Incidental Mutation 'R9525:Clasp2'
| ID |
719157 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113740677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1217
(L1217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111838]
[ENSMUST00000163895]
[ENSMUST00000166734]
[ENSMUST00000213663]
[ENSMUST00000214522]
[ENSMUST00000215022]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111838
AA Change: L1217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: L1217P
| 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 damaging
Transcript: ENSMUST00000163895
AA Change: L1238P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: L1238P
| 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 damaging
Transcript: ENSMUST00000166734
AA Change: L1218P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: L1218P
| 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 damaging
Transcript: ENSMUST00000213663
AA Change: L531P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214522
AA Change: L1235P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,282,000 (GRCm39) |
D264V |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,453 (GRCm39) |
G4178E |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,399,288 (GRCm39) |
Y2097H |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,166,339 (GRCm39) |
S369P |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| Camsap1 |
G |
A |
2: 25,843,962 (GRCm39) |
H230Y |
probably benign |
Het |
| Cbx7 |
A |
C |
15: 79,814,797 (GRCm39) |
W35G |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,773,430 (GRCm39) |
Y498H |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,559,222 (GRCm39) |
R126W |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,879 (GRCm39) |
L228Q |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,433,778 (GRCm39) |
I1000N |
probably damaging |
Het |
| Cfhr4 |
G |
T |
1: 139,702,250 (GRCm39) |
T78K |
probably damaging |
Het |
| Chadl |
C |
A |
15: 81,578,220 (GRCm39) |
G470C |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,770,198 (GRCm39) |
V215A |
probably benign |
Het |
| Dbx2 |
G |
T |
15: 95,552,304 (GRCm39) |
H114N |
probably benign |
Het |
| Ddb2 |
T |
G |
2: 91,065,180 (GRCm39) |
T82P |
probably benign |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,344,758 (GRCm39) |
M66K |
probably damaging |
Het |
| Fan1 |
A |
C |
7: 64,022,007 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,583,955 (GRCm39) |
L123Q |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,905,481 (GRCm38) |
V1077E |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,352,703 (GRCm39) |
M251K |
probably damaging |
Het |
| Gal3st2c |
T |
A |
1: 93,935,928 (GRCm39) |
F93L |
probably damaging |
Het |
| Gdf2 |
T |
C |
14: 33,667,564 (GRCm39) |
*429Q |
probably null |
Het |
| Gdpd5 |
A |
G |
7: 99,104,156 (GRCm39) |
T455A |
possibly damaging |
Het |
| Gm8356 |
G |
T |
14: 17,691,339 (GRCm39) |
Q109K |
|
Het |
| Gpr20 |
A |
T |
15: 73,567,681 (GRCm39) |
V236E |
probably benign |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,472 (GRCm39) |
N613D |
probably damaging |
Het |
| H2bc15 |
G |
T |
13: 21,938,305 (GRCm39) |
A5S |
unknown |
Het |
| Hepacam2 |
A |
G |
6: 3,476,046 (GRCm39) |
V293A |
probably benign |
Het |
| Igf1r |
G |
A |
7: 67,864,682 (GRCm39) |
R1160Q |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,217 (GRCm39) |
Y12H |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,658,711 (GRCm39) |
S393G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,128,929 (GRCm39) |
M507V |
probably null |
Het |
| Mast4 |
G |
T |
13: 102,872,944 (GRCm39) |
H2141Q |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,587,486 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrm3 |
A |
G |
11: 76,141,104 (GRCm39) |
T371A |
possibly damaging |
Het |
| Msantd5f3 |
G |
A |
4: 73,573,061 (GRCm39) |
S100N |
probably benign |
Het |
| Mylk2 |
T |
A |
2: 152,759,552 (GRCm39) |
M414K |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,748 (GRCm39) |
E317G |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,310,142 (GRCm39) |
I105N |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,820 (GRCm39) |
I272M |
possibly damaging |
Het |
| Or8k20 |
A |
G |
2: 86,106,484 (GRCm39) |
S116P |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,887 (GRCm39) |
V739E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,448,322 (GRCm39) |
T3834S |
possibly damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,310 (GRCm39) |
D546G |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,745,916 (GRCm39) |
M595K |
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,438,764 (GRCm39) |
I27T |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,676,402 (GRCm39) |
I117V |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,247,375 (GRCm39) |
L454H |
probably damaging |
Het |
| Rps6kb1 |
C |
A |
11: 86,410,746 (GRCm39) |
K167N |
possibly damaging |
Het |
| Saxo1 |
A |
T |
4: 86,363,186 (GRCm39) |
Y432* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,646,841 (GRCm39) |
V558E |
probably benign |
Het |
| Spmap2l |
A |
G |
5: 77,195,138 (GRCm39) |
N104S |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,456,966 (GRCm39) |
F627L |
probably damaging |
Het |
| Tbpl2 |
T |
G |
2: 23,986,547 (GRCm39) |
M1L |
probably benign |
Het |
| Timp2 |
A |
C |
11: 118,194,678 (GRCm39) |
D170E |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,436,812 (GRCm39) |
Y303H |
probably damaging |
Het |
| Trgv5 |
T |
C |
13: 19,376,885 (GRCm39) |
C111R |
probably damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Vmn1r159 |
A |
G |
7: 22,542,417 (GRCm39) |
V205A |
probably damaging |
Het |
| Vmn2r25 |
G |
T |
6: 123,800,164 (GRCm39) |
T726K |
probably damaging |
Het |
| Wwox |
T |
A |
8: 115,433,105 (GRCm39) |
V257E |
probably benign |
Het |
| Xxylt1 |
A |
G |
16: 30,869,593 (GRCm39) |
I169T |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,824,846 (GRCm39) |
N201K |
|
Het |
| Zfp457 |
T |
C |
13: 67,441,492 (GRCm39) |
Y361C |
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 |
|
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 |
|
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'- AGGAAGCTGCCTCCGTATTG -3'
(R):5'- AGCAGAACCCAGACATTTAATGATG -3'
Sequencing Primer
(F):5'- GGCTACTTCCATTAGTCCAGAGCAG -3'
(R):5'- CTGACCATCGACATTAGTGATGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation