Incidental Mutation 'IGL02974:Clstn2'
| ID |
406267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clstn2
|
| Ensembl Gene |
ENSMUSG00000032452 |
| Gene Name |
calsyntenin 2 |
| Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97414760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 378
(T378M)
|
| 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: T378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: T378M
| 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: T378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: T378M
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
C |
T |
5: 48,545,479 (GRCm39) |
T242M |
probably damaging |
Het |
| Abcg3 |
A |
T |
5: 105,116,129 (GRCm39) |
I235N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,757 (GRCm39) |
L416S |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,116,079 (GRCm39) |
D165G |
probably benign |
Het |
| Aldh18a1 |
T |
A |
19: 40,557,528 (GRCm39) |
I341F |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,237,575 (GRCm39) |
V7A |
probably benign |
Het |
| Apc |
C |
T |
18: 34,401,436 (GRCm39) |
|
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,197,566 (GRCm39) |
Y195H |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,191,800 (GRCm39) |
M22K |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,020,355 (GRCm39) |
N797K |
possibly damaging |
Het |
| Chd8 |
T |
A |
14: 52,439,158 (GRCm39) |
|
probably null |
Het |
| Elf2 |
A |
G |
3: 51,165,110 (GRCm39) |
V298A |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,188,250 (GRCm39) |
D1530N |
probably null |
Het |
| Fcrl2 |
A |
T |
3: 87,164,704 (GRCm39) |
I274N |
possibly damaging |
Het |
| Fmo3 |
C |
T |
1: 162,810,619 (GRCm39) |
E24K |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,542,425 (GRCm39) |
N408K |
probably damaging |
Het |
| Foxn2 |
A |
T |
17: 88,770,543 (GRCm39) |
N130I |
probably damaging |
Het |
| Fscb |
T |
A |
12: 64,518,299 (GRCm39) |
I1056F |
unknown |
Het |
| Gimap5 |
A |
C |
6: 48,730,311 (GRCm39) |
T294P |
possibly damaging |
Het |
| Gm20489 |
T |
C |
X: 100,307,320 (GRCm39) |
Q11R |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,220 (GRCm39) |
T151A |
possibly damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,451 (GRCm39) |
H30L |
probably damaging |
Het |
| Ints6l |
C |
A |
X: 55,552,296 (GRCm39) |
S845Y |
probably benign |
Het |
| Iqcf3 |
A |
T |
9: 106,430,844 (GRCm39) |
C101* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,459,020 (GRCm39) |
Q7* |
probably null |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,103 (GRCm39) |
H716L |
possibly damaging |
Het |
| Lefty1 |
C |
A |
1: 180,762,842 (GRCm39) |
H56Q |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,390,885 (GRCm39) |
Y3004C |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,705,341 (GRCm39) |
S177* |
probably null |
Het |
| Naa15 |
A |
G |
3: 51,368,628 (GRCm39) |
K576R |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,298,186 (GRCm39) |
S617P |
probably damaging |
Het |
| Olfm1 |
T |
G |
2: 28,119,701 (GRCm39) |
N445K |
probably damaging |
Het |
| Or4ac1-ps1 |
C |
T |
2: 88,370,579 (GRCm39) |
|
silent |
Het |
| Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
| Ostm1 |
T |
A |
10: 42,559,158 (GRCm39) |
N139K |
probably damaging |
Het |
| Ovol1 |
A |
G |
19: 5,601,177 (GRCm39) |
Y205H |
probably damaging |
Het |
| Pappa |
C |
T |
4: 65,123,172 (GRCm39) |
L836F |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,636,637 (GRCm39) |
K229E |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,252 (GRCm39) |
V44E |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,600,228 (GRCm39) |
F611L |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,738,743 (GRCm39) |
Y2832* |
probably null |
Het |
| Robo1 |
T |
A |
16: 72,803,750 (GRCm39) |
Y1099N |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,046,866 (GRCm39) |
H226R |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,579,553 (GRCm39) |
V570I |
probably damaging |
Het |
| Slc27a1 |
C |
A |
8: 72,036,847 (GRCm39) |
A361D |
probably damaging |
Het |
| Srp68 |
T |
C |
11: 116,137,051 (GRCm39) |
N549D |
probably benign |
Het |
| Terb1 |
G |
T |
8: 105,221,600 (GRCm39) |
S202* |
probably null |
Het |
| Tmc1 |
T |
A |
19: 20,878,208 (GRCm39) |
M96L |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,454,235 (GRCm39) |
V190A |
probably damaging |
Het |
| Ttll6 |
G |
A |
11: 96,047,528 (GRCm39) |
C709Y |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,544,959 (GRCm39) |
H712R |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,564,817 (GRCm39) |
T835P |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,292 (GRCm39) |
P94S |
possibly damaging |
Het |
| Yes1 |
C |
T |
5: 32,818,112 (GRCm39) |
A383V |
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 |
|
|
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 |
|
R5122:Clstn2
|
UTSW |
9 |
97,343,474 (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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation