Incidental Mutation 'R5787:Clasp2'
| ID |
448093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clasp2
|
| Ensembl Gene |
ENSMUSG00000033392 |
| Gene Name |
CLIP associating protein 2 |
| Synonyms |
CLASP2alpha, 1500004F14Rik, CLASP2gamma, CLASP2, CLASP2beta, 8030404L10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113691310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 448
(D448N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128460
(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: D448N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: D448N
| 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: D448N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: D448N
| 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: D448N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: D448N
| 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 damaging
Transcript: ENSMUST00000214522
AA Change: D448N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adam24 |
A |
G |
8: 41,133,941 (GRCm39) |
N470D |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,576,067 (GRCm39) |
D1027G |
probably damaging |
Het |
| Amph |
A |
T |
13: 19,132,624 (GRCm39) |
I8F |
possibly damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,909,400 (GRCm39) |
D43G |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,046,882 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
T |
A |
11: 58,811,169 (GRCm39) |
I164N |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,858,291 (GRCm39) |
Q71* |
probably null |
Het |
| Ceacam3 |
G |
A |
7: 16,888,971 (GRCm39) |
E247K |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,386,457 (GRCm39) |
D201G |
probably benign |
Het |
| Clcn2 |
C |
A |
16: 20,522,183 (GRCm39) |
R829L |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,384,898 (GRCm39) |
S440P |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,797 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,260,438 (GRCm39) |
I304V |
probably benign |
Het |
| Cyp11a1 |
C |
A |
9: 57,922,550 (GRCm39) |
Q77K |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,935,313 (GRCm39) |
V101A |
probably benign |
Het |
| Cyp4f15 |
T |
C |
17: 32,921,782 (GRCm39) |
F485L |
probably damaging |
Het |
| Des |
T |
A |
1: 75,340,290 (GRCm39) |
V399E |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,592,145 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,855 (GRCm39) |
E134G |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,901,637 (GRCm39) |
D100G |
probably damaging |
Het |
| Erich1 |
T |
C |
8: 14,083,776 (GRCm39) |
|
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,546,693 (GRCm39) |
V82A |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,052,985 (GRCm39) |
D219G |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,624,975 (GRCm39) |
V37E |
probably benign |
Het |
| Isg20 |
T |
A |
7: 78,569,558 (GRCm39) |
D176E |
probably benign |
Het |
| Islr2 |
A |
G |
9: 58,105,637 (GRCm39) |
V585A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,422,663 (GRCm39) |
E991G |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,726 (GRCm39) |
Y104C |
probably damaging |
Het |
| Lrtm1 |
G |
C |
14: 28,743,947 (GRCm39) |
E138D |
possibly damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,461,682 (GRCm39) |
N64D |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Nop9 |
T |
G |
14: 55,983,791 (GRCm39) |
C141G |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,141 (GRCm39) |
E471G |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,633,593 (GRCm39) |
T246A |
possibly damaging |
Het |
| Or2t1 |
A |
C |
14: 14,328,725 (GRCm38) |
M205L |
probably damaging |
Het |
| Or4a76 |
T |
A |
2: 89,461,018 (GRCm39) |
I75F |
probably benign |
Het |
| Or6z1 |
A |
T |
7: 6,504,989 (GRCm39) |
S79T |
probably damaging |
Het |
| Pdlim4 |
T |
A |
11: 53,946,042 (GRCm39) |
D271V |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,430,753 (GRCm39) |
V518A |
possibly damaging |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rbsn |
C |
T |
6: 92,176,797 (GRCm39) |
V239I |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,460 (GRCm39) |
I314F |
possibly damaging |
Het |
| S1pr2 |
A |
T |
9: 20,879,232 (GRCm39) |
S199T |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,931,151 (GRCm39) |
L902P |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,825 (GRCm39) |
T200A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,696,166 (GRCm39) |
I956N |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,748,812 (GRCm39) |
V15A |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,084,647 (GRCm39) |
V533E |
possibly damaging |
Het |
| Tbck |
A |
T |
3: 132,443,329 (GRCm39) |
D585V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,271,037 (GRCm39) |
L80Q |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,521,051 (GRCm39) |
R138* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,627 (GRCm39) |
N23422S |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,260,511 (GRCm39) |
*1023Q |
probably null |
Het |
| Vmn1r208 |
T |
C |
13: 22,956,841 (GRCm39) |
N219D |
possibly damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,244 (GRCm39) |
S98R |
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 |
|
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'- TGGCACACATTTGAAAACAGTC -3'
(R):5'- CAAGAACTCAGTATGTGGCTTGTTG -3'
Sequencing Primer
(F):5'- CTCATGTAGAACAGGCTGGTC -3'
(R):5'- GGCTTTTCGAATCAGCTTTGAATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation