Incidental Mutation 'PIT4403001:Clstn3'
ID |
555466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn3
|
Ensembl Gene |
ENSMUSG00000008153 |
Gene Name |
calsyntenin 3 |
Synonyms |
Cst-3, CSTN3, alcadein-beta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4403001 (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 124434982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 348
(G348D)
|
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: G348D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153 AA Change: G348D
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: G311D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153 AA Change: G311D
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: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,784,099 (GRCm39) |
Q607L |
possibly damaging |
Het |
Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
Rbm5 |
A |
G |
9: 107,637,535 (GRCm39) |
M132T |
probably damaging |
Het |
Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
Slc24a2 |
A |
G |
4: 86,950,523 (GRCm39) |
F425L |
probably benign |
Het |
Smarcc2 |
A |
T |
10: 128,298,893 (GRCm39) |
H92L |
probably damaging |
Het |
Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
probably damaging |
Het |
Zp3r |
T |
A |
1: 130,510,609 (GRCm39) |
N436I |
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 |
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 |
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'- AGCACAAGGAACCAGTGTCC -3'
(R):5'- AGAGGAGATGAATTGTTTCCTTTCC -3'
Sequencing Primer
(F):5'- CAGGTTAGGGCTCACCATTCTG -3'
(R):5'- GAGATGAATTGTTTCCTTTCCATCTC -3'
|
Posted On |
2019-06-07 |