Incidental Mutation 'R7380:Clstn3'
| ID |
572632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
045462-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7380 (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 124433948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 404
(E404G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008297
AA Change: E404G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: E404G
| 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: E367G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: E367G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,700,376 (GRCm39) |
T9A |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,215,784 (GRCm39) |
S414R |
possibly damaging |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Ankib1 |
G |
T |
5: 3,772,576 (GRCm39) |
Q487K |
probably benign |
Het |
| BC034090 |
T |
G |
1: 155,108,229 (GRCm39) |
S11R |
probably damaging |
Het |
| Car12 |
A |
G |
9: 66,654,945 (GRCm39) |
N125S |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,044,416 (GRCm39) |
V137A |
probably benign |
Het |
| Cfap54 |
C |
A |
10: 92,883,840 (GRCm39) |
V305F |
probably damaging |
Het |
| Copg1 |
T |
G |
6: 87,870,824 (GRCm39) |
L209R |
probably damaging |
Het |
| Cpb2 |
A |
T |
14: 75,493,449 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Cpd |
G |
A |
11: 76,693,151 (GRCm39) |
Q712* |
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,450,361 (GRCm39) |
Y2690F |
|
Het |
| Dchs1 |
G |
T |
7: 105,407,835 (GRCm39) |
T1999K |
probably benign |
Het |
| Ddx10 |
T |
A |
9: 53,151,786 (GRCm39) |
T80S |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,854,768 (GRCm39) |
T69I |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,370,524 (GRCm39) |
H2821Q |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,466,572 (GRCm39) |
|
probably benign |
Het |
| Fam193b |
A |
C |
13: 55,690,612 (GRCm39) |
S717A |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,082,493 (GRCm39) |
F500L |
unknown |
Het |
| Focad |
T |
A |
4: 88,192,435 (GRCm39) |
V588D |
unknown |
Het |
| Gm12728 |
T |
C |
4: 105,651,593 (GRCm39) |
F68L |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,974,621 (GRCm39) |
M478K |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,070 (GRCm39) |
D229V |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,230,171 (GRCm39) |
I308F |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,085,933 (GRCm39) |
T249A |
probably benign |
Het |
| Igfn1 |
C |
A |
1: 135,889,746 (GRCm39) |
V2434F |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,156,680 (GRCm39) |
Q127* |
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,382,879 (GRCm39) |
Q737K |
probably benign |
Het |
| Khdrbs2 |
T |
C |
1: 32,372,685 (GRCm39) |
S120P |
unknown |
Het |
| Lmx1a |
T |
C |
1: 167,519,609 (GRCm39) |
F46L |
probably damaging |
Het |
| Lrba |
C |
G |
3: 86,232,381 (GRCm39) |
T776R |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,701 (GRCm39) |
N492S |
possibly damaging |
Het |
| Mapk3 |
A |
T |
7: 126,363,967 (GRCm39) |
I365F |
|
Het |
| Mcee |
A |
G |
7: 64,061,657 (GRCm39) |
I153M |
possibly damaging |
Het |
| Mllt3 |
T |
C |
4: 87,710,180 (GRCm39) |
D415G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,740 (GRCm39) |
T1747S |
unknown |
Het |
| Myh14 |
A |
T |
7: 44,310,466 (GRCm39) |
V139E |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,779,706 (GRCm39) |
I772L |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,367,268 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,283,969 (GRCm39) |
I841N |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,437,102 (GRCm39) |
T2006I |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,254 (GRCm39) |
W427R |
probably damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,020,540 (GRCm39) |
F324L |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,947,740 (GRCm39) |
K4430E |
|
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,013 (GRCm39) |
Y61N |
possibly damaging |
Het |
| Or5ac21 |
A |
G |
16: 59,124,391 (GRCm39) |
R292G |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,530 (GRCm39) |
T145S |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,517,894 (GRCm39) |
L160P |
probably benign |
Het |
| Osgin1 |
T |
A |
8: 120,172,170 (GRCm39) |
H321Q |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,186,273 (GRCm39) |
I251V |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,997 (GRCm39) |
W77* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,800,616 (GRCm39) |
I3086N |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,988,350 (GRCm39) |
N360S |
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,075,614 (GRCm39) |
S541C |
probably null |
Het |
| Ptch2 |
C |
A |
4: 116,971,843 (GRCm39) |
Q1122K |
possibly damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,223 (GRCm39) |
I258V |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,664,672 (GRCm39) |
R64S |
probably benign |
Het |
| Rbm44 |
A |
G |
1: 91,079,938 (GRCm39) |
N42S |
possibly damaging |
Het |
| Ring1 |
T |
C |
17: 34,240,694 (GRCm39) |
Y361C |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,329,852 (GRCm39) |
T1155A |
probably damaging |
Het |
| Rsf1 |
GGCGG |
GGCGGTGGCCGCGG |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,470,502 (GRCm39) |
T4682A |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,790 (GRCm39) |
N598Y |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,868,847 (GRCm39) |
V653A |
unknown |
Het |
| Slc16a13 |
T |
C |
11: 70,110,105 (GRCm39) |
Y132C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,815 (GRCm39) |
V364A |
unknown |
Het |
| Slc8a2 |
C |
T |
7: 15,868,278 (GRCm39) |
A170V |
probably damaging |
Het |
| Slfn8 |
C |
T |
11: 82,894,566 (GRCm39) |
R691Q |
not run |
Het |
| Snx2 |
T |
C |
18: 53,327,640 (GRCm39) |
V122A |
probably benign |
Het |
| Sstr1 |
A |
T |
12: 58,260,066 (GRCm39) |
M230L |
probably benign |
Het |
| Themis2 |
C |
T |
4: 132,513,528 (GRCm39) |
V233I |
possibly damaging |
Het |
| Tmem106b |
T |
C |
6: 13,078,167 (GRCm39) |
S121P |
probably damaging |
Het |
| Tmem63c |
A |
G |
12: 87,124,722 (GRCm39) |
I529V |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,686,971 (GRCm39) |
|
probably null |
Het |
| Trmt10c |
A |
T |
16: 55,854,619 (GRCm39) |
W339R |
probably damaging |
Het |
| Ugt2b1 |
A |
T |
5: 87,065,578 (GRCm39) |
F487Y |
not run |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,838 (GRCm39) |
L835* |
probably null |
Het |
| Vps52 |
C |
A |
17: 34,177,283 (GRCm39) |
N108K |
possibly damaging |
Het |
| Wdpcp |
T |
A |
11: 21,661,585 (GRCm39) |
C286S |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,551 (GRCm39) |
H529Q |
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 |
|
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'- TTCCATCCATCTCAGAGGCC -3'
(R):5'- GTTGCCAAATTAGTCTTCCTGC -3'
Sequencing Primer
(F):5'- TCCATCTCAGAGGCCACG -3'
(R):5'- GCCAAATTAGTCTTCCTGCATCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation