Incidental Mutation 'R9264:Clstn3'
| ID |
702421 |
| 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 # |
R9264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124436727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 197
(D197V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: D197V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: D197V
| 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: D160V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: D160V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150774
|
| SMART Domains |
Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
13 |
64 |
4e-31 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 120,001,056 (GRCm39) |
I1531L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,844,914 (GRCm39) |
Y791C |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,229,187 (GRCm39) |
I262N |
probably damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,397,613 (GRCm39) |
N1033K |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,333,878 (GRCm39) |
V310A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,951,830 (GRCm39) |
Y325C |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,005,809 (GRCm39) |
I1647T |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cspg4b |
G |
A |
13: 113,456,014 (GRCm39) |
V687M |
|
Het |
| Cyp4a10 |
T |
C |
4: 115,381,475 (GRCm39) |
S180P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,173 (GRCm39) |
I1336V |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,177,784 (GRCm39) |
V946M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,813,900 (GRCm39) |
R347G |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,262 (GRCm39) |
D2368V |
probably damaging |
Het |
| Ganab |
T |
C |
19: 8,890,228 (GRCm39) |
I719T |
possibly damaging |
Het |
| Gm10944 |
C |
A |
10: 10,557,583 (GRCm39) |
A11D |
unknown |
Het |
| Gmcl1 |
T |
C |
6: 86,691,195 (GRCm39) |
M267V |
probably benign |
Het |
| Inhbe |
T |
A |
10: 127,186,427 (GRCm39) |
D251V |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,654 (GRCm39) |
R26Q |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,271 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,494,912 (GRCm39) |
D251E |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,028,344 (GRCm39) |
I416N |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,560,057 (GRCm39) |
N772S |
probably damaging |
Het |
| Ms4a20 |
T |
A |
19: 11,093,830 (GRCm39) |
M1L |
probably benign |
Het |
| Msh3 |
G |
T |
13: 92,485,812 (GRCm39) |
Q171K |
probably benign |
Het |
| Mslnl |
T |
G |
17: 25,961,506 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,489,176 (GRCm39) |
L116P |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,454 (GRCm39) |
T1351A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,274,998 (GRCm39) |
I353N |
probably damaging |
Het |
| Nprl3 |
A |
T |
11: 32,183,948 (GRCm39) |
N500K |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,019,348 (GRCm39) |
I181N |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,978 (GRCm39) |
I41V |
probably benign |
Het |
| Or1b1 |
G |
A |
2: 36,994,801 (GRCm39) |
T287I |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,776 (GRCm39) |
H152R |
probably damaging |
Het |
| Pcdh7 |
C |
A |
5: 58,286,663 (GRCm39) |
N1246K |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,166 (GRCm39) |
D377E |
probably benign |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,520,899 (GRCm39) |
T587A |
probably benign |
Het |
| Pramel1 |
T |
G |
4: 143,125,099 (GRCm39) |
L341R |
probably damaging |
Het |
| Rhot2 |
A |
T |
17: 26,060,740 (GRCm39) |
N210K |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,519,459 (GRCm39) |
I12V |
probably benign |
Het |
| Spmip7 |
T |
A |
11: 11,414,678 (GRCm39) |
D141E |
|
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,955 (GRCm39) |
V511A |
probably benign |
Het |
| Stfa1 |
G |
A |
16: 36,100,930 (GRCm39) |
V57I |
unknown |
Het |
| Syne1 |
T |
G |
10: 5,212,793 (GRCm39) |
R3265S |
probably damaging |
Het |
| Tacc2 |
G |
T |
7: 130,228,533 (GRCm39) |
K1739N |
probably damaging |
Het |
| Tas2r143 |
A |
T |
6: 42,377,673 (GRCm39) |
M168L |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,031 (GRCm39) |
|
probably null |
Het |
| Ttc16 |
A |
G |
2: 32,653,017 (GRCm39) |
I604T |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,393 (GRCm39) |
W64R |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,439,064 (GRCm39) |
H3561L |
|
Het |
| Vasp |
C |
T |
7: 18,993,376 (GRCm39) |
V276I |
unknown |
Het |
| Vwa3a |
A |
G |
7: 120,374,687 (GRCm39) |
N333S |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,460,866 (GRCm39) |
N105D |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,942,663 (GRCm39) |
S613P |
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 |
|
R9268:Clstn3
|
UTSW |
6 |
124,433,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9443:Clstn3
|
UTSW |
6 |
124,428,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCAGGAAGGCATGAGTATACTTG -3'
(R):5'- CGTGCATGTTCGGGTCAATG -3'
Sequencing Primer
(F):5'- GGCATGAGTATACTTGGCACATAC -3'
(R):5'- CAATGATGTGAATGAGTTTGCCCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation