Incidental Mutation 'R8406:Clstn3'
ID |
652414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn3
|
Ensembl Gene |
ENSMUSG00000008153 |
Gene Name |
calsyntenin 3 |
Synonyms |
Cst-3, CSTN3, alcadein-beta |
MMRRC Submission |
067765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8406 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124439136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 40
(N40K)
|
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: N40K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153 AA Change: N40K
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: N3K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153 AA Change: N3K
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 damaging
Transcript: ENSMUST00000150774
AA Change: N3K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000145422 Gene: ENSMUSG00000008153 AA Change: N3K
Domain | Start | End | E-Value | Type |
Blast:CA
|
13 |
64 |
4e-31 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,977,343 (GRCm39) |
F139L |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,343,082 (GRCm39) |
D288E |
probably benign |
Het |
Agbl1 |
A |
G |
7: 76,068,415 (GRCm39) |
E327G |
|
Het |
Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Arl3 |
A |
T |
19: 46,530,823 (GRCm39) |
S157T |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,240,365 (GRCm39) |
I41F |
probably damaging |
Het |
Atg9a |
A |
C |
1: 75,167,028 (GRCm39) |
Y8D |
probably damaging |
Het |
Atp10b |
T |
G |
11: 43,093,984 (GRCm39) |
H509Q |
probably benign |
Het |
Cabyr |
C |
A |
18: 12,883,804 (GRCm39) |
T97K |
probably benign |
Het |
Ccdc91 |
T |
C |
6: 147,438,920 (GRCm39) |
F174S |
possibly damaging |
Het |
Cep350 |
A |
T |
1: 155,798,164 (GRCm39) |
H1207Q |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,501,611 (GRCm39) |
P381S |
unknown |
Het |
Cpne5 |
A |
T |
17: 29,428,455 (GRCm39) |
F116Y |
probably benign |
Het |
Csf2rb2 |
T |
C |
15: 78,171,216 (GRCm39) |
T457A |
probably benign |
Het |
Cyb5d2 |
T |
C |
11: 72,679,959 (GRCm39) |
E112G |
probably benign |
Het |
Cyp2b13 |
T |
C |
7: 25,781,223 (GRCm39) |
F212L |
probably benign |
Het |
Dlx6 |
T |
G |
6: 6,863,779 (GRCm39) |
S134A |
probably benign |
Het |
Egln1 |
A |
G |
8: 125,638,489 (GRCm39) |
Y380H |
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,728,652 (GRCm39) |
I479N |
probably damaging |
Het |
Fhip1a |
G |
T |
3: 85,580,027 (GRCm39) |
P726Q |
probably benign |
Het |
Fis1 |
A |
G |
5: 136,991,865 (GRCm39) |
K20E |
probably benign |
Het |
Foxk1 |
G |
T |
5: 142,387,528 (GRCm39) |
V84L |
unknown |
Het |
Gdf5 |
C |
A |
2: 155,784,272 (GRCm39) |
G227W |
probably damaging |
Het |
Ghrh |
T |
A |
2: 157,175,656 (GRCm39) |
T13S |
probably benign |
Het |
Gnb2 |
A |
G |
5: 137,526,865 (GRCm39) |
L308P |
probably damaging |
Het |
Grik2 |
A |
T |
10: 49,148,863 (GRCm39) |
V574D |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,336,543 (GRCm39) |
I5107F |
possibly damaging |
Het |
Kl |
A |
T |
5: 150,906,229 (GRCm39) |
Y533F |
probably benign |
Het |
Man2b1 |
G |
T |
8: 85,822,907 (GRCm39) |
R816L |
probably damaging |
Het |
Myo5c |
T |
C |
9: 75,182,823 (GRCm39) |
Y821H |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,092,866 (GRCm39) |
C2076S |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
Nectin2 |
A |
T |
7: 19,472,275 (GRCm39) |
V38E |
probably damaging |
Het |
Or13a24 |
A |
T |
7: 140,154,044 (GRCm39) |
|
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,921,770 (GRCm39) |
Y536C |
possibly damaging |
Het |
Pcdh18 |
T |
G |
3: 49,710,998 (GRCm39) |
I106L |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,606,428 (GRCm39) |
K2149E |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,803,681 (GRCm39) |
C588S |
probably benign |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pop1 |
T |
C |
15: 34,529,316 (GRCm39) |
M812T |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
Rab44 |
C |
T |
17: 29,359,294 (GRCm39) |
A494V |
unknown |
Het |
Ros1 |
G |
C |
10: 51,977,941 (GRCm39) |
T1456S |
possibly damaging |
Het |
Rubcnl |
T |
G |
14: 75,289,425 (GRCm39) |
F644L |
probably damaging |
Het |
Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
Sh3glb1 |
T |
G |
3: 144,397,198 (GRCm39) |
E383D |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,407 (GRCm39) |
V508A |
probably damaging |
Het |
Sirt6 |
A |
T |
10: 81,458,328 (GRCm39) |
H308Q |
probably benign |
Het |
Slc29a1 |
T |
A |
17: 45,900,706 (GRCm39) |
I119F |
probably damaging |
Het |
Smtnl1 |
C |
T |
2: 84,648,742 (GRCm39) |
E171K |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,923,923 (GRCm39) |
E799D |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,137,658 (GRCm39) |
W894R |
probably damaging |
Het |
Tiam2 |
A |
C |
17: 3,558,065 (GRCm39) |
I1230L |
possibly damaging |
Het |
Tnfrsf8 |
A |
G |
4: 145,019,265 (GRCm39) |
L190P |
probably damaging |
Het |
Trim35 |
C |
T |
14: 66,534,724 (GRCm39) |
T69M |
possibly damaging |
Het |
Ttll7 |
T |
C |
3: 146,645,779 (GRCm39) |
Y546H |
probably benign |
Het |
Ubash3b |
C |
T |
9: 40,940,971 (GRCm39) |
G389R |
probably damaging |
Het |
Vma21-ps |
C |
T |
4: 52,497,034 (GRCm39) |
V71I |
probably damaging |
Het |
Vmn1r43 |
T |
A |
6: 89,847,414 (GRCm39) |
H24L |
possibly damaging |
Het |
Vps37c |
T |
A |
19: 10,687,719 (GRCm39) |
L60Q |
probably damaging |
Het |
Ythdf2 |
A |
G |
4: 131,931,946 (GRCm39) |
W405R |
probably damaging |
Het |
Zfp775 |
T |
C |
6: 48,597,637 (GRCm39) |
C504R |
probably damaging |
Het |
Zfp82 |
A |
G |
7: 29,761,652 (GRCm39) |
|
probably null |
Het |
Zpr1 |
T |
A |
9: 46,185,400 (GRCm39) |
I127N |
probably 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 |
|
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'- CCTTAGGTTCTTCAGCGCAG -3'
(R):5'- CGAGAGTTGCTGGTTCCTTC -3'
Sequencing Primer
(F):5'- CTCTGATGCTTTCCCTGGG -3'
(R):5'- CTTCTCCCTCCGGCAAGGTG -3'
|
Posted On |
2020-10-20 |