Incidental Mutation 'R6902:Clstn2'
ID |
538603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn2
|
Ensembl Gene |
ENSMUSG00000032452 |
Gene Name |
calsyntenin 2 |
Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
MMRRC Submission |
045032-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6902 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97351875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 517
(F517I)
|
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: F517I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035027 Gene: ENSMUSG00000032452 AA Change: F517I
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: F517I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124081 Gene: ENSMUSG00000032452 AA Change: F517I
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: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
G |
13: 119,624,680 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,837,434 (GRCm39) |
S773R |
probably damaging |
Het |
Alkbh5 |
G |
A |
11: 60,429,381 (GRCm39) |
A45T |
probably benign |
Het |
Ankrd6 |
C |
A |
4: 32,806,419 (GRCm39) |
Q576H |
probably damaging |
Het |
Ankrd6 |
T |
A |
4: 32,806,420 (GRCm39) |
Q576L |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,804,733 (GRCm39) |
Q1250R |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,769,579 (GRCm39) |
N2539T |
probably damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Cog2 |
A |
G |
8: 125,273,430 (GRCm39) |
K590E |
probably damaging |
Het |
Coq9 |
G |
A |
8: 95,577,180 (GRCm39) |
E182K |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Focad |
C |
T |
4: 88,148,713 (GRCm39) |
R477C |
unknown |
Het |
Gja10 |
G |
T |
4: 32,601,905 (GRCm39) |
H160N |
probably damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,785,234 (GRCm39) |
T1495A |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,953,192 (GRCm39) |
S503T |
possibly damaging |
Het |
Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,653,911 (GRCm39) |
C150S |
probably damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,840,314 (GRCm39) |
N294S |
probably benign |
Het |
Lama2 |
T |
G |
10: 26,857,625 (GRCm39) |
T3075P |
probably damaging |
Het |
Lrfn1 |
T |
G |
7: 28,159,238 (GRCm39) |
C386G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,289,847 (GRCm39) |
D3664G |
probably damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,563,545 (GRCm39) |
V340M |
probably damaging |
Het |
Mrgprb3 |
T |
A |
7: 48,293,447 (GRCm39) |
I35F |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,809,756 (GRCm39) |
I613F |
possibly damaging |
Het |
Nicol1 |
G |
A |
5: 34,140,923 (GRCm39) |
|
probably benign |
Het |
Or14c43 |
T |
A |
7: 86,114,995 (GRCm39) |
C125* |
probably null |
Het |
Or51f1e |
A |
T |
7: 102,747,562 (GRCm39) |
I205F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Papolb |
T |
A |
5: 142,513,906 (GRCm39) |
H579L |
probably benign |
Het |
Pcf11 |
C |
A |
7: 92,307,507 (GRCm39) |
G887V |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,829 (GRCm39) |
S524P |
possibly damaging |
Het |
Pole3 |
T |
C |
4: 62,442,300 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,645 (GRCm39) |
V365I |
probably benign |
Het |
Shank1 |
T |
A |
7: 44,006,239 (GRCm39) |
F1985L |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,097,665 (GRCm39) |
I421V |
possibly damaging |
Het |
Slc2a6 |
C |
T |
2: 26,913,172 (GRCm39) |
V374M |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,181,078 (GRCm39) |
N293K |
possibly damaging |
Het |
Stk40 |
T |
A |
4: 126,031,605 (GRCm39) |
D366E |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,958,444 (GRCm39) |
S266P |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Vti1a |
A |
T |
19: 55,487,673 (GRCm39) |
|
probably null |
Het |
Zfp961 |
A |
G |
8: 72,722,522 (GRCm39) |
K345R |
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 |
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 |
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'- ACTCGTAAGTCAGTGGTGAGAG -3'
(R):5'- TGAGGCTGCAATATGAGCATTTG -3'
Sequencing Primer
(F):5'- AGAGAGTACTGGTGCCTTCCTTAC -3'
(R):5'- GCTGCAATATGAGCATTTGGAACC -3'
|
Posted On |
2018-11-06 |