Incidental Mutation 'R6813:Clstn3'
| ID |
533944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
044925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6813 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124413894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 767
(M767L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008297
AA Change: M804L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: M804L
| 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: M767L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: M767L
| 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 |
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,402,519 (GRCm39) |
F503S |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
| Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
| Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
| Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
| Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
| Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
| Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
| Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
| Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
| Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
| Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
| Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
| Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,572,188 (GRCm39) |
D157V |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
| Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
| Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
| Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
| Pdzph1 |
G |
T |
17: 59,281,431 (GRCm39) |
Q284K |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
| Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
| Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
| Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
| Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
| Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,116 (GRCm39) |
H119R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
| Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
|
|
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 |
|
|
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'- CCCCAGGATATAGGGATGAGTG -3'
(R):5'- TACAGCTAAGCCCAATGTCC -3'
Sequencing Primer
(F):5'- TAGGGATGAGTGTTAATGTCACAC -3'
(R):5'- GAGAAGTGTCTCCTGCAAATTGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation