Incidental Mutation 'R1491:Clstn3'
| ID |
163736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
039543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1491 (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 124414449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 759
(I759N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008297
AA Change: I759N
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: I759N
| 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: I722N
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: I722N
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147947
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
T |
A |
12: 112,381,489 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
A |
G |
10: 106,773,169 (GRCm39) |
S606P |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,868,327 (GRCm39) |
T146M |
probably damaging |
Het |
| Adora2b |
G |
A |
11: 62,156,363 (GRCm39) |
V271M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,896,739 (GRCm39) |
Y55C |
probably damaging |
Het |
| AI987944 |
A |
C |
7: 41,023,772 (GRCm39) |
Y402* |
probably null |
Het |
| Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
| Arfgap2 |
A |
G |
2: 91,105,204 (GRCm39) |
K423E |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,302 (GRCm39) |
S575T |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,008,198 (GRCm39) |
I40V |
possibly damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,869,733 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
A |
4: 133,448,237 (GRCm39) |
S477I |
unknown |
Het |
| Armc7 |
T |
C |
11: 115,367,029 (GRCm39) |
V58A |
probably damaging |
Het |
| Arrdc5 |
A |
T |
17: 56,601,222 (GRCm39) |
I301N |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,453 (GRCm39) |
P343S |
probably damaging |
Het |
| Catspere2 |
C |
T |
1: 177,843,495 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,670,535 (GRCm39) |
R1002Q |
probably damaging |
Het |
| Cops5 |
A |
G |
1: 10,104,243 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cramp1 |
G |
T |
17: 25,191,323 (GRCm39) |
T1046K |
probably benign |
Het |
| Cthrc1 |
T |
G |
15: 38,950,072 (GRCm39) |
V143G |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,849,490 (GRCm39) |
Q552* |
probably null |
Het |
| Cyp27b1 |
A |
T |
10: 126,886,957 (GRCm39) |
D391V |
probably damaging |
Het |
| Dcun1d2 |
A |
G |
8: 13,331,040 (GRCm39) |
L30S |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,120,091 (GRCm39) |
E189G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,193,675 (GRCm39) |
S295A |
probably damaging |
Het |
| Dusp22 |
A |
G |
13: 30,892,798 (GRCm39) |
T192A |
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,349,176 (GRCm39) |
M1L |
probably null |
Het |
| Evc2 |
G |
A |
5: 37,550,541 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
A |
G |
10: 93,880,694 (GRCm39) |
N516S |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,495,448 (GRCm39) |
I346K |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,882,201 (GRCm39) |
V32G |
probably damaging |
Het |
| Glrb |
A |
T |
3: 80,819,282 (GRCm39) |
C39S |
possibly damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,016 (GRCm39) |
V253A |
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,092,079 (GRCm39) |
V670A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,266,980 (GRCm39) |
S1085G |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,741,226 (GRCm39) |
N746S |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,877,902 (GRCm39) |
T333A |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,069 (GRCm39) |
V484A |
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,266 (GRCm39) |
T33S |
possibly damaging |
Het |
| Kctd19 |
T |
A |
8: 106,113,694 (GRCm39) |
I660L |
possibly damaging |
Het |
| Lrat |
A |
G |
3: 82,810,649 (GRCm39) |
V124A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,358 (GRCm39) |
I281V |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,173,688 (GRCm39) |
I455F |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,255 (GRCm39) |
L683P |
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,777,683 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,416,849 (GRCm39) |
E814G |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
| Or13a20 |
T |
G |
7: 140,232,650 (GRCm39) |
Y253D |
probably damaging |
Het |
| Or9a2 |
T |
C |
6: 41,748,456 (GRCm39) |
Y259C |
possibly damaging |
Het |
| P2ry13 |
T |
C |
3: 59,116,939 (GRCm39) |
K280E |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,048 (GRCm39) |
F67L |
probably benign |
Het |
| Pfkfb3 |
G |
T |
2: 11,498,747 (GRCm39) |
R37S |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,941,478 (GRCm39) |
D310G |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,602,286 (GRCm39) |
S26G |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,755,147 (GRCm39) |
I1684F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,488,637 (GRCm39) |
V621A |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,116 (GRCm39) |
N82S |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,326 (GRCm39) |
V485A |
probably damaging |
Het |
| Psmd9 |
A |
G |
5: 123,366,410 (GRCm39) |
E14G |
probably benign |
Het |
| Pwwp2b |
A |
G |
7: 138,835,879 (GRCm39) |
E440G |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,113,100 (GRCm39) |
Q771* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,388,744 (GRCm39) |
Q223* |
probably null |
Het |
| Rgs22 |
C |
A |
15: 36,093,047 (GRCm39) |
V409F |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,672 (GRCm39) |
P261S |
possibly damaging |
Het |
| Rpl7a |
A |
G |
2: 26,801,127 (GRCm39) |
N38S |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,004 (GRCm39) |
F41Y |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,603,388 (GRCm39) |
S34R |
probably damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,856,867 (GRCm39) |
Y18N |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,375,444 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
T |
11: 106,394,466 (GRCm39) |
C615S |
possibly damaging |
Het |
| Trim43b |
T |
C |
9: 88,969,665 (GRCm39) |
K261R |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,495,583 (GRCm39) |
M484K |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 87,964,573 (GRCm39) |
S242T |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,034 (GRCm39) |
Y230C |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,965 (GRCm39) |
S149P |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,393,405 (GRCm39) |
|
probably null |
Het |
| Zfp975 |
T |
C |
7: 42,312,236 (GRCm39) |
T126A |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,776,105 (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 |
|
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 |
|
|
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'- TCTCCAATGCAACAAAGTCCCTGTC -3'
(R):5'- CCAAAGCTGTGTCTCCACCATTACC -3'
Sequencing Primer
(F):5'- ATCTGAGGTCAGTACATCCCG -3'
(R):5'- GCTTACTATACTCCTGTAGATCGG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation