Incidental Mutation 'R9775:Clasp2'
ID |
733647 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9775 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
113570541-113748750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113725740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 794
(T794A)
|
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 benign
Transcript: ENSMUST00000111838
AA Change: T794A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107469 Gene: ENSMUSG00000033392 AA Change: T794A
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: T815A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128460 Gene: ENSMUSG00000033392 AA Change: T815A
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: T795A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000130201 Gene: ENSMUSG00000033392 AA Change: T795A
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: T812A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215022
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
Angptl2 |
G |
A |
2: 33,118,230 (GRCm39) |
M1I |
probably null |
Het |
Bptf |
T |
C |
11: 106,934,502 (GRCm39) |
E223G |
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,076,458 (GRCm39) |
I805N |
|
Het |
Cep152 |
G |
A |
2: 125,423,660 (GRCm39) |
Q914* |
probably null |
Het |
Cntnap2 |
A |
G |
6: 47,026,261 (GRCm39) |
Y970C |
probably damaging |
Het |
Ddx11 |
G |
T |
17: 66,445,157 (GRCm39) |
V360L |
probably damaging |
Het |
Fer1l6 |
G |
A |
15: 58,497,098 (GRCm39) |
V1223I |
probably benign |
Het |
Fez2 |
A |
T |
17: 78,708,183 (GRCm39) |
I255N |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,863,197 (GRCm39) |
V439A |
possibly damaging |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Kcnj9 |
T |
A |
1: 172,153,741 (GRCm39) |
I128F |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,350,393 (GRCm39) |
D146G |
probably damaging |
Het |
Klra6 |
T |
A |
6: 129,999,639 (GRCm39) |
R110W |
probably damaging |
Het |
Ldha |
A |
T |
7: 46,491,047 (GRCm39) |
|
probably benign |
Het |
Lingo2 |
C |
A |
4: 35,708,781 (GRCm39) |
A400S |
probably benign |
Het |
Lrrd1 |
A |
T |
5: 3,899,897 (GRCm39) |
R67S |
probably benign |
Het |
Mapk6 |
C |
T |
9: 75,295,668 (GRCm39) |
C610Y |
possibly damaging |
Het |
Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
Myoz2 |
T |
C |
3: 122,807,399 (GRCm39) |
E137G |
probably damaging |
Het |
Nemp2 |
T |
A |
1: 52,680,064 (GRCm39) |
I96N |
probably damaging |
Het |
Npy1r |
A |
G |
8: 67,157,742 (GRCm39) |
M351V |
possibly damaging |
Het |
Nsg2 |
G |
A |
11: 32,005,029 (GRCm39) |
S77N |
possibly damaging |
Het |
Or10ag53 |
A |
G |
2: 87,082,568 (GRCm39) |
M96V |
probably damaging |
Het |
Or5ac17 |
T |
A |
16: 59,036,069 (GRCm39) |
R302S |
possibly damaging |
Het |
Or6c5c |
T |
C |
10: 129,298,677 (GRCm39) |
I44T |
probably benign |
Het |
Osbpl9 |
G |
A |
4: 109,013,747 (GRCm39) |
|
probably benign |
Het |
Pcolce2 |
G |
A |
9: 95,520,797 (GRCm39) |
C58Y |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,208,927 (GRCm39) |
F2480L |
probably damaging |
Het |
Pip5k1c |
T |
A |
10: 81,147,853 (GRCm39) |
D419E |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,323,435 (GRCm39) |
T242S |
probably benign |
Het |
Ppp1r13b |
A |
C |
12: 111,803,457 (GRCm39) |
S254A |
possibly damaging |
Het |
Pramel17 |
A |
G |
4: 101,694,244 (GRCm39) |
M213T |
probably benign |
Het |
Ripk3 |
A |
G |
14: 56,023,252 (GRCm39) |
L151S |
unknown |
Het |
Scmh1 |
A |
T |
4: 120,340,820 (GRCm39) |
M169L |
probably benign |
Het |
Serpinb9d |
A |
T |
13: 33,382,007 (GRCm39) |
R159W |
probably damaging |
Het |
Slc26a9 |
A |
G |
1: 131,690,970 (GRCm39) |
R583G |
possibly damaging |
Het |
Smim8 |
T |
C |
4: 34,769,068 (GRCm39) |
E72G |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,199,604 (GRCm39) |
N511S |
probably damaging |
Het |
Srprb |
A |
C |
9: 103,078,490 (GRCm39) |
V80G |
probably benign |
Het |
Ssx2ip |
G |
A |
3: 146,136,808 (GRCm39) |
S352N |
probably benign |
Het |
Tbccd1 |
A |
G |
16: 22,652,666 (GRCm39) |
S152P |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,555,761 (GRCm39) |
I2822T |
possibly damaging |
Het |
Tff1 |
A |
G |
17: 31,383,972 (GRCm39) |
V8A |
probably benign |
Het |
Tmem132b |
T |
A |
5: 125,864,566 (GRCm39) |
S891T |
probably benign |
Het |
Tmem200c |
T |
A |
17: 69,149,118 (GRCm39) |
V567D |
probably damaging |
Het |
Trim3 |
G |
A |
7: 105,260,377 (GRCm39) |
T708M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,544,927 (GRCm39) |
N32725S |
possibly damaging |
Het |
Ubash3b |
T |
G |
9: 40,926,214 (GRCm39) |
E633A |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,239,780 (GRCm39) |
R170G |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,037,406 (GRCm39) |
L1222Q |
unknown |
Het |
Zfhx2 |
A |
G |
14: 55,304,562 (GRCm39) |
S1141P |
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 |
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 |
|
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'- AAACAGGGTCCTCACCTCATG -3'
(R):5'- CGTCCTCAGTGGTGTCAATAAAC -3'
Sequencing Primer
(F):5'- TCACCTCATGTCAGGGCAG -3'
(R):5'- TGTCAATAAACACAAGGCTCGTAG -3'
|
Posted On |
2022-11-14 |