Incidental Mutation 'R9443:Clstn3'
| ID |
713740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124428358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 465
(G465S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: G465S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: G465S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CA
|
50 |
143 |
2.72e-12 |
SMART |
|
CA
|
166 |
244 |
4.04e-2 |
SMART |
|
SCOP:d1a8d_1
|
333 |
549 |
7e-23 |
SMART |
|
transmembrane domain
|
846 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112523
AA Change: G428S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: G428S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
13 |
106 |
2.72e-12 |
SMART |
|
CA
|
129 |
207 |
4.04e-2 |
SMART |
|
Pfam:Laminin_G_3
|
304 |
505 |
4.1e-8 |
PFAM |
|
transmembrane domain
|
809 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
908 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reductions in excitatory and inhibitory synapse density and deficits in synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,146,140 (GRCm39) |
Y503H |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,338,550 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,879,859 (GRCm39) |
D337G |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,189,587 (GRCm39) |
T448M |
probably damaging |
Het |
| Aqp6 |
T |
C |
15: 99,499,409 (GRCm39) |
S41P |
|
Het |
| Atad5 |
T |
G |
11: 80,023,388 (GRCm39) |
V1500G |
probably benign |
Het |
| B3galt9 |
C |
T |
2: 34,728,623 (GRCm39) |
Q141* |
probably null |
Het |
| Btbd18 |
T |
A |
2: 84,497,524 (GRCm39) |
D387E |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,969,720 (GRCm39) |
N605D |
possibly damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,728,355 (GRCm39) |
V102I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,609 (GRCm39) |
D2405E |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,195,023 (GRCm39) |
D2249G |
|
Het |
| Chrm1 |
A |
T |
19: 8,655,550 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,785,059 (GRCm39) |
G262D |
unknown |
Het |
| Copg2 |
T |
C |
6: 30,750,578 (GRCm39) |
T736A |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,333,080 (GRCm39) |
E435G |
probably benign |
Het |
| Cp |
A |
T |
3: 20,033,083 (GRCm39) |
I637F |
possibly damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,411 (GRCm39) |
F239L |
probably damaging |
Het |
| Cstdc2 |
C |
T |
2: 148,689,878 (GRCm39) |
E92K |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,041 (GRCm39) |
Y679* |
probably null |
Het |
| Dhx8 |
T |
C |
11: 101,655,740 (GRCm39) |
Y1158H |
probably damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Elp6 |
T |
A |
9: 110,150,004 (GRCm39) |
V265D |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,640 (GRCm39) |
T562A |
|
Het |
| Fam187b |
A |
T |
7: 30,677,067 (GRCm39) |
E192V |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,671 (GRCm39) |
T320A |
probably benign |
Het |
| Gga1 |
C |
T |
15: 78,765,247 (GRCm39) |
T18I |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,571,037 (GRCm39) |
M223L |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,700,352 (GRCm39) |
N594S |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,324,523 (GRCm39) |
F1235C |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,523,765 (GRCm39) |
S484P |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,515,045 (GRCm39) |
S2933P |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,843,522 (GRCm39) |
H475L |
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,826 (GRCm39) |
L292P |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,668 (GRCm39) |
Q3031L |
probably benign |
Het |
| Mbd5 |
T |
G |
2: 49,146,712 (GRCm39) |
S307R |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,604,029 (GRCm39) |
F388L |
probably benign |
Het |
| Mmp11 |
A |
G |
10: 75,762,733 (GRCm39) |
F240S |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,318,964 (GRCm39) |
F949I |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,973,821 (GRCm39) |
L1113P |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,057,614 (GRCm39) |
A454S |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,591 (GRCm39) |
L194P |
probably damaging |
Het |
| Or56b2j |
T |
C |
7: 104,352,821 (GRCm39) |
S16P |
probably benign |
Het |
| Or5d46 |
T |
A |
2: 88,170,364 (GRCm39) |
W152R |
probably damaging |
Het |
| Osbpl1a |
C |
A |
18: 13,031,244 (GRCm39) |
D329Y |
probably benign |
Het |
| Pcdh1 |
C |
A |
18: 38,330,633 (GRCm39) |
R929L |
probably damaging |
Het |
| Phactr2 |
C |
T |
10: 13,122,841 (GRCm39) |
R427K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,153,184 (GRCm39) |
Y670H |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,611,555 (GRCm39) |
N241Y |
probably damaging |
Het |
| Pmvk |
C |
A |
3: 89,374,956 (GRCm39) |
Q139K |
probably benign |
Het |
| Pramel30 |
T |
A |
4: 144,059,678 (GRCm39) |
I463N |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,967,523 (GRCm39) |
C136S |
probably damaging |
Het |
| Rcor3 |
A |
G |
1: 191,786,050 (GRCm39) |
V396A |
probably damaging |
Het |
| Rgs20 |
C |
A |
1: 4,982,629 (GRCm39) |
E147* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,540,777 (GRCm39) |
L170F |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,395,553 (GRCm39) |
T164A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,266,288 (GRCm39) |
Q210R |
probably benign |
Het |
| Slc52a3 |
A |
T |
2: 151,846,299 (GRCm39) |
I87F |
probably benign |
Het |
| Sntn |
A |
T |
14: 13,682,364 (GRCm38) |
M146L |
|
Het |
| Svep1 |
C |
T |
4: 58,179,697 (GRCm39) |
R182H |
possibly damaging |
Het |
| Taar7f |
A |
G |
10: 23,926,311 (GRCm39) |
I302V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,746,090 (GRCm39) |
I17V |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,836,748 (GRCm39) |
T270A |
probably benign |
Het |
| Trpm5 |
C |
T |
7: 142,638,860 (GRCm39) |
E304K |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,809,863 (GRCm39) |
D311G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,035 (GRCm39) |
F608I |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,195,159 (GRCm39) |
C722* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,853,407 (GRCm39) |
T36A |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,188 (GRCm39) |
P261L |
|
Het |
| Zfp101 |
C |
T |
17: 33,601,418 (GRCm39) |
V113I |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,249 (GRCm39) |
S50P |
probably benign |
Het |
| Zfp319 |
A |
T |
8: 96,054,922 (GRCm39) |
F427Y |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,347 (GRCm39) |
S497P |
possibly damaging |
Het |
|
| Other mutations in Clstn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Clstn3
|
APN |
6 |
124,439,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Clstn3
|
APN |
6 |
124,415,781 (GRCm39) |
nonsense |
probably null |
|
|
IGL01521:Clstn3
|
APN |
6 |
124,434,990 (GRCm39) |
nonsense |
probably null |
|
|
IGL01537:Clstn3
|
APN |
6 |
124,408,559 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01729:Clstn3
|
APN |
6 |
124,426,753 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01879:Clstn3
|
APN |
6 |
124,415,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Clstn3
|
APN |
6 |
124,435,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Clstn3
|
APN |
6 |
124,436,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03405:Clstn3
|
APN |
6 |
124,415,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4403001:Clstn3
|
UTSW |
6 |
124,434,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Clstn3
|
UTSW |
6 |
124,436,812 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0049:Clstn3
|
UTSW |
6 |
124,436,812 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0208:Clstn3
|
UTSW |
6 |
124,409,128 (GRCm39) |
splice site |
probably benign |
|
|
R0276:Clstn3
|
UTSW |
6 |
124,408,699 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Clstn3
|
UTSW |
6 |
124,428,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Clstn3
|
UTSW |
6 |
124,426,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1200:Clstn3
|
UTSW |
6 |
124,436,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Clstn3
|
UTSW |
6 |
124,434,878 (GRCm39) |
missense |
probably benign |
|
|
R1378:Clstn3
|
UTSW |
6 |
124,415,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Clstn3
|
UTSW |
6 |
124,414,449 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1495:Clstn3
|
UTSW |
6 |
124,426,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1511:Clstn3
|
UTSW |
6 |
124,439,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Clstn3
|
UTSW |
6 |
124,414,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Clstn3
|
UTSW |
6 |
124,408,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1734:Clstn3
|
UTSW |
6 |
124,413,773 (GRCm39) |
splice site |
probably benign |
|
|
R1751:Clstn3
|
UTSW |
6 |
124,408,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Clstn3
|
UTSW |
6 |
124,436,257 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2133:Clstn3
|
UTSW |
6 |
124,426,462 (GRCm39) |
missense |
probably benign |
|
|
R2192:Clstn3
|
UTSW |
6 |
124,436,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Clstn3
|
UTSW |
6 |
124,427,676 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2874:Clstn3
|
UTSW |
6 |
124,415,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Clstn3
|
UTSW |
6 |
124,408,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3761:Clstn3
|
UTSW |
6 |
124,434,835 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3878:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3927:Clstn3
|
UTSW |
6 |
124,428,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3935:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4063:Clstn3
|
UTSW |
6 |
124,426,792 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4402:Clstn3
|
UTSW |
6 |
124,433,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4534:Clstn3
|
UTSW |
6 |
124,436,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Clstn3
|
UTSW |
6 |
124,414,331 (GRCm39) |
splice site |
probably null |
|
|
R4834:Clstn3
|
UTSW |
6 |
124,408,912 (GRCm39) |
splice site |
probably null |
|
|
R5921:Clstn3
|
UTSW |
6 |
124,408,539 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5932:Clstn3
|
UTSW |
6 |
124,415,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6025:Clstn3
|
UTSW |
6 |
124,408,623 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6101:Clstn3
|
UTSW |
6 |
124,438,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Clstn3
|
UTSW |
6 |
124,415,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6578:Clstn3
|
UTSW |
6 |
124,427,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6813:Clstn3
|
UTSW |
6 |
124,413,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7380:Clstn3
|
UTSW |
6 |
124,433,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7419:Clstn3
|
UTSW |
6 |
124,435,088 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7625:Clstn3
|
UTSW |
6 |
124,414,377 (GRCm39) |
nonsense |
probably null |
|
|
R7780:Clstn3
|
UTSW |
6 |
124,439,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7936:Clstn3
|
UTSW |
6 |
124,408,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7939:Clstn3
|
UTSW |
6 |
124,439,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Clstn3
|
UTSW |
6 |
124,408,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8079:Clstn3
|
UTSW |
6 |
124,436,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Clstn3
|
UTSW |
6 |
124,435,683 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8299:Clstn3
|
UTSW |
6 |
124,414,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8406:Clstn3
|
UTSW |
6 |
124,439,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Clstn3
|
UTSW |
6 |
124,433,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Clstn3
|
UTSW |
6 |
124,408,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9209:Clstn3
|
UTSW |
6 |
124,408,571 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9264:Clstn3
|
UTSW |
6 |
124,436,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Clstn3
|
UTSW |
6 |
124,433,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF014:Clstn3
|
UTSW |
6 |
124,436,225 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Clstn3
|
UTSW |
6 |
124,426,770 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Clstn3
|
UTSW |
6 |
124,436,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clstn3
|
UTSW |
6 |
124,426,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCTATACAGAGAGGCAGC -3'
(R):5'- TCCTTGAGCAGAGTAGGCAG -3'
Sequencing Primer
(F):5'- TGCAGAGGGGCAGGCTG -3'
(R):5'- AGCAGAGTAGGCAGCCCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation