Het |
Trim39 |
T |
C |
17: 36,572,404 (GRCm39) |
K300E |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,983,137 (GRCm39) |
S306P |
probably damaging |
Het |
Ufm1 |
A |
G |
3: 53,768,655 (GRCm39) |
L33P |
probably damaging |
Het |
Washc4 |
G |
A |
10: 83,382,663 (GRCm39) |
V26I |
possibly damaging |
Het |
Wfs1 |
A |
G |
5: 37,126,013 (GRCm39) |
Y293H |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,214 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp667 |
T |
C |
7: 6,307,844 (GRCm39) |
S171P |
probably benign |
Het |
Zkscan5 |
T |
A |
5: 145,142,281 (GRCm39) |
H59Q |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,768,965 (GRCm39) |
R1128W |
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 |
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'- AGCAGGAGGTGATGCTGCTGAC -3'
(R):5'- TCCTTTTCCAGAGGCGACAAGAAC -3'
Sequencing Primer
(F):5'- ATCGTTGCTCCACTCAATGC -3'
(R):5'- gctgcctcctgctctctac -3'
|
Posted On |
2013-05-23 |