Incidental Mutation 'R7032:Clasp2'
ID |
546393 |
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 |
045133-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7032 (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 113683391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 407
(N407S)
|
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 benign
Transcript: ENSMUST00000111838
AA Change: N407S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: N407S
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 benign
Transcript: ENSMUST00000163895
AA Change: N407S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: N407S
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 benign
Transcript: ENSMUST00000166734
AA Change: N407S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: N407S
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 benign
Transcript: ENSMUST00000214522
AA Change: N407S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (67/67) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,438 (GRCm39) |
D398E |
possibly damaging |
Het |
Adam34 |
T |
C |
8: 44,105,303 (GRCm39) |
Y114C |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,004,896 (GRCm39) |
D156E |
probably benign |
Het |
Apba1 |
T |
A |
19: 23,889,825 (GRCm39) |
S408T |
probably benign |
Het |
Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
Atf6 |
A |
T |
1: 170,627,181 (GRCm39) |
|
probably null |
Het |
Atp6v1b2 |
T |
A |
8: 69,541,548 (GRCm39) |
V35E |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,255,289 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
C |
A |
10: 4,432,597 (GRCm39) |
P12Q |
unknown |
Het |
Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
Cdo1 |
A |
T |
18: 46,853,475 (GRCm39) |
F94L |
probably damaging |
Het |
Cfap96 |
T |
G |
8: 46,409,474 (GRCm39) |
S282R |
probably damaging |
Het |
Chdh |
C |
T |
14: 29,758,809 (GRCm39) |
P585S |
possibly damaging |
Het |
Clca3a1 |
T |
A |
3: 144,453,329 (GRCm39) |
S465C |
probably benign |
Het |
Clip2 |
C |
A |
5: 134,551,484 (GRCm39) |
V213L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,644,707 (GRCm39) |
S1194P |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,268,463 (GRCm39) |
T421A |
possibly damaging |
Het |
Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,326,796 (GRCm39) |
N2002D |
probably damaging |
Het |
Epn2 |
T |
A |
11: 61,437,528 (GRCm39) |
N15Y |
probably damaging |
Het |
Evi5 |
A |
C |
5: 107,936,147 (GRCm39) |
V647G |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,353,424 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
G |
13: 49,102,589 (GRCm39) |
V222A |
probably benign |
Het |
Fastkd5 |
A |
T |
2: 130,457,864 (GRCm39) |
I242K |
possibly damaging |
Het |
Hnrnpul1 |
A |
G |
7: 25,450,319 (GRCm39) |
M131T |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,744,283 (GRCm39) |
N2100S |
probably damaging |
Het |
Ifi205 |
T |
A |
1: 173,855,916 (GRCm39) |
D38V |
possibly damaging |
Het |
Klhl9 |
G |
A |
4: 88,639,843 (GRCm39) |
Q133* |
probably null |
Het |
Krt84 |
T |
C |
15: 101,436,924 (GRCm39) |
E370G |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,410 (GRCm39) |
I12T |
probably benign |
Het |
Lrriq4 |
T |
A |
3: 30,709,850 (GRCm39) |
L398* |
probably null |
Het |
Ltf |
G |
A |
9: 110,855,198 (GRCm39) |
|
probably null |
Het |
Macf1 |
C |
T |
4: 123,366,101 (GRCm39) |
V1322I |
probably benign |
Het |
Mark2 |
T |
A |
19: 7,264,698 (GRCm39) |
I112L |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,831,649 (GRCm39) |
|
probably null |
Het |
Mterf2 |
A |
T |
10: 84,956,527 (GRCm39) |
C32* |
probably null |
Het |
Myo3b |
C |
T |
2: 69,925,608 (GRCm39) |
T25I |
probably damaging |
Het |
Nsun7 |
A |
C |
5: 66,421,378 (GRCm39) |
I115L |
probably benign |
Het |
Olfm3 |
G |
A |
3: 114,883,805 (GRCm39) |
V36M |
probably damaging |
Het |
Or1p1c |
T |
C |
11: 74,160,428 (GRCm39) |
I71T |
possibly damaging |
Het |
Or5d44 |
T |
C |
2: 88,141,373 (GRCm39) |
T256A |
probably benign |
Het |
Or8b3 |
A |
T |
9: 38,314,965 (GRCm39) |
Y262F |
possibly damaging |
Het |
Or8g18 |
A |
T |
9: 39,148,983 (GRCm39) |
S246T |
possibly damaging |
Het |
Pcdhgb8 |
A |
T |
18: 37,896,962 (GRCm39) |
R677S |
probably benign |
Het |
Prrt4 |
A |
C |
6: 29,170,538 (GRCm39) |
L638R |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rab44 |
T |
C |
17: 29,359,438 (GRCm39) |
F542S |
unknown |
Het |
Rhobtb3 |
T |
A |
13: 76,020,513 (GRCm39) |
E596D |
probably benign |
Het |
Rpl36 |
T |
C |
17: 56,920,944 (GRCm39) |
I44T |
probably benign |
Het |
Rptor |
A |
G |
11: 119,737,762 (GRCm39) |
I112V |
probably benign |
Het |
Rxfp2 |
T |
C |
5: 149,993,813 (GRCm39) |
I611T |
probably damaging |
Het |
Slc12a4 |
G |
T |
8: 106,675,865 (GRCm39) |
N553K |
probably damaging |
Het |
Spata31d1d |
T |
A |
13: 59,876,046 (GRCm39) |
R496S |
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,125 (GRCm39) |
D387G |
possibly damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,153 (GRCm39) |
C299S |
possibly damaging |
Het |
Tbc1d21 |
A |
T |
9: 58,274,134 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
A |
T |
7: 35,180,471 (GRCm39) |
Y847* |
probably null |
Het |
Tlr2 |
A |
T |
3: 83,745,212 (GRCm39) |
N290K |
probably benign |
Het |
Tmppe |
A |
G |
9: 114,234,858 (GRCm39) |
T386A |
probably damaging |
Het |
Tnks1bp1 |
C |
A |
2: 84,892,297 (GRCm39) |
H741Q |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,609,951 (GRCm39) |
V140M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,641,932 (GRCm39) |
D13427G |
probably damaging |
Het |
Uba7 |
C |
A |
9: 107,853,371 (GRCm39) |
L106I |
possibly damaging |
Het |
Unc5b |
T |
G |
10: 60,614,587 (GRCm39) |
T237P |
probably damaging |
Het |
Vit |
A |
C |
17: 78,932,294 (GRCm39) |
D467A |
probably damaging |
Het |
Vmn1r103 |
T |
C |
7: 20,243,780 (GRCm39) |
Y227C |
possibly damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,776,017 (GRCm39) |
Y196* |
probably null |
Het |
Zhx3 |
A |
G |
2: 160,622,898 (GRCm39) |
V423A |
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 |
|
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'- GTGTTGCCACAGATGACGAG -3'
(R):5'- CATGGGATCAAGAACAGTATGTC -3'
Sequencing Primer
(F):5'- TGCCACAGATGACGAGTTTATG -3'
(R):5'- TGGGATCAAGAACAGTATGTCTGATC -3'
|
Posted On |
2019-05-13 |