Incidental Mutation 'R9209:Clstn3'
ID |
698707 |
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 # |
R9209 (G1)
|
Quality Score |
203.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124408571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 951
(S951G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
AlphaFold |
Q99JH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008297
AA Change: S951G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153 AA Change: S951G
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 benign
Transcript: ENSMUST00000112523
AA Change: S914G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153 AA Change: S914G
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
96% (73/76) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,837 (GRCm39) |
N513K |
possibly damaging |
Het |
Actl6a |
T |
A |
3: 32,779,469 (GRCm39) |
I399N |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,666,971 (GRCm39) |
V507A |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,554,918 (GRCm39) |
V469A |
probably benign |
Het |
Arhgef4 |
G |
T |
1: 34,764,241 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
T |
1: 34,849,576 (GRCm39) |
Q389L |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
Azin2 |
T |
C |
4: 128,841,341 (GRCm39) |
E275G |
probably damaging |
Het |
Bhlhe23 |
A |
G |
2: 180,418,143 (GRCm39) |
S132P |
probably damaging |
Het |
Capn12 |
A |
G |
7: 28,581,243 (GRCm39) |
Y32C |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,321,349 (GRCm39) |
S488T |
probably benign |
Het |
Cenpx |
A |
G |
11: 120,602,582 (GRCm39) |
V27A |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,778,005 (GRCm39) |
P760L |
probably benign |
Het |
Clybl |
C |
A |
14: 122,621,670 (GRCm39) |
P286Q |
probably benign |
Het |
Cmya5 |
T |
A |
13: 93,226,866 (GRCm39) |
M2741L |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 47,026,183 (GRCm39) |
G944E |
probably damaging |
Het |
Col8a1 |
A |
C |
16: 57,447,283 (GRCm39) |
Y742* |
probably null |
Het |
Crb1 |
T |
C |
1: 139,171,051 (GRCm39) |
K780E |
probably damaging |
Het |
Crygc |
T |
A |
1: 65,112,376 (GRCm39) |
Y66F |
probably benign |
Het |
Cyp2b9 |
G |
A |
7: 25,873,004 (GRCm39) |
G49E |
possibly damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,041,090 (GRCm39) |
S171P |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,378,895 (GRCm39) |
I890V |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,512,765 (GRCm39) |
G148S |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,781,175 (GRCm39) |
S619Y |
probably damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,252 (GRCm39) |
L319* |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,361,356 (GRCm39) |
S113G |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,404,791 (GRCm39) |
D514G |
possibly damaging |
Het |
Fbxo16 |
G |
A |
14: 65,524,594 (GRCm39) |
R38Q |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,092,706 (GRCm39) |
M668K |
unknown |
Het |
Gpr149 |
C |
T |
3: 62,511,093 (GRCm39) |
S302N |
probably benign |
Het |
Gsap |
A |
G |
5: 21,433,064 (GRCm39) |
K258E |
probably benign |
Het |
Helq |
C |
A |
5: 100,939,218 (GRCm39) |
V443F |
probably benign |
Het |
Helq |
T |
A |
5: 100,939,219 (GRCm39) |
K442N |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,123 (GRCm39) |
E29G |
possibly damaging |
Het |
Ighv1-9 |
C |
A |
12: 114,547,620 (GRCm39) |
M1I |
probably null |
Het |
Itga6 |
T |
G |
2: 71,671,477 (GRCm39) |
F743V |
probably benign |
Het |
Lpin1 |
C |
A |
12: 16,588,548 (GRCm39) |
D881Y |
|
Het |
Lypd8 |
T |
A |
11: 58,273,640 (GRCm39) |
C40S |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,326,227 (GRCm39) |
R5092Q |
probably damaging |
Het |
Mcm7 |
A |
G |
5: 138,166,593 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
A |
5: 139,696,170 (GRCm39) |
T831I |
unknown |
Het |
Myo18b |
A |
T |
5: 113,022,927 (GRCm39) |
M155K |
unknown |
Het |
Nckap5 |
T |
A |
1: 125,867,928 (GRCm39) |
H201L |
unknown |
Het |
Ndst2 |
A |
T |
14: 20,779,240 (GRCm39) |
D333E |
possibly damaging |
Het |
Nlgn1 |
A |
G |
3: 25,966,804 (GRCm39) |
|
probably null |
Het |
Nup188 |
T |
G |
2: 30,232,397 (GRCm39) |
Y1483D |
probably benign |
Het |
Or4c109 |
A |
C |
2: 88,818,057 (GRCm39) |
L163* |
probably null |
Het |
Or52ae9 |
T |
A |
7: 103,390,319 (GRCm39) |
S43C |
probably benign |
Het |
Or52n4b |
A |
C |
7: 108,144,664 (GRCm39) |
I311L |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,526 (GRCm39) |
Y269F |
probably benign |
Het |
Or8g33 |
T |
A |
9: 39,337,635 (GRCm39) |
H244L |
probably damaging |
Het |
Peg3 |
A |
C |
7: 6,711,226 (GRCm39) |
I1332S |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,154,372 (GRCm39) |
K2469R |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,247,312 (GRCm39) |
M804V |
probably damaging |
Het |
Polq |
A |
T |
16: 36,869,011 (GRCm39) |
I794F |
possibly damaging |
Het |
Rasgef1b |
A |
G |
5: 99,370,191 (GRCm39) |
V437A |
probably benign |
Het |
Rdm1 |
T |
A |
11: 101,518,857 (GRCm39) |
D21E |
probably benign |
Het |
Ripk4 |
G |
T |
16: 97,551,311 (GRCm39) |
Q219K |
possibly damaging |
Het |
Ropn1l |
T |
C |
15: 31,441,471 (GRCm39) |
I217V |
|
Het |
Sdf2 |
T |
C |
11: 78,136,858 (GRCm39) |
S13P |
unknown |
Het |
Selenbp1 |
A |
G |
3: 94,847,079 (GRCm39) |
T202A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,850,933 (GRCm39) |
F410S |
possibly damaging |
Het |
Srrm2 |
A |
G |
17: 24,039,880 (GRCm39) |
T2175A |
probably benign |
Het |
St6galnac3 |
T |
C |
3: 153,117,360 (GRCm39) |
Y121C |
possibly damaging |
Het |
Stat1 |
A |
G |
1: 52,184,337 (GRCm39) |
N417S |
probably benign |
Het |
Tead1 |
T |
C |
7: 112,475,378 (GRCm39) |
F276L |
probably damaging |
Het |
Teddm3 |
A |
T |
16: 20,971,737 (GRCm39) |
S277R |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,103,317 (GRCm39) |
|
probably null |
Het |
Tmem156 |
G |
A |
5: 65,231,127 (GRCm39) |
L248F |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,953,986 (GRCm39) |
S590G |
probably benign |
Het |
Trmt44 |
A |
G |
5: 35,731,422 (GRCm39) |
|
probably null |
Het |
Upp2 |
T |
A |
2: 58,668,022 (GRCm39) |
Y238* |
probably null |
Het |
Usp32 |
T |
C |
11: 84,930,838 (GRCm39) |
T531A |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,569,431 (GRCm39) |
D108V |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 102,078,830 (GRCm39) |
A824E |
probably benign |
Het |
Xylt1 |
T |
C |
7: 117,255,870 (GRCm39) |
V814A |
probably benign |
Het |
Zfy1 |
C |
T |
Y: 732,990 (GRCm39) |
R281H |
unknown |
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 |
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 |
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'- AGTATGCTGCCACAGGTAGG -3'
(R):5'- CAATGGCGCATGCTTGTGTG -3'
Sequencing Primer
(F):5'- TGCCACAGGTAGGCTACAG -3'
(R):5'- CTCAAGGAGAGGTTCTGCC -3'
|
Posted On |
2022-02-07 |