Incidental Mutation 'R6262:Clasp2'
| ID |
506768 |
| 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 |
045016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6262 (G1)
|
| Quality Score |
225.009 |
|
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 A
at 113705420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 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: 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 |
probably null
Transcript: ENSMUST00000214522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
| Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
| Atp5f1a |
G |
A |
18: 77,868,912 (GRCm39) |
V429M |
probably damaging |
Het |
| Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
| Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,133,680 (GRCm39) |
K451E |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,810,203 (GRCm39) |
M570L |
probably benign |
Het |
| Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
| Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
| Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,494,151 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,732,013 (GRCm39) |
H614L |
possibly damaging |
Het |
| Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
| Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
| Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
| Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
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 |
|
|
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 |
|
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 |
|
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'- CCCTTGCATTATTACAGTTGTGAC -3'
(R):5'- TTTGCCATACAGTCAGTACACTAC -3'
Sequencing Primer
(F):5'- GTGACTGTCTAAAAGTTGTTCTCC -3'
(R):5'- ACCTAGTTAAGATTACTGGAACTGAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation