Incidental Mutation 'R9190:Clstn2'
| ID |
697692 |
| 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 # |
R9190 (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 G
at 97414815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 360
(F360L)
|
| 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: F360L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: F360L
| 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: F360L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: F360L
| 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 |
0.7170 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,642,880 (GRCm39) |
T183I |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,241,886 (GRCm39) |
S1250T |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,336,446 (GRCm39) |
S1510R |
probably benign |
Het |
| Adcy5 |
T |
A |
16: 35,089,364 (GRCm39) |
C520* |
probably null |
Het |
| Arhgap21 |
A |
T |
2: 20,858,983 (GRCm39) |
M1237K |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,225,607 (GRCm39) |
N541I |
probably damaging |
Het |
| Bbs12 |
G |
T |
3: 37,375,223 (GRCm39) |
R557L |
probably damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,200 (GRCm39) |
T183A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,081,274 (GRCm39) |
S192P |
probably damaging |
Het |
| Calhm3 |
G |
A |
19: 47,146,121 (GRCm39) |
A28V |
probably benign |
Het |
| Ccdc113 |
A |
G |
8: 96,263,101 (GRCm39) |
N37S |
probably damaging |
Het |
| Cdh5 |
T |
G |
8: 104,867,337 (GRCm39) |
V538G |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,726,293 (GRCm39) |
E1639G |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,796,599 (GRCm39) |
V203I |
probably benign |
Het |
| Cnst |
GTGACACGCTTG |
GTG |
1: 179,407,039 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,260,058 (GRCm39) |
Y234H |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,244,495 (GRCm39) |
S44G |
probably benign |
Het |
| Dync2i2 |
G |
T |
2: 29,922,211 (GRCm39) |
H417N |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,492,988 (GRCm39) |
E530G |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,058 (GRCm39) |
|
probably null |
Het |
| Foxj3 |
T |
A |
4: 119,477,538 (GRCm39) |
C449* |
probably null |
Het |
| Fsbp |
G |
C |
4: 11,584,005 (GRCm39) |
V235L |
probably benign |
Het |
| Fuom |
T |
C |
7: 139,681,252 (GRCm39) |
E73G |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,645 (GRCm39) |
H667R |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,756,028 (GRCm39) |
I361T |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,749,896 (GRCm39) |
V2599E |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,111,514 (GRCm39) |
M2255K |
|
Het |
| Litafd |
C |
A |
16: 8,501,647 (GRCm39) |
P50T |
|
Het |
| Lrrc32 |
A |
G |
7: 98,148,234 (GRCm39) |
H338R |
probably benign |
Het |
| Map1b |
C |
A |
13: 99,571,914 (GRCm39) |
R269L |
probably damaging |
Het |
| Ms4a5 |
T |
A |
19: 11,256,733 (GRCm39) |
I55F |
probably damaging |
Het |
| Muc5b |
G |
C |
7: 141,411,939 (GRCm39) |
L1628F |
unknown |
Het |
| Myo6 |
A |
G |
9: 80,195,384 (GRCm39) |
Q918R |
unknown |
Het |
| Or1e25 |
T |
A |
11: 73,493,877 (GRCm39) |
M157K |
probably benign |
Het |
| Or2t48 |
A |
G |
11: 58,420,161 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5m11b |
T |
A |
2: 85,805,884 (GRCm39) |
I99N |
possibly damaging |
Het |
| Or9i1b |
T |
G |
19: 13,896,967 (GRCm39) |
N194K |
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,157,219 (GRCm39) |
R296G |
probably damaging |
Het |
| Plin5 |
A |
G |
17: 56,419,462 (GRCm39) |
V320A |
probably damaging |
Het |
| Ptx4 |
A |
T |
17: 25,342,257 (GRCm39) |
Q244L |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,495 (GRCm39) |
T535A |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,313,117 (GRCm39) |
F1279S |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,362 (GRCm39) |
H254R |
probably damaging |
Het |
| Rida |
C |
T |
15: 34,487,909 (GRCm39) |
A69T |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,511,346 (GRCm39) |
F131L |
probably benign |
Het |
| Septin1 |
T |
C |
7: 126,816,092 (GRCm39) |
I141V |
probably benign |
Het |
| Slc10a6 |
A |
G |
5: 103,765,571 (GRCm39) |
S171P |
probably damaging |
Het |
| Slc18a1 |
A |
G |
8: 69,519,790 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,388,526 (GRCm39) |
S247P |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,187,147 (GRCm39) |
I1094K |
possibly damaging |
Het |
| Tmem234 |
C |
T |
4: 129,501,333 (GRCm39) |
S138L |
probably benign |
Het |
| Trpv1 |
T |
A |
11: 73,145,148 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,935 (GRCm39) |
M766K |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,843 (GRCm39) |
N332D |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,819,563 (GRCm39) |
I258N |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,773 (GRCm39) |
K750E |
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 |
|
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 |
|
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'- TGCAGCACCTGTTAGCTTCC -3'
(R):5'- AAGTCAGAAGGTGAACCCAC -3'
Sequencing Primer
(F):5'- TGAGCATGGCAACTCTTACG -3'
(R):5'- TGAACCCACTGCCATCCTTGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation