Incidental Mutation 'R9221:Clstn2'
| ID |
699473 |
| 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 # |
R9221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97343395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 684
(T684K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
| AlphaFold |
Q9ER65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035027
AA Change: T684K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: T684K
| 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 benign
Transcript: ENSMUST00000162295
AA Change: T684K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: T684K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,921,828 (GRCm39) |
D1128G |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,368,131 (GRCm39) |
R116* |
probably null |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,989,943 (GRCm39) |
D3742E |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,818 (GRCm39) |
S598P |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,552,310 (GRCm39) |
F1351L |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,672,588 (GRCm39) |
T267I |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,209,692 (GRCm39) |
K202R |
probably benign |
Het |
| Bccip |
G |
T |
7: 133,311,249 (GRCm39) |
V55L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,988,052 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,777,430 (GRCm39) |
Y466H |
probably damaging |
Het |
| Cdc45 |
A |
C |
16: 18,605,521 (GRCm39) |
S480A |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,935,839 (GRCm39) |
Y425H |
possibly damaging |
Het |
| Cep76 |
A |
C |
18: 67,767,977 (GRCm39) |
M185R |
probably damaging |
Het |
| Chd5 |
G |
T |
4: 152,456,122 (GRCm39) |
M930I |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,491,943 (GRCm39) |
N1270S |
possibly damaging |
Het |
| Crxos |
A |
G |
7: 15,636,850 (GRCm39) |
H141R |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,433 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ddx20 |
A |
T |
3: 105,587,685 (GRCm39) |
C430* |
probably null |
Het |
| Dgki |
G |
A |
6: 37,273,615 (GRCm39) |
T12M |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,721,153 (GRCm39) |
N1676S |
possibly damaging |
Het |
| Exosc6 |
G |
A |
8: 111,783,028 (GRCm39) |
R9H |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,569,114 (GRCm39) |
Q589R |
probably damaging |
Het |
| Gm4846 |
T |
A |
1: 166,324,959 (GRCm39) |
Y44F |
probably benign |
Het |
| Gpr15lg |
A |
G |
14: 36,829,352 (GRCm39) |
S44P |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,326,401 (GRCm39) |
I370R |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,287,726 (GRCm39) |
M3696V |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,166,695 (GRCm39) |
C167* |
probably null |
Het |
| Khdc4 |
T |
C |
3: 88,593,853 (GRCm39) |
S81P |
probably benign |
Het |
| Kpna2 |
A |
G |
11: 106,880,158 (GRCm39) |
S497P |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,774,064 (GRCm39) |
T197S |
probably damaging |
Het |
| Krtap6-5 |
T |
C |
16: 88,844,655 (GRCm39) |
Y26C |
unknown |
Het |
| Lhfpl5 |
A |
T |
17: 28,799,133 (GRCm39) |
D214V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,596 (GRCm39) |
E351G |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,403,427 (GRCm39) |
V867A |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,879 (GRCm39) |
M1529L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,132,626 (GRCm39) |
Q268L |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,565,744 (GRCm39) |
N360K |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
A |
T |
11: 73,738,108 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,255 (GRCm39) |
S229G |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,336 (GRCm39) |
M285K |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,185 (GRCm39) |
Y259* |
probably null |
Het |
| P2rx5 |
A |
T |
11: 73,062,655 (GRCm39) |
T455S |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,969,591 (GRCm39) |
F1244L |
unknown |
Het |
| Pbld1 |
A |
G |
10: 62,907,829 (GRCm39) |
T125A |
|
Het |
| Pde3b |
G |
A |
7: 114,014,697 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,019,188 (GRCm39) |
S180P |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,100,453 (GRCm39) |
R626S |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,282,515 (GRCm39) |
E492G |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,818 (GRCm39) |
D237G |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,604 (GRCm39) |
H105R |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,242,401 (GRCm39) |
N685S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,266 (GRCm39) |
F502S |
unknown |
Het |
| Sik1 |
T |
C |
17: 32,066,167 (GRCm39) |
I607V |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,513,470 (GRCm39) |
I464N |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,825,910 (GRCm39) |
N116S |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,181,910 (GRCm39) |
|
probably null |
Het |
| Spink5 |
T |
C |
18: 44,119,367 (GRCm39) |
L226P |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,034,754 (GRCm39) |
V180I |
probably benign |
Het |
| Tacc2 |
T |
G |
7: 130,226,058 (GRCm39) |
S914R |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,226,209 (GRCm39) |
R965C |
probably benign |
Het |
| Tlr9 |
A |
G |
9: 106,101,972 (GRCm39) |
D421G |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,307,265 (GRCm39) |
L16P |
probably damaging |
Het |
| Trim58 |
A |
T |
11: 58,542,075 (GRCm39) |
H345L |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,290 (GRCm39) |
R688C |
probably benign |
Het |
| Ube2o |
C |
A |
11: 116,433,664 (GRCm39) |
V685L |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,335,173 (GRCm39) |
H511R |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,721 (GRCm39) |
Y282* |
probably null |
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 |
|
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'- TTTCACTTGCCACACAGCAC -3'
(R):5'- TCTTACAGGCCATTGAGCC -3'
Sequencing Primer
(F):5'- TGCTACTAACATGGGTGTCTTAC -3'
(R):5'- AGGCCATTGAGCCCCAGATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation