Incidental Mutation 'R6464:Clasp2'
ID |
517745 |
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 |
044597-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6464 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113602785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 195
(Y195C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213663]
[ENSMUST00000216817]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157367
|
Predicted Effect |
unknown
Transcript: ENSMUST00000213663
AA Change: Y195C
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216817
AA Change: Y195C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (48/48) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
Cfap70 |
T |
C |
14: 20,451,107 (GRCm39) |
|
probably null |
Het |
Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,317,669 (GRCm39) |
Y385C |
probably damaging |
Het |
Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 64,008,766 (GRCm39) |
D482N |
probably benign |
Het |
Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
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 |
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'- CATGTGGGGCTAAGTCACTAGG -3'
(R):5'- ACTGGTTCCAGGAAACTCAGG -3'
Sequencing Primer
(F):5'- GGCTAAGTCACTAGGGTCTTTAAAAC -3'
(R):5'- AAACTGTTATGGACCCCTGG -3'
|
Posted On |
2018-05-21 |