Incidental Mutation 'R6026:Clasp2'
ID |
480051 |
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 |
044198-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6026 (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 113740646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 1208
(N1208D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130201
(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: N1207D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: N1207D
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: N1228D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: N1228D
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: N1208D
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: N1208D
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
AA Change: N521D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214522
AA Change: N1225D
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Meta Mutation Damage Score |
0.1055 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
97% (73/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
A |
G |
11: 58,316,581 (GRCm39) |
D187G |
probably benign |
Het |
4933421I07Rik |
A |
T |
7: 42,095,708 (GRCm39) |
M180K |
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,190 (GRCm39) |
H345R |
possibly damaging |
Het |
Abcc8 |
T |
C |
7: 45,816,424 (GRCm39) |
T239A |
probably benign |
Het |
Abcf3 |
A |
G |
16: 20,369,320 (GRCm39) |
E234G |
probably damaging |
Het |
Actrt2 |
T |
C |
4: 154,751,047 (GRCm39) |
D363G |
possibly damaging |
Het |
Adam1a |
A |
T |
5: 121,657,425 (GRCm39) |
C623S |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Barhl2 |
T |
A |
5: 106,603,474 (GRCm39) |
K228N |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,162,115 (GRCm39) |
H153R |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,332,601 (GRCm39) |
D480G |
probably damaging |
Het |
Cct3 |
T |
C |
3: 88,219,029 (GRCm39) |
I182T |
possibly damaging |
Het |
Col26a1 |
A |
G |
5: 136,876,354 (GRCm39) |
C89R |
probably damaging |
Het |
Cops4 |
T |
A |
5: 100,690,194 (GRCm39) |
|
probably benign |
Het |
Cpox |
T |
A |
16: 58,491,298 (GRCm39) |
W170R |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,875,560 (GRCm39) |
K656E |
probably benign |
Het |
Eif4e |
T |
C |
3: 138,256,661 (GRCm39) |
I66T |
probably damaging |
Het |
Ercc3 |
T |
C |
18: 32,378,974 (GRCm39) |
|
probably null |
Het |
Esp38 |
G |
A |
17: 40,266,032 (GRCm39) |
C47Y |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,528,731 (GRCm39) |
V380A |
possibly damaging |
Het |
Fbxw7 |
T |
A |
3: 84,859,948 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
G |
5: 73,257,340 (GRCm39) |
R736S |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,513,748 (GRCm39) |
V62M |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,368,454 (GRCm39) |
T1045A |
probably damaging |
Het |
Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
Gm19410 |
G |
A |
8: 36,279,580 (GRCm39) |
S1815N |
probably benign |
Het |
Gm28051 |
A |
T |
12: 102,686,444 (GRCm39) |
L72Q |
unknown |
Het |
Gm44511 |
T |
C |
6: 128,797,240 (GRCm39) |
T83A |
possibly damaging |
Het |
Grk2 |
C |
T |
19: 4,340,811 (GRCm39) |
V246I |
probably damaging |
Het |
Grm7 |
C |
T |
6: 111,478,500 (GRCm39) |
Q62* |
probably null |
Het |
Gsdmc3 |
T |
A |
15: 63,738,600 (GRCm39) |
E154V |
probably damaging |
Het |
Gstz1 |
A |
C |
12: 87,206,948 (GRCm39) |
Q114P |
probably damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hhip |
A |
T |
8: 80,699,069 (GRCm39) |
C666S |
probably damaging |
Het |
Hif1a |
A |
C |
12: 73,979,055 (GRCm39) |
H193P |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,449,398 (GRCm39) |
T385A |
probably benign |
Het |
Ihh |
T |
C |
1: 74,985,886 (GRCm39) |
T200A |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,997,478 (GRCm39) |
V218E |
probably damaging |
Het |
Lct |
A |
G |
1: 128,227,755 (GRCm39) |
I1246T |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,118,426 (GRCm39) |
V217A |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,409,272 (GRCm39) |
D1616N |
probably damaging |
Het |
Lrrfip2 |
A |
T |
9: 111,043,239 (GRCm39) |
T165S |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,356,957 (GRCm39) |
Y272H |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,571,154 (GRCm39) |
M455T |
unknown |
Het |
Ncapg2 |
A |
T |
12: 116,406,641 (GRCm39) |
D939V |
possibly damaging |
Het |
Ncbp3 |
T |
C |
11: 72,958,548 (GRCm39) |
V236A |
probably benign |
Het |
Obscn |
T |
A |
11: 58,957,916 (GRCm39) |
T3595S |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,797 (GRCm39) |
S545P |
possibly damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,914 (GRCm39) |
I48F |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pdzrn3 |
A |
C |
6: 101,339,105 (GRCm39) |
C269G |
probably benign |
Het |
Pear1 |
T |
A |
3: 87,664,220 (GRCm39) |
N278Y |
probably damaging |
Het |
Phb1 |
C |
T |
11: 95,562,245 (GRCm39) |
R41* |
probably null |
Het |
Pikfyve |
T |
C |
1: 65,311,856 (GRCm39) |
V2031A |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,122 (GRCm39) |
I1465V |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,167,113 (GRCm39) |
N776S |
probably benign |
Het |
Prkce |
A |
T |
17: 86,800,658 (GRCm39) |
E358V |
probably benign |
Het |
Prl5a1 |
A |
T |
13: 28,335,247 (GRCm39) |
I219F |
probably benign |
Het |
Prss3 |
T |
C |
6: 41,354,488 (GRCm39) |
|
probably null |
Het |
Ptprc |
A |
T |
1: 137,998,987 (GRCm39) |
M858K |
probably damaging |
Het |
Retreg3 |
T |
C |
11: 100,997,226 (GRCm39) |
T85A |
probably damaging |
Het |
Rfc2 |
T |
A |
5: 134,624,185 (GRCm39) |
C265S |
probably damaging |
Het |
Smarcd1 |
G |
T |
15: 99,603,619 (GRCm39) |
V256L |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,771,142 (GRCm39) |
F574L |
probably damaging |
Het |
Tcirg1 |
T |
C |
19: 3,947,487 (GRCm39) |
H624R |
probably benign |
Het |
Tcstv1a |
C |
A |
13: 120,355,987 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,963,556 (GRCm39) |
|
probably null |
Het |
Tomm40 |
A |
G |
7: 19,444,889 (GRCm39) |
V164A |
probably benign |
Het |
Txnl4a |
T |
C |
18: 80,250,482 (GRCm39) |
V26A |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,484,336 (GRCm39) |
F229L |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,604,541 (GRCm39) |
T1785A |
probably benign |
Het |
Vmn1r22 |
T |
A |
6: 57,877,390 (GRCm39) |
I196L |
probably benign |
Het |
Zfp652 |
T |
G |
11: 95,640,788 (GRCm39) |
C238G |
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 |
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'- AGGTGGTGAGATCTGCTGAG -3'
(R):5'- TCCTAAATGATAGAGTGAAAATCCGA -3'
Sequencing Primer
(F):5'- AGGAAGCTGCCTCCGTATTG -3'
(R):5'- CTGACCATCGACATTAGTGATGG -3'
|
Posted On |
2017-06-26 |