Incidental Mutation 'R7780:Clstn3'
| ID |
599157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
045836-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7780 (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 C
at 124439161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 32
(E32G)
|
| 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: E32G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: E32G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (77/77) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
C |
T |
8: 25,294,432 (GRCm39) |
R389K |
possibly damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,746,716 (GRCm39) |
V1205M |
|
Het |
| Ccr3 |
A |
G |
9: 123,828,989 (GRCm39) |
Y108C |
probably benign |
Het |
| Cers5 |
T |
G |
15: 99,637,589 (GRCm39) |
H220P |
probably damaging |
Het |
| Cfap61 |
A |
T |
2: 145,995,692 (GRCm39) |
N1086Y |
possibly damaging |
Het |
| Cip2a |
T |
A |
16: 48,822,023 (GRCm39) |
L217* |
probably null |
Het |
| Cox20 |
T |
C |
1: 178,149,566 (GRCm39) |
C72R |
probably benign |
Het |
| Csf1 |
A |
T |
3: 107,657,709 (GRCm39) |
N154K |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,118,256 (GRCm39) |
K112N |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,848,172 (GRCm39) |
D488G |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,818,589 (GRCm39) |
K199R |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,305,718 (GRCm39) |
I316T |
probably benign |
Het |
| Evpl |
C |
T |
11: 116,125,000 (GRCm39) |
R154H |
not run |
Het |
| Fbn1 |
A |
G |
2: 125,143,678 (GRCm39) |
L2817P |
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,921,131 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,162,358 (GRCm39) |
D283G |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,167,656 (GRCm39) |
S20T |
probably benign |
Het |
| Fkbp10 |
T |
C |
11: 100,312,048 (GRCm39) |
Y203H |
probably damaging |
Het |
| Galntl6 |
C |
T |
8: 58,880,733 (GRCm39) |
|
probably null |
Het |
| Gask1b |
G |
A |
3: 79,848,711 (GRCm39) |
G486S |
probably damaging |
Het |
| Gm26657 |
C |
A |
4: 56,741,056 (GRCm39) |
Y80* |
probably null |
Het |
| Gm973 |
T |
A |
1: 59,597,289 (GRCm39) |
W440R |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,528,689 (GRCm39) |
F903Y |
probably damaging |
Het |
| Iqcf4 |
T |
A |
9: 106,445,860 (GRCm39) |
I96F |
possibly damaging |
Het |
| Kcnq5 |
T |
A |
1: 22,031,555 (GRCm39) |
Q84L |
probably benign |
Het |
| Krit1 |
G |
A |
5: 3,862,772 (GRCm39) |
G254S |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,510 (GRCm39) |
Y152* |
probably null |
Het |
| Loricrin |
A |
T |
3: 91,988,460 (GRCm39) |
Y275* |
probably null |
Het |
| Map4 |
T |
C |
9: 109,863,720 (GRCm39) |
I315T |
probably benign |
Het |
| Mcpt1 |
T |
A |
14: 56,256,609 (GRCm39) |
|
probably null |
Het |
| Mdh1b |
C |
A |
1: 63,759,133 (GRCm39) |
S153I |
possibly damaging |
Het |
| Mfsd12 |
C |
A |
10: 81,193,718 (GRCm39) |
A96E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,315,697 (GRCm39) |
E55G |
probably benign |
Het |
| Mterf4 |
T |
C |
1: 93,232,689 (GRCm39) |
E54G |
probably benign |
Het |
| Mucl3 |
A |
G |
17: 35,947,874 (GRCm39) |
S452P |
possibly damaging |
Het |
| Nuggc |
T |
A |
14: 65,882,490 (GRCm39) |
I745N |
probably damaging |
Het |
| Or6k6 |
T |
C |
1: 173,945,115 (GRCm39) |
I156V |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,786,910 (GRCm39) |
T93A |
possibly damaging |
Het |
| Parg |
A |
T |
14: 31,930,758 (GRCm39) |
N126I |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,123,987 (GRCm39) |
I728V |
possibly damaging |
Het |
| Pcdha1 |
C |
G |
18: 37,065,511 (GRCm39) |
P725R |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,849 (GRCm39) |
L647M |
probably damaging |
Het |
| Phb2 |
T |
C |
6: 124,692,995 (GRCm39) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,483,610 (GRCm39) |
|
probably null |
Het |
| Pmch |
T |
A |
10: 87,927,113 (GRCm39) |
F39I |
probably benign |
Het |
| Psmd7 |
A |
T |
8: 108,307,920 (GRCm39) |
S188T |
possibly damaging |
Het |
| Pycr2 |
T |
A |
1: 180,733,913 (GRCm39) |
D168E |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,771,692 (GRCm39) |
Y96H |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,184,334 (GRCm39) |
G1511S |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,138 (GRCm39) |
C852* |
probably null |
Het |
| Rexo2 |
T |
C |
9: 48,380,145 (GRCm39) |
N229S |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,941 (GRCm39) |
V622A |
possibly damaging |
Het |
| Serpina10 |
T |
C |
12: 103,594,806 (GRCm39) |
S138G |
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,061,059 (GRCm39) |
T2415S |
possibly damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,792,040 (GRCm39) |
N257D |
probably benign |
Het |
| Tbl3 |
A |
G |
17: 24,921,205 (GRCm39) |
F529L |
probably damaging |
Het |
| Them6 |
A |
T |
15: 74,593,427 (GRCm39) |
N95I |
probably benign |
Het |
| Thrb |
T |
C |
14: 18,008,608 (GRCm38) |
S156P |
possibly damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,731 (GRCm39) |
R177C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,660,937 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
A |
8: 72,110,979 (GRCm39) |
I411F |
probably benign |
Het |
| Uqcc1 |
T |
C |
2: 155,752,073 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
T |
C |
7: 5,199,516 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,680 (GRCm39) |
Y542* |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,556,542 (GRCm39) |
L263P |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
| Wfdc16 |
A |
G |
2: 164,477,785 (GRCm39) |
M88T |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,160,403 (GRCm39) |
D679G |
probably damaging |
Het |
| Ykt6 |
T |
C |
11: 5,912,751 (GRCm39) |
I151T |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,033,225 (GRCm39) |
C479R |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,967,115 (GRCm39) |
I559T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,678,283 (GRCm39) |
N3111S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,432 (GRCm39) |
V154A |
possibly damaging |
Het |
| Zfp629 |
A |
T |
7: 127,211,601 (GRCm39) |
D69E |
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,073 (GRCm39) |
I300N |
possibly damaging |
Het |
| Zfp934 |
T |
C |
13: 62,666,358 (GRCm39) |
H106R |
possibly damaging |
Het |
| Zfta |
T |
C |
19: 7,399,737 (GRCm39) |
S495P |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,576,298 (GRCm39) |
T261I |
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 |
|
|
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'- CCTTAGGTTCTTCAGCGCAG -3'
(R):5'- CCTACGAGAGTTGCTGGTTC -3'
Sequencing Primer
(F):5'- CTGATGCTTTCCCTGGGCTTG -3'
(R):5'- ACGAGAGTTGCTGGTTCCTTCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation