Incidental Mutation 'R1751:Clstn3'
ID |
193511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn3
|
Ensembl Gene |
ENSMUSG00000008153 |
Gene Name |
calsyntenin 3 |
Synonyms |
Cst-3, CSTN3, alcadein-beta |
MMRRC Submission |
039783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1751 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124408958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 860
(W860R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
AlphaFold |
Q99JH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: W897R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153 AA Change: W897R
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: W860R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153 AA Change: W860R
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 |
noncoding transcript
Transcript: ENSMUST00000124998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143283
|
Meta Mutation Damage Score |
0.9488 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
99% (85/86) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
T |
A |
8: 43,972,948 (GRCm39) |
I685F |
probably benign |
Het |
Alcam |
A |
T |
16: 52,091,077 (GRCm39) |
N480K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,260 (GRCm39) |
Q778R |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,594,472 (GRCm39) |
I1189N |
probably damaging |
Het |
AU040320 |
G |
A |
4: 126,734,517 (GRCm39) |
G713D |
probably damaging |
Het |
Bank1 |
G |
T |
3: 135,940,375 (GRCm39) |
R203S |
probably benign |
Het |
Bank1 |
A |
G |
3: 135,960,698 (GRCm39) |
V53A |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,350,628 (GRCm39) |
S406G |
probably benign |
Het |
Ccdc198 |
G |
A |
14: 49,473,341 (GRCm39) |
T128I |
probably benign |
Het |
Ccdc40 |
T |
A |
11: 119,121,522 (GRCm39) |
|
probably null |
Het |
Cdc5l |
A |
T |
17: 45,718,731 (GRCm39) |
D628E |
probably benign |
Het |
Chd3 |
G |
A |
11: 69,244,727 (GRCm39) |
|
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,595,371 (GRCm39) |
|
probably null |
Het |
Coq10b |
A |
G |
1: 55,100,513 (GRCm39) |
R66G |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,078,485 (GRCm39) |
Y405* |
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,886,100 (GRCm39) |
V89A |
probably benign |
Het |
Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
Ephx1 |
C |
T |
1: 180,822,242 (GRCm39) |
G101S |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Flg |
A |
T |
3: 93,187,220 (GRCm39) |
Y224F |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
Gart |
A |
C |
16: 91,439,837 (GRCm39) |
|
probably benign |
Het |
Gm11116 |
T |
C |
5: 88,259,311 (GRCm39) |
|
probably benign |
Het |
Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gnas |
T |
A |
2: 174,139,687 (GRCm39) |
|
probably benign |
Het |
Greb1 |
A |
G |
12: 16,773,439 (GRCm39) |
|
probably benign |
Het |
Grin3a |
A |
T |
4: 49,844,423 (GRCm39) |
V220E |
probably damaging |
Het |
Gstt2 |
T |
C |
10: 75,670,098 (GRCm39) |
D8G |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,725,773 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
C |
17: 12,916,328 (GRCm39) |
S1677A |
possibly damaging |
Het |
Jmjd1c |
T |
C |
10: 67,061,469 (GRCm39) |
L1274P |
probably benign |
Het |
Krt13 |
A |
C |
11: 100,011,926 (GRCm39) |
H132Q |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,441,531 (GRCm39) |
L1145S |
probably damaging |
Het |
Lrrn4cl |
A |
G |
19: 8,829,135 (GRCm39) |
T38A |
probably benign |
Het |
Ly96 |
A |
G |
1: 16,776,399 (GRCm39) |
T112A |
probably benign |
Het |
Meltf |
G |
T |
16: 31,702,747 (GRCm39) |
C158F |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,485,841 (GRCm39) |
H1040Q |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,820,884 (GRCm39) |
T914S |
probably benign |
Het |
Npas4 |
G |
A |
19: 5,038,211 (GRCm39) |
P199L |
probably benign |
Het |
Or12d17 |
A |
T |
17: 37,777,792 (GRCm39) |
M232L |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,338,612 (GRCm39) |
H923L |
probably damaging |
Het |
Pcp4 |
A |
C |
16: 96,326,689 (GRCm39) |
Q290P |
probably damaging |
Het |
Pdlim1 |
C |
T |
19: 40,240,348 (GRCm39) |
|
probably benign |
Het |
Pias3 |
T |
C |
3: 96,608,719 (GRCm39) |
S228P |
probably damaging |
Het |
Pign |
A |
G |
1: 105,580,917 (GRCm39) |
V154A |
probably benign |
Het |
Pik3c2a |
A |
C |
7: 115,945,471 (GRCm39) |
V1445G |
probably damaging |
Het |
Plod3 |
T |
A |
5: 137,019,030 (GRCm39) |
V305E |
possibly damaging |
Het |
Plxnc1 |
A |
G |
10: 94,685,677 (GRCm39) |
|
probably benign |
Het |
Prkra |
G |
T |
2: 76,477,584 (GRCm39) |
H40Q |
possibly damaging |
Het |
Retnlg |
A |
T |
16: 48,693,991 (GRCm39) |
D49V |
possibly damaging |
Het |
Rfx2 |
A |
G |
17: 57,091,754 (GRCm39) |
V313A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Rtp1 |
A |
G |
16: 23,250,124 (GRCm39) |
E163G |
probably damaging |
Het |
Sbpl |
A |
G |
17: 24,173,777 (GRCm39) |
|
probably null |
Het |
Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,900,613 (GRCm39) |
D1018G |
probably damaging |
Het |
Slc38a11 |
T |
A |
2: 65,180,452 (GRCm39) |
I182F |
probably benign |
Het |
Slc6a20a |
T |
A |
9: 123,466,165 (GRCm39) |
I522F |
probably damaging |
Het |
Smarca2 |
T |
C |
19: 26,617,780 (GRCm39) |
|
probably benign |
Het |
Ssbp3 |
G |
T |
4: 106,904,612 (GRCm39) |
D336Y |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,445 (GRCm39) |
T943A |
probably damaging |
Het |
Sun2 |
A |
G |
15: 79,609,758 (GRCm39) |
S694P |
probably benign |
Het |
Tdp1 |
G |
A |
12: 99,857,602 (GRCm39) |
|
probably null |
Het |
Tfap2a |
A |
T |
13: 40,878,613 (GRCm39) |
I204N |
probably damaging |
Het |
Tfip11 |
T |
A |
5: 112,482,298 (GRCm39) |
W519R |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,333,373 (GRCm39) |
E831G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
Tmem39b |
A |
C |
4: 129,586,976 (GRCm39) |
I78M |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,220,547 (GRCm39) |
V2428A |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,541,617 (GRCm39) |
E247G |
probably damaging |
Het |
Trpc7 |
T |
A |
13: 56,923,956 (GRCm39) |
D743V |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,751,385 (GRCm39) |
|
probably null |
Het |
Tsc1 |
A |
G |
2: 28,566,038 (GRCm39) |
I485V |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,542 (GRCm39) |
S674P |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,228,618 (GRCm39) |
D201E |
probably damaging |
Het |
Tsr3 |
T |
C |
17: 25,461,613 (GRCm39) |
I317T |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Vmn1r192 |
A |
G |
13: 22,371,441 (GRCm39) |
S260P |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,786 (GRCm39) |
V806E |
probably damaging |
Het |
Wnt10b |
A |
T |
15: 98,670,556 (GRCm39) |
L228Q |
probably damaging |
Het |
Zfp108 |
C |
A |
7: 23,961,321 (GRCm39) |
H637Q |
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 |
|
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'- TGGTTCTGGTAGGACTGGAGAAGAC -3'
(R):5'- TGAGCCCAAATTGCCCAGGTATG -3'
Sequencing Primer
(F):5'- ATGCGCCATTGCAGAGTC -3'
(R):5'- GGGTTCTGCTGACCCCTTG -3'
|
Posted On |
2014-05-23 |