Incidental Mutation 'R5076:Clstn2'
| ID |
395777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn2
|
| Ensembl Gene |
ENSMUSG00000032452 |
| Gene Name |
calsyntenin 2 |
| Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
| MMRRC Submission |
042665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97365132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 458
(Y458C)
|
| 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: Y458C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: Y458C
| 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: Y458C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: Y458C
| 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 |
|
| Meta Mutation Damage Score |
0.2151 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.0%
|
| Validation Efficiency |
97% (66/68) |
| 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 |
|---|
| 4933434E20Rik |
A |
G |
3: 89,963,559 (GRCm39) |
I72V |
probably benign |
Het |
| Aadacl3 |
G |
A |
4: 144,182,640 (GRCm39) |
P276L |
possibly damaging |
Het |
| Acp6 |
T |
A |
3: 97,075,305 (GRCm39) |
S180T |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,221,053 (GRCm39) |
R449* |
probably null |
Het |
| Ak1 |
T |
C |
2: 32,523,460 (GRCm39) |
V176A |
probably damaging |
Het |
| Capzb |
A |
T |
4: 139,015,125 (GRCm39) |
D226V |
possibly damaging |
Het |
| Cd34 |
A |
T |
1: 194,630,338 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
C |
A |
8: 123,591,087 (GRCm39) |
D445E |
possibly damaging |
Het |
| Chil4 |
A |
G |
3: 106,109,913 (GRCm39) |
F367L |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,944,696 (GRCm39) |
I82M |
probably benign |
Het |
| Ctsw |
T |
C |
19: 5,518,486 (GRCm39) |
Y9C |
probably benign |
Het |
| Dhrs7 |
T |
C |
12: 72,706,255 (GRCm39) |
D50G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,584,799 (GRCm39) |
K3177E |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,327,251 (GRCm39) |
F83L |
probably benign |
Het |
| Eif5a2 |
G |
A |
3: 28,836,886 (GRCm39) |
V59I |
possibly damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,238 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,975,066 (GRCm39) |
S426G |
possibly damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,040,984 (GRCm39) |
G493D |
probably damaging |
Het |
| Gm11596 |
C |
T |
11: 99,683,698 (GRCm39) |
G141R |
unknown |
Het |
| Gpi-ps |
T |
G |
8: 5,690,130 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q4 |
T |
C |
17: 35,599,417 (GRCm39) |
Y167H |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,382,490 (GRCm39) |
|
probably null |
Het |
| Kif2c |
A |
T |
4: 117,032,066 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,096,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,294 (GRCm39) |
T332S |
unknown |
Het |
| Lrrc39 |
A |
T |
3: 116,373,189 (GRCm39) |
E283V |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,069,528 (GRCm39) |
S447P |
possibly damaging |
Het |
| Mindy1 |
G |
A |
3: 95,202,710 (GRCm39) |
V425M |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Muc3a |
T |
A |
5: 137,244,997 (GRCm39) |
T159S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,642 (GRCm39) |
I295F |
probably damaging |
Het |
| Or4a79 |
T |
A |
2: 89,551,745 (GRCm39) |
T237S |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,937 (GRCm39) |
M198K |
probably damaging |
Het |
| Pcdhga4 |
G |
A |
18: 37,818,648 (GRCm39) |
V66I |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,422 (GRCm39) |
T203A |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,789,929 (GRCm39) |
|
probably null |
Het |
| Pdxk |
G |
T |
10: 78,286,141 (GRCm39) |
Q103K |
probably benign |
Het |
| Peg3 |
A |
G |
7: 6,711,419 (GRCm39) |
C1268R |
probably damaging |
Het |
| Pitpnc1 |
A |
T |
11: 107,187,093 (GRCm39) |
S77T |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,874,990 (GRCm39) |
|
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,943,703 (GRCm39) |
T22I |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,060,001 (GRCm39) |
R604W |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,680 (GRCm39) |
F189S |
probably damaging |
Het |
| Rbks |
T |
A |
5: 31,807,795 (GRCm39) |
Y99* |
probably null |
Het |
| Sh3rf2 |
G |
T |
18: 42,186,989 (GRCm39) |
C36F |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,889 (GRCm39) |
N303K |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,626,357 (GRCm39) |
V1198I |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,606,401 (GRCm39) |
T518A |
probably benign |
Het |
| Tmem163 |
A |
T |
1: 127,428,013 (GRCm39) |
V191D |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,094 (GRCm39) |
V76A |
probably damaging |
Het |
| Ube2nl |
A |
G |
7: 61,199,280 (GRCm39) |
|
noncoding transcript |
Het |
| Unc5d |
C |
T |
8: 29,184,704 (GRCm39) |
V599M |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,346 (GRCm39) |
M31L |
probably benign |
Het |
| Vrtn |
C |
A |
12: 84,696,248 (GRCm39) |
Q333K |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,298,008 (GRCm39) |
F163I |
possibly damaging |
Het |
| Zfyve1 |
C |
T |
12: 83,602,421 (GRCm39) |
R458H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGATAGCACACAGAGTTG -3'
(R):5'- TCATTGTGTCTGATAACCTCGATG -3'
Sequencing Primer
(F):5'- CACAGAGTTGAAAGAGGGCTCTACTC -3'
(R):5'- ACCTCGATGTGTAATATAGTCAAAAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation