Incidental Mutation 'R9751:Clstn2'
| ID |
732522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn2
|
| Ensembl Gene |
ENSMUSG00000032452 |
| Gene Name |
calsyntenin 2 |
| Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9751 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97339703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 756
(L756P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
| AlphaFold |
Q9ER65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035027
AA Change: L756P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: L756P
| 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: L756P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: L756P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,881,126 (GRCm39) |
N514D |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,757,101 (GRCm39) |
R786H |
probably null |
Het |
| Ankrd7 |
G |
A |
6: 18,868,024 (GRCm39) |
V97I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,889 (GRCm39) |
I54M |
|
Het |
| Bmper |
C |
T |
9: 23,318,009 (GRCm39) |
P543S |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,795,015 (GRCm39) |
M2233K |
possibly damaging |
Het |
| C1s2 |
G |
T |
6: 124,602,553 (GRCm39) |
P553T |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,823,438 (GRCm39) |
V497I |
possibly damaging |
Het |
| Cacng4 |
A |
G |
11: 107,626,019 (GRCm39) |
S191P |
probably damaging |
Het |
| Cd109 |
C |
A |
9: 78,605,442 (GRCm39) |
T1015K |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,377,887 (GRCm39) |
D1122E |
possibly damaging |
Het |
| Csf2 |
A |
T |
11: 54,140,420 (GRCm39) |
L6* |
probably null |
Het |
| Csnk1g2 |
T |
A |
10: 80,473,745 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 90,564,731 (GRCm39) |
H116N |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,619,610 (GRCm39) |
S3978L |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,960,453 (GRCm39) |
T328I |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,205,403 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,783,911 (GRCm39) |
G2754E |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,538 (GRCm39) |
V26F |
probably damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,526 (GRCm39) |
N11S |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,565,992 (GRCm39) |
Y414F |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,818,241 (GRCm39) |
I4658T |
probably benign |
Het |
| Hycc1 |
C |
T |
5: 24,196,748 (GRCm39) |
E47K |
probably benign |
Het |
| Igflr1 |
A |
T |
7: 30,266,653 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,979,168 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
A |
G |
14: 56,297,511 (GRCm39) |
I215T |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,189,984 (GRCm39) |
Y975C |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,419 (GRCm39) |
Y678* |
probably null |
Het |
| Myof |
T |
C |
19: 37,924,818 (GRCm39) |
T1190A |
probably benign |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,195 (GRCm39) |
V796A |
probably damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,956 (GRCm39) |
T262I |
probably benign |
Het |
| Or4c119 |
C |
T |
2: 88,986,782 (GRCm39) |
V246M |
possibly damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,614 (GRCm39) |
I250L |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,260 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,945,645 (GRCm39) |
Y181C |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,824,188 (GRCm39) |
S515P |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,165,436 (GRCm39) |
V257A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,717,414 (GRCm39) |
S1401F |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,777,964 (GRCm39) |
K1043E |
probably benign |
Het |
| Rtn4rl2 |
T |
G |
2: 84,711,039 (GRCm39) |
N75T |
probably damaging |
Het |
| Slc35f4 |
A |
G |
14: 49,536,291 (GRCm39) |
I448T |
possibly damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,918 (GRCm39) |
I11T |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,680 (GRCm39) |
V351A |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,971,570 (GRCm39) |
D195E |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,021,564 (GRCm39) |
A90S |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,765 (GRCm39) |
V1100I |
possibly damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
| Ube2g2 |
G |
A |
10: 77,480,307 (GRCm39) |
V138I |
probably benign |
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 |
|
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 |
|
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'- CTCTGAACGAATGTGGGAATGG -3'
(R):5'- AGCCTGTGGGTAAATTGCCC -3'
Sequencing Primer
(F):5'- GAATGGCCAGGTGGGTC -3'
(R):5'- TGGGTAAATTGCCCCCATAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation