Incidental Mutation 'IGL01935:Clstn2'
ID |
180632 |
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 # |
IGL01935
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97345521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 609
(V609A)
|
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: V609A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035027 Gene: ENSMUSG00000032452 AA Change: V609A
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: V609A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124081 Gene: ENSMUSG00000032452 AA Change: V609A
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 |
Aebp2 |
C |
T |
6: 140,583,383 (GRCm39) |
|
probably benign |
Het |
Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
Card11 |
T |
A |
5: 140,869,301 (GRCm39) |
I832F |
possibly damaging |
Het |
Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,515,692 (GRCm39) |
F794I |
probably damaging |
Het |
Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
Zfr |
T |
C |
15: 12,180,798 (GRCm39) |
S976P |
probably benign |
Het |
Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
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 |
|
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 |
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 |
2014-05-07 |