Incidental Mutation 'R2192:Clstn3'
ID |
238201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn3
|
Ensembl Gene |
ENSMUSG00000008153 |
Gene Name |
calsyntenin 3 |
Synonyms |
Cst-3, CSTN3, alcadein-beta |
MMRRC Submission |
040194-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2192 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124436166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 194
(D194E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
AlphaFold |
Q99JH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: D231E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153 AA Change: D231E
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: D194E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153 AA Change: D194E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156040
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
A |
T |
2: 131,403,289 (GRCm39) |
M267K |
probably damaging |
Het |
Aen |
T |
C |
7: 78,555,793 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
G |
6: 125,992,502 (GRCm39) |
D825G |
probably damaging |
Het |
Bdh2 |
T |
C |
3: 135,001,025 (GRCm39) |
S142P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,800,924 (GRCm39) |
L2507P |
possibly damaging |
Het |
Ces3a |
T |
C |
8: 105,782,212 (GRCm39) |
F308S |
probably benign |
Het |
Cfap47 |
C |
T |
X: 78,454,218 (GRCm39) |
R1646Q |
probably damaging |
Het |
Chd4 |
T |
A |
6: 125,082,320 (GRCm39) |
M603K |
probably damaging |
Het |
Cit |
T |
C |
5: 116,106,068 (GRCm39) |
V984A |
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,492,696 (GRCm39) |
R600G |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,439,907 (GRCm39) |
G801D |
probably damaging |
Het |
Dgkg |
A |
G |
16: 22,407,049 (GRCm39) |
F179L |
probably damaging |
Het |
Dlg3 |
G |
A |
X: 99,817,827 (GRCm39) |
D379N |
probably damaging |
Het |
Drd2 |
G |
T |
9: 49,314,571 (GRCm39) |
R267S |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Edc3 |
T |
C |
9: 57,620,826 (GRCm39) |
V49A |
probably damaging |
Het |
Ern1 |
G |
A |
11: 106,300,750 (GRCm39) |
T548I |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,838,192 (GRCm39) |
D2684G |
possibly damaging |
Het |
Fam20a |
A |
G |
11: 109,565,449 (GRCm39) |
M454T |
probably benign |
Het |
Fbp2 |
A |
G |
13: 63,006,056 (GRCm39) |
M19T |
possibly damaging |
Het |
Frmd4b |
A |
T |
6: 97,464,577 (GRCm39) |
C47S |
probably damaging |
Het |
Gtf2h1 |
T |
A |
7: 46,464,747 (GRCm39) |
I388N |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,453,206 (GRCm39) |
V571A |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,870,841 (GRCm39) |
K2832* |
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,688 (GRCm39) |
D3081E |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,591,566 (GRCm39) |
S1878T |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,841,605 (GRCm39) |
|
probably null |
Het |
Il17rd |
A |
T |
14: 26,816,835 (GRCm39) |
K180M |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
Khdrbs1 |
A |
G |
4: 129,613,830 (GRCm39) |
|
probably null |
Het |
Lce3a |
A |
C |
3: 92,832,837 (GRCm39) |
S88A |
unknown |
Het |
Lgals12 |
C |
T |
19: 7,578,606 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,399,373 (GRCm39) |
T57A |
probably benign |
Het |
Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
Lrrc4c |
C |
G |
2: 97,459,657 (GRCm39) |
N94K |
possibly damaging |
Het |
Mag |
A |
T |
7: 30,600,066 (GRCm39) |
Y571* |
probably null |
Het |
Mbd1 |
T |
A |
18: 74,410,449 (GRCm39) |
D583E |
probably damaging |
Het |
Mill1 |
T |
A |
7: 17,998,544 (GRCm39) |
Y251* |
probably null |
Het |
Mllt10 |
T |
C |
2: 18,211,871 (GRCm39) |
I928T |
probably benign |
Het |
Ms4a18 |
T |
C |
19: 10,991,029 (GRCm39) |
T22A |
probably benign |
Het |
Mtmr14 |
T |
C |
6: 113,257,700 (GRCm39) |
F250L |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,704 (GRCm39) |
I642T |
probably damaging |
Het |
Nat10 |
C |
A |
2: 103,556,522 (GRCm39) |
E885D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,321,054 (GRCm39) |
L2055H |
probably damaging |
Het |
Necab3 |
T |
A |
2: 154,388,999 (GRCm39) |
I192F |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,650,000 (GRCm39) |
N783K |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,749,899 (GRCm39) |
W61R |
probably damaging |
Het |
Nox4 |
T |
A |
7: 87,023,588 (GRCm39) |
F491L |
probably benign |
Het |
Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,009 (GRCm39) |
Y212* |
probably null |
Het |
Or4c127 |
T |
A |
2: 89,832,774 (GRCm39) |
I8N |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,855 (GRCm39) |
V11A |
probably benign |
Het |
Osbpl5 |
A |
T |
7: 143,247,596 (GRCm39) |
Y723* |
probably null |
Het |
Otop2 |
T |
C |
11: 115,217,757 (GRCm39) |
S198P |
possibly damaging |
Het |
Pgam5 |
T |
G |
5: 110,413,785 (GRCm39) |
H126P |
probably damaging |
Het |
Phip |
A |
T |
9: 82,753,868 (GRCm39) |
N1625K |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,451 (GRCm39) |
Y202* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,347,156 (GRCm39) |
H176Q |
unknown |
Het |
Plxdc2 |
A |
G |
2: 16,570,147 (GRCm39) |
R109G |
probably damaging |
Het |
Prorsd1 |
T |
C |
11: 29,463,592 (GRCm39) |
K57E |
probably benign |
Het |
Rnf150 |
A |
T |
8: 83,591,020 (GRCm39) |
R128W |
probably damaging |
Het |
Samm50 |
G |
A |
15: 84,084,625 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
T |
4: 112,722,909 (GRCm39) |
Y889* |
probably null |
Het |
Slc35b1 |
T |
C |
11: 95,276,640 (GRCm39) |
Y40H |
probably damaging |
Het |
Speg |
A |
G |
1: 75,394,371 (GRCm39) |
H1722R |
probably damaging |
Het |
Suz12 |
T |
C |
11: 79,913,024 (GRCm39) |
L356P |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
Trim2 |
G |
A |
3: 84,098,225 (GRCm39) |
Q359* |
probably null |
Het |
Ttc28 |
T |
C |
5: 111,371,362 (GRCm39) |
Y635H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,543,549 (GRCm39) |
E33146K |
probably damaging |
Het |
Vcp |
G |
T |
4: 42,982,547 (GRCm39) |
T715K |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,067,355 (GRCm39) |
N181K |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,582,144 (GRCm39) |
M511K |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,055,408 (GRCm39) |
R1554Q |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,863 (GRCm39) |
Q277L |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,684,620 (GRCm39) |
E42G |
probably damaging |
Het |
Zfp976 |
G |
A |
7: 42,262,695 (GRCm39) |
P381S |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,800,982 (GRCm39) |
|
probably null |
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 |
|
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'- CCTTCCATGCTCATCAGACATG -3'
(R):5'- GCCAAGTATACTCATGCCTTCC -3'
Sequencing Primer
(F):5'- ACCATGGGAATTGATGCCCTC -3'
(R):5'- CTTTCACAGGGGTCACATATCAG -3'
|
Posted On |
2014-10-02 |