Incidental Mutation 'R5122:Clstn2'
ID |
393353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn2
|
Ensembl Gene |
ENSMUSG00000032452 |
Gene Name |
calsyntenin 2 |
Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
MMRRC Submission |
042710-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5122 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97343474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 658
(V658M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
AlphaFold |
Q9ER65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035027
AA Change: V658M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035027 Gene: ENSMUSG00000032452 AA Change: V658M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
67 |
160 |
2e-10 |
SMART |
CA
|
183 |
261 |
1.18e-3 |
SMART |
SCOP:d1a8d_1
|
358 |
538 |
5e-21 |
SMART |
Blast:LamG
|
380 |
529 |
3e-41 |
BLAST |
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162295
AA Change: V658M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124081 Gene: ENSMUSG00000032452 AA Change: V658M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
67 |
160 |
2e-10 |
SMART |
CA
|
183 |
261 |
1.18e-3 |
SMART |
Pfam:Laminin_G_3
|
356 |
533 |
1.4e-9 |
PFAM |
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
C |
7: 78,750,409 (GRCm39) |
S1727P |
probably damaging |
Het |
Actr8 |
A |
T |
14: 29,704,672 (GRCm39) |
K57N |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,906 (GRCm39) |
|
probably null |
Het |
Bmp2k |
A |
G |
5: 97,234,874 (GRCm39) |
|
probably benign |
Het |
Cd274 |
A |
G |
19: 29,357,965 (GRCm39) |
H219R |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,814,570 (GRCm39) |
Y118F |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Chchd3 |
T |
C |
6: 32,945,240 (GRCm39) |
R89G |
probably benign |
Het |
Cpt1b |
A |
G |
15: 89,308,226 (GRCm39) |
S160P |
probably benign |
Het |
Crym |
T |
C |
7: 119,794,718 (GRCm39) |
N167S |
probably benign |
Het |
Dhx16 |
T |
A |
17: 36,194,202 (GRCm39) |
Y438N |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,439,155 (GRCm39) |
R536G |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,061,454 (GRCm39) |
D382G |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,596,114 (GRCm39) |
G1547D |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,915,060 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,816,036 (GRCm39) |
P2799S |
probably damaging |
Het |
Ephb6 |
T |
C |
6: 41,590,338 (GRCm39) |
V30A |
probably benign |
Het |
Fam53b |
T |
A |
7: 132,380,991 (GRCm39) |
|
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,293,081 (GRCm39) |
K246R |
probably benign |
Het |
Focad |
G |
A |
4: 88,325,602 (GRCm39) |
|
probably null |
Het |
Glipr1l2 |
T |
C |
10: 111,942,961 (GRCm39) |
I272T |
possibly damaging |
Het |
Gm8104 |
A |
G |
14: 42,966,550 (GRCm39) |
I101V |
probably benign |
Het |
Grm5 |
A |
G |
7: 87,724,028 (GRCm39) |
I773V |
probably damaging |
Het |
Hyal1 |
A |
T |
9: 107,455,268 (GRCm39) |
T193S |
probably benign |
Het |
Igkv10-94 |
C |
A |
6: 68,681,655 (GRCm39) |
G62* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,690,732 (GRCm39) |
|
probably benign |
Het |
Kank4 |
A |
G |
4: 98,644,804 (GRCm39) |
S983P |
probably damaging |
Het |
Krtap16-1 |
C |
A |
11: 99,876,523 (GRCm39) |
V294F |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,672,823 (GRCm39) |
V866G |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,256,461 (GRCm39) |
R1268* |
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,023,314 (GRCm39) |
V984I |
probably damaging |
Het |
Macf1 |
A |
C |
4: 123,346,085 (GRCm39) |
V4136G |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,670,593 (GRCm39) |
E419D |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,324,518 (GRCm39) |
Y473C |
probably damaging |
Het |
Nod2 |
G |
T |
8: 89,390,748 (GRCm39) |
D330Y |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,878,360 (GRCm39) |
C458Y |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,662,976 (GRCm39) |
I681T |
probably damaging |
Het |
Or10a5 |
C |
A |
7: 106,636,055 (GRCm39) |
S231* |
probably null |
Het |
Papolg |
C |
T |
11: 23,817,501 (GRCm39) |
|
probably null |
Het |
Parn |
A |
G |
16: 13,472,311 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
C |
7: 101,880,598 (GRCm39) |
F42S |
probably damaging |
Het |
Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
Pofut2 |
G |
C |
10: 77,104,399 (GRCm39) |
R392P |
probably damaging |
Het |
Prpf18 |
T |
C |
2: 4,648,520 (GRCm39) |
D102G |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,114,744 (GRCm39) |
I701N |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,052,194 (GRCm39) |
K45R |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,032 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
A |
13: 77,198,106 (GRCm39) |
M723L |
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,819,141 (GRCm39) |
S47P |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,800,647 (GRCm39) |
T187A |
probably benign |
Het |
Stk17b |
A |
C |
1: 53,815,717 (GRCm39) |
N27K |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,963,172 (GRCm39) |
Y295N |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,000,306 (GRCm39) |
V353A |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,718,749 (GRCm39) |
T2991S |
possibly damaging |
Het |
Urb1 |
G |
A |
16: 90,548,983 (GRCm39) |
R2242* |
probably null |
Het |
Vasp |
T |
C |
7: 18,998,697 (GRCm39) |
N20S |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably damaging |
Het |
|
Other mutations in Clstn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
IGL00563:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
IGL00733:Clstn2
|
APN |
9 |
97,365,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01303:Clstn2
|
APN |
9 |
97,365,128 (GRCm39) |
nonsense |
probably null |
|
IGL01935:Clstn2
|
APN |
9 |
97,345,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02157:Clstn2
|
APN |
9 |
97,423,928 (GRCm39) |
missense |
probably benign |
|
IGL02974:Clstn2
|
APN |
9 |
97,414,760 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03164:Clstn2
|
APN |
9 |
97,681,462 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03298:Clstn2
|
APN |
9 |
97,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Clstn2
|
UTSW |
9 |
97,340,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0845:Clstn2
|
UTSW |
9 |
97,452,681 (GRCm39) |
missense |
probably benign |
0.39 |
R0992:Clstn2
|
UTSW |
9 |
97,327,765 (GRCm39) |
missense |
probably benign |
0.00 |
R1105:Clstn2
|
UTSW |
9 |
97,465,552 (GRCm39) |
splice site |
probably null |
|
R1112:Clstn2
|
UTSW |
9 |
97,340,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1264:Clstn2
|
UTSW |
9 |
97,339,662 (GRCm39) |
missense |
probably benign |
0.28 |
R1275:Clstn2
|
UTSW |
9 |
97,339,483 (GRCm39) |
missense |
probably benign |
0.00 |
R1329:Clstn2
|
UTSW |
9 |
97,340,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Clstn2
|
UTSW |
9 |
97,343,446 (GRCm39) |
missense |
probably benign |
0.02 |
R1556:Clstn2
|
UTSW |
9 |
97,338,558 (GRCm39) |
missense |
probably benign |
0.41 |
R1703:Clstn2
|
UTSW |
9 |
97,340,290 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1837:Clstn2
|
UTSW |
9 |
97,465,593 (GRCm39) |
missense |
probably benign |
0.00 |
R2911:Clstn2
|
UTSW |
9 |
97,414,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R3434:Clstn2
|
UTSW |
9 |
97,336,768 (GRCm39) |
missense |
probably benign |
0.17 |
R3771:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R3772:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R3854:Clstn2
|
UTSW |
9 |
97,345,648 (GRCm39) |
nonsense |
probably null |
|
R4049:Clstn2
|
UTSW |
9 |
97,339,613 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4334:Clstn2
|
UTSW |
9 |
97,345,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Clstn2
|
UTSW |
9 |
97,345,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4755:Clstn2
|
UTSW |
9 |
97,327,726 (GRCm39) |
missense |
probably benign |
0.01 |
R4884:Clstn2
|
UTSW |
9 |
97,681,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5017:Clstn2
|
UTSW |
9 |
97,365,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R5076:Clstn2
|
UTSW |
9 |
97,365,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Clstn2
|
UTSW |
9 |
97,338,484 (GRCm39) |
missense |
probably benign |
0.02 |
R5560:Clstn2
|
UTSW |
9 |
97,351,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6009:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
R6011:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
R6029:Clstn2
|
UTSW |
9 |
97,338,634 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Clstn2
|
UTSW |
9 |
97,340,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Clstn2
|
UTSW |
9 |
97,336,727 (GRCm39) |
missense |
probably benign |
|
R6676:Clstn2
|
UTSW |
9 |
97,343,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R6902:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6946:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6966:Clstn2
|
UTSW |
9 |
97,408,459 (GRCm39) |
nonsense |
probably null |
|
R7329:Clstn2
|
UTSW |
9 |
97,343,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7330:Clstn2
|
UTSW |
9 |
97,343,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7382:Clstn2
|
UTSW |
9 |
97,681,451 (GRCm39) |
nonsense |
probably null |
|
R7410:Clstn2
|
UTSW |
9 |
97,423,920 (GRCm39) |
missense |
probably benign |
0.06 |
R7549:Clstn2
|
UTSW |
9 |
97,464,597 (GRCm39) |
missense |
probably benign |
0.01 |
R7879:Clstn2
|
UTSW |
9 |
97,351,817 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8070:Clstn2
|
UTSW |
9 |
97,681,523 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8193:Clstn2
|
UTSW |
9 |
97,465,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R8422:Clstn2
|
UTSW |
9 |
97,340,239 (GRCm39) |
missense |
probably benign |
0.39 |
R9190:Clstn2
|
UTSW |
9 |
97,414,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Clstn2
|
UTSW |
9 |
97,343,395 (GRCm39) |
missense |
probably benign |
0.00 |
R9305:Clstn2
|
UTSW |
9 |
97,343,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R9347:Clstn2
|
UTSW |
9 |
97,464,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Clstn2
|
UTSW |
9 |
97,414,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R9751:Clstn2
|
UTSW |
9 |
97,339,703 (GRCm39) |
missense |
probably damaging |
0.98 |
X0027:Clstn2
|
UTSW |
9 |
97,408,452 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clstn2
|
UTSW |
9 |
97,343,409 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATCGTTCTGCCCTGGGTAAG -3'
(R):5'- CCTCAGAGACTCCCAACAGTTG -3'
Sequencing Primer
(F):5'- AAGCCGTGTGTCTGTCCTGAAG -3'
(R):5'- ACTGGAGTGGCAGTCCCTTAC -3'
|
Posted On |
2016-06-15 |