Incidental Mutation 'R5564:Clasp2'
ID |
436750 |
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 |
043121-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 113641836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111838]
[ENSMUST00000163895]
[ENSMUST00000163895]
[ENSMUST00000166734]
[ENSMUST00000166734]
[ENSMUST00000213663]
[ENSMUST00000215022]
[ENSMUST00000214522]
[ENSMUST00000216817]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000111838
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392
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 null
Transcript: ENSMUST00000163895
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392
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 null
Transcript: ENSMUST00000163895
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392
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 null
Transcript: ENSMUST00000166734
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392
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: ENSMUST00000166734
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392
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 |
noncoding transcript
Transcript: ENSMUST00000213902
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213966
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Predicted Effect |
probably null
Transcript: ENSMUST00000214522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214860
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216817
|
Meta Mutation Damage Score |
0.9477 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (57/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
Fam193a |
T |
A |
5: 34,578,199 (GRCm39) |
V231D |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 102,691,029 (GRCm39) |
G325S |
probably benign |
Het |
Gpatch8 |
T |
A |
11: 102,429,111 (GRCm39) |
E39D |
unknown |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
Scmh1 |
C |
A |
4: 120,325,575 (GRCm39) |
N97K |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
possibly 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 |
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 |
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'- TCACCTTGCAGCTGATTGG -3'
(R):5'- GGCATATTGTCACATTTCCCAC -3'
Sequencing Primer
(F):5'- TGTTGCAGCACCTAGGGCAG -3'
(R):5'- TTGTCACATTTCCCACATACAGAG -3'
|
Posted On |
2016-10-24 |