Incidental Mutation 'R9481:Clasp2'
| ID |
716257 |
| 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 # |
R9481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113670669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 329
(R329W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111838]
[ENSMUST00000163895]
[ENSMUST00000166734]
[ENSMUST00000213663]
[ENSMUST00000214522]
[ENSMUST00000215022]
[ENSMUST00000216817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111838
AA Change: R102W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: R102W
| 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: R102W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: R102W
| 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: R102W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: R102W
| 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 |
possibly damaging
Transcript: ENSMUST00000213663
AA Change: R329W
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214522
AA Change: R102W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216817
AA Change: R329W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,388 (GRCm39) |
C215* |
probably null |
Het |
| Ambn |
G |
T |
5: 88,613,050 (GRCm39) |
|
probably null |
Het |
| Apol9b |
G |
T |
15: 77,619,656 (GRCm39) |
V151L |
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,369,007 (GRCm39) |
Y1070C |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,092 (GRCm39) |
L322P |
possibly damaging |
Het |
| Bdnf |
A |
G |
2: 109,553,935 (GRCm39) |
D103G |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,016,761 (GRCm39) |
D42E |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,963,676 (GRCm39) |
T419A |
|
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,470,459 (GRCm39) |
C2495R |
|
Het |
| Cyba |
A |
T |
8: 123,154,394 (GRCm39) |
I43N |
possibly damaging |
Het |
| Cyp2a5 |
A |
C |
7: 26,540,511 (GRCm39) |
T375P |
possibly damaging |
Het |
| Cyp2r1 |
A |
G |
7: 114,152,369 (GRCm39) |
F196S |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,308,887 (GRCm39) |
F130S |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,163,432 (GRCm39) |
S29G |
probably benign |
Het |
| Hadhb |
T |
G |
5: 30,368,711 (GRCm39) |
S13A |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,948,877 (GRCm39) |
Y743C |
probably damaging |
Het |
| Il15ra |
T |
C |
2: 11,724,854 (GRCm39) |
V108A |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,152,753 (GRCm39) |
N223S |
probably benign |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,756,281 (GRCm39) |
C268R |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,120,249 (GRCm39) |
L264M |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,857,653 (GRCm39) |
E2481K |
possibly damaging |
Het |
| Megf10 |
T |
A |
18: 57,395,090 (GRCm39) |
I484N |
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,857 (GRCm39) |
I130V |
probably benign |
Het |
| Nmnat2 |
C |
A |
1: 152,962,181 (GRCm39) |
N140K |
possibly damaging |
Het |
| Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
| Or2t1 |
C |
T |
14: 14,328,756 (GRCm38) |
S215L |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,576 (GRCm39) |
F31I |
probably benign |
Het |
| Or8b38 |
G |
T |
9: 37,972,707 (GRCm39) |
L30F |
probably benign |
Het |
| Or8g26 |
T |
C |
9: 39,096,172 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pafah1b2 |
G |
A |
9: 45,884,284 (GRCm39) |
Q123* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,701,033 (GRCm39) |
D1843E |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,809,372 (GRCm39) |
R427S |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,436,795 (GRCm39) |
L106I |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Spef1 |
A |
T |
2: 131,014,625 (GRCm39) |
V99E |
probably damaging |
Het |
| Srpra |
C |
T |
9: 35,126,015 (GRCm39) |
T431I |
probably damaging |
Het |
| Stk32c |
G |
A |
7: 138,768,173 (GRCm39) |
P36L |
unknown |
Het |
| Taar7d |
T |
C |
10: 23,903,739 (GRCm39) |
I207T |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,044,504 (GRCm39) |
T501I |
probably damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,070,726 (GRCm39) |
V771L |
probably benign |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,911 (GRCm39) |
M238K |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,793,621 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
G |
T |
7: 43,112,795 (GRCm39) |
E18* |
probably null |
Het |
| Wdfy3 |
A |
G |
5: 102,000,478 (GRCm39) |
L2964P |
probably benign |
Het |
| Zfp334 |
G |
A |
2: 165,222,271 (GRCm39) |
R591W |
probably damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
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'- TGTCACCGTCTCCACTGAAAG -3'
(R):5'- CAATGCCTATGACAGCCATATTTCC -3'
Sequencing Primer
(F):5'- CGTCTCCACTGAAAGTGTAGCTAG -3'
(R):5'- TATGACAGCCATATTTCCCACAGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation