Incidental Mutation 'R8922:Clasp2'
ID |
679344 |
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 |
068767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8922 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 113725728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 790
(K790*)
|
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 null
Transcript: ENSMUST00000111838
AA Change: K790*
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: K790*
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 null
Transcript: ENSMUST00000163895
AA Change: K811*
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: K811*
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 null
Transcript: ENSMUST00000166734
AA Change: K791*
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: K791*
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 null
Transcript: ENSMUST00000214522
AA Change: K808*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (78/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
A |
G |
8: 88,295,177 (GRCm39) |
D105G |
possibly damaging |
Het |
Abhd14b |
T |
C |
9: 106,328,835 (GRCm39) |
|
probably null |
Het |
Acot1 |
C |
T |
12: 84,064,085 (GRCm39) |
Q398* |
probably null |
Het |
Adam26b |
A |
T |
8: 43,973,216 (GRCm39) |
D595E |
probably damaging |
Het |
Aldh1l1 |
T |
A |
6: 90,536,256 (GRCm39) |
F54I |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,223,417 (GRCm39) |
E871K |
probably damaging |
Het |
Aspg |
A |
T |
12: 112,089,830 (GRCm39) |
D456V |
possibly damaging |
Het |
Cacna1b |
A |
C |
2: 24,622,340 (GRCm39) |
S215A |
possibly damaging |
Het |
Car3 |
A |
T |
3: 14,931,952 (GRCm39) |
T108S |
|
Het |
Ccdc91 |
C |
T |
6: 147,412,358 (GRCm39) |
Q23* |
probably null |
Het |
Cd300lg |
A |
T |
11: 101,945,028 (GRCm39) |
I413F |
probably damaging |
Het |
Ces2h |
T |
A |
8: 105,744,756 (GRCm39) |
M378K |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,272,030 (GRCm39) |
T1261I |
probably benign |
Het |
Cir1 |
G |
A |
2: 73,118,053 (GRCm39) |
S164L |
possibly damaging |
Het |
Cpne8 |
A |
T |
15: 90,456,213 (GRCm39) |
D183E |
probably damaging |
Het |
Dhrs13 |
A |
G |
11: 77,923,425 (GRCm39) |
I48V |
possibly damaging |
Het |
Dpp8 |
G |
T |
9: 64,981,793 (GRCm39) |
V692L |
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,055,838 (GRCm39) |
I660N |
probably benign |
Het |
Exosc5 |
T |
C |
7: 25,363,673 (GRCm39) |
V88A |
probably benign |
Het |
Extl3 |
G |
A |
14: 65,292,255 (GRCm39) |
T856I |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,456,835 (GRCm39) |
V2277A |
probably damaging |
Het |
Frmd8 |
A |
G |
19: 5,923,295 (GRCm39) |
I52T |
probably benign |
Het |
Gm8947 |
C |
T |
1: 151,068,655 (GRCm39) |
R163C |
probably benign |
Het |
Golga7 |
A |
T |
8: 23,740,288 (GRCm39) |
C81S |
probably damaging |
Het |
Grik1 |
A |
C |
16: 87,693,167 (GRCm39) |
S879A |
unknown |
Het |
Helz |
A |
G |
11: 107,539,985 (GRCm39) |
T1002A |
possibly damaging |
Het |
Hes1 |
T |
A |
16: 29,884,725 (GRCm39) |
L62* |
probably null |
Het |
Hmgn2-ps |
A |
G |
8: 73,058,953 (GRCm39) |
S25P |
probably benign |
Het |
Hnrnpdl |
A |
T |
5: 100,184,419 (GRCm39) |
Y371* |
probably null |
Het |
Ifna11 |
T |
C |
4: 88,738,431 (GRCm39) |
V79A |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,085,938 (GRCm39) |
|
probably benign |
Het |
Kap |
T |
C |
6: 133,827,054 (GRCm39) |
I110V |
probably benign |
Het |
Lmbrd2 |
A |
G |
15: 9,172,231 (GRCm39) |
K342E |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,263,973 (GRCm39) |
D1549G |
probably damaging |
Het |
Luzp1 |
C |
T |
4: 136,270,233 (GRCm39) |
H819Y |
probably damaging |
Het |
Mmp21 |
T |
A |
7: 133,276,000 (GRCm39) |
|
probably benign |
Het |
Mto1 |
T |
C |
9: 78,377,928 (GRCm39) |
V590A |
probably benign |
Het |
Myom3 |
T |
C |
4: 135,492,222 (GRCm39) |
L122P |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,582,938 (GRCm39) |
Y161C |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,163,939 (GRCm39) |
V197A |
unknown |
Het |
Opn4 |
A |
C |
14: 34,314,955 (GRCm39) |
S439R |
probably benign |
Het |
Or12j3 |
T |
A |
7: 139,953,389 (GRCm39) |
I45F |
possibly damaging |
Het |
Or4c3d |
C |
A |
2: 89,882,695 (GRCm39) |
|
probably benign |
Het |
Or56a41 |
C |
A |
7: 104,740,469 (GRCm39) |
V126L |
probably benign |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,957 (GRCm39) |
D231E |
unknown |
Het |
Pik3c2a |
G |
T |
7: 116,017,659 (GRCm39) |
Q33K |
probably damaging |
Het |
Pm20d1 |
G |
T |
1: 131,728,853 (GRCm39) |
S93I |
possibly damaging |
Het |
Pou3f1 |
C |
T |
4: 124,552,176 (GRCm39) |
A226V |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,923,815 (GRCm39) |
E191G |
probably benign |
Het |
Prkag1 |
T |
C |
15: 98,712,147 (GRCm39) |
T208A |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,319,194 (GRCm39) |
I871T |
probably benign |
Het |
Rhd |
T |
C |
4: 134,612,627 (GRCm39) |
S293P |
probably damaging |
Het |
Rprd2 |
G |
T |
3: 95,687,896 (GRCm39) |
T252K |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,363,766 (GRCm39) |
R458L |
probably benign |
Het |
Scrib |
C |
T |
15: 75,933,587 (GRCm39) |
|
probably null |
Het |
Sec24d |
G |
A |
3: 123,144,488 (GRCm39) |
G655E |
probably damaging |
Het |
Serpine3 |
A |
G |
14: 62,910,503 (GRCm39) |
R199G |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Slc44a1 |
A |
G |
4: 53,544,545 (GRCm39) |
K419E |
probably damaging |
Het |
Speer4a3 |
C |
T |
5: 26,156,594 (GRCm39) |
M128I |
possibly damaging |
Het |
Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
Tcstv2a |
A |
G |
13: 120,725,666 (GRCm39) |
E110G |
probably benign |
Het |
Tesmin |
A |
G |
19: 3,454,163 (GRCm39) |
K346E |
probably damaging |
Het |
Thpo |
A |
T |
16: 20,547,680 (GRCm39) |
L6Q |
unknown |
Het |
Tlr2 |
T |
A |
3: 83,745,075 (GRCm39) |
E336V |
probably benign |
Het |
Tmem167b |
A |
G |
3: 108,467,541 (GRCm39) |
L35P |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,625,101 (GRCm39) |
E1395D |
possibly damaging |
Het |
Trim29 |
G |
T |
9: 43,233,636 (GRCm39) |
R434L |
possibly damaging |
Het |
Trim68 |
T |
C |
7: 102,327,550 (GRCm39) |
I468V |
probably benign |
Het |
Ttn |
C |
A |
2: 76,542,628 (GRCm39) |
V33453F |
probably benign |
Het |
Ubac1 |
A |
T |
2: 25,896,621 (GRCm39) |
V298D |
probably damaging |
Het |
Vmn1r185 |
C |
A |
7: 26,310,825 (GRCm39) |
V227F |
probably damaging |
Het |
Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,743,857 (GRCm39) |
Y152H |
probably benign |
Het |
Zbtb20 |
A |
T |
16: 43,397,968 (GRCm39) |
N19I |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,213,422 (GRCm39) |
M512T |
possibly 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 |
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'- GCTCATACTCTGGAAATGGAGTAAG -3'
(R):5'- GGCTCGTAGCTAACAAAAGAGC -3'
Sequencing Primer
(F):5'- TGGAAACAGGGTCCTCACCTC -3'
(R):5'- CTCTGTCGTCCAAGTGAT -3'
|
Posted On |
2021-08-02 |