Incidental Mutation 'R5919:Clstn1'
| ID |
462557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn1
|
| Ensembl Gene |
ENSMUSG00000039953 |
| Gene Name |
calsyntenin 1 |
| Synonyms |
Cst-1, alcadein alpha, calsyntenin-1, 1810034E21Rik |
| MMRRC Submission |
044116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149670925-149733356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149719703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 416
(H416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039144]
[ENSMUST00000105691]
|
| AlphaFold |
Q9EPL2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039144
AA Change: H416L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953
AA Change: H416L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
162 |
1.25e-11 |
SMART |
|
CA
|
185 |
263 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
365 |
510 |
3.3e-9 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
transmembrane domain
|
860 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105691
AA Change: H406L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953
AA Change: H406L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
152 |
2.91e-12 |
SMART |
|
CA
|
175 |
253 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
350 |
544 |
1.1e-12 |
PFAM |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
transmembrane domain
|
850 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
905 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151895
|
| Meta Mutation Damage Score |
0.9028 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Juvenile mice homozygous for a null allele show reduced basal excitatory synaptic transmission, abnormal excitatory postsynaptic currents, enhanced NMDA receptor-dependent long term potentiation, and delayed dendritic spine maturation in CA1 hippocampal pyramidal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
C |
1: 151,791,249 (GRCm39) |
D104G |
probably damaging |
Het |
| 6030458C11Rik |
A |
T |
15: 12,823,754 (GRCm39) |
H40Q |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,659,239 (GRCm39) |
D648Y |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,417 (GRCm39) |
D547E |
probably benign |
Het |
| Aebp1 |
A |
T |
11: 5,821,421 (GRCm39) |
M607L |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,686,116 (GRCm39) |
Y401H |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,962 (GRCm39) |
T163A |
probably benign |
Het |
| Bltp2 |
A |
T |
11: 78,180,176 (GRCm39) |
N2152I |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,929,718 (GRCm39) |
S331P |
probably damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,231,692 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,096,146 (GRCm39) |
N1651D |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,414,700 (GRCm39) |
I370F |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,509,580 (GRCm39) |
R3030H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,147,294 (GRCm39) |
V540E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,991 (GRCm39) |
R710H |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,983 (GRCm39) |
I851V |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,344,146 (GRCm39) |
V642A |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,486 (GRCm39) |
L1139P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,910 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,822,953 (GRCm39) |
N6229D |
possibly damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,385 (GRCm39) |
E144G |
possibly damaging |
Het |
| Gas2l3 |
G |
A |
10: 89,252,917 (GRCm39) |
R243W |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,815,855 (GRCm39) |
R1406W |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,976,249 (GRCm39) |
H180R |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,006 (GRCm39) |
Q1261L |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,001 (GRCm39) |
V230A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,997,202 (GRCm39) |
I42F |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,477 (GRCm39) |
K799E |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,303,552 (GRCm39) |
I84F |
probably damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,163,907 (GRCm39) |
Y176C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,551,509 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
C |
A |
19: 11,291,661 (GRCm39) |
V13F |
possibly damaging |
Het |
| Muc2 |
T |
A |
7: 141,281,171 (GRCm39) |
V445D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,227,837 (GRCm39) |
M1317K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 38,012,818 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ndufaf1 |
A |
C |
2: 119,490,709 (GRCm39) |
V117G |
possibly damaging |
Het |
| Ndufs1 |
C |
G |
1: 63,182,991 (GRCm39) |
*728S |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,229,906 (GRCm39) |
N1375Y |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,066,329 (GRCm39) |
I149N |
probably damaging |
Het |
| Or9i16 |
A |
G |
19: 13,865,209 (GRCm39) |
Y122H |
probably damaging |
Het |
| Pelo |
C |
A |
13: 115,225,845 (GRCm39) |
C204F |
possibly damaging |
Het |
| Phf11d |
A |
C |
14: 59,593,712 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
T |
C |
4: 34,657,232 (GRCm39) |
L526P |
probably damaging |
Het |
| Rrp1 |
A |
G |
10: 78,241,422 (GRCm39) |
L177P |
probably damaging |
Het |
| S100a9 |
A |
G |
3: 90,602,495 (GRCm39) |
L33P |
probably damaging |
Het |
| Slc4a7 |
A |
G |
14: 14,791,092 (GRCm38) |
D1045G |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,859 (GRCm39) |
T328I |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,636,405 (GRCm39) |
D232G |
probably damaging |
Het |
| Taar6 |
A |
T |
10: 23,861,168 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmeff2 |
C |
A |
1: 51,171,311 (GRCm39) |
C182* |
probably null |
Het |
| Tmem178 |
T |
A |
17: 81,297,187 (GRCm39) |
C190S |
probably damaging |
Het |
| Trerf1 |
T |
G |
17: 47,634,208 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv6 |
A |
G |
13: 19,374,782 (GRCm39) |
Y16C |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,423 (GRCm39) |
I1046V |
possibly damaging |
Het |
| Vmn1r221 |
A |
T |
13: 23,401,466 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,723 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,768,419 (GRCm39) |
N398Y |
probably benign |
Het |
| Zfp787 |
T |
G |
7: 6,135,834 (GRCm39) |
Q139P |
probably damaging |
Het |
|
| Other mutations in Clstn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Clstn1
|
APN |
4 |
149,719,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00585:Clstn1
|
APN |
4 |
149,722,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00911:Clstn1
|
APN |
4 |
149,727,648 (GRCm39) |
splice site |
probably benign |
|
|
IGL01394:Clstn1
|
APN |
4 |
149,719,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02193:Clstn1
|
APN |
4 |
149,729,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02406:Clstn1
|
APN |
4 |
149,711,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Clstn1
|
APN |
4 |
149,716,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02641:Clstn1
|
APN |
4 |
149,713,968 (GRCm39) |
missense |
probably null |
1.00 |
|
R0012:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0020:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0021:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0026:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0031:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0038:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0062:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0064:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0193:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0279:Clstn1
|
UTSW |
4 |
149,728,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Clstn1
|
UTSW |
4 |
149,728,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Clstn1
|
UTSW |
4 |
149,713,757 (GRCm39) |
splice site |
probably null |
|
|
R0685:Clstn1
|
UTSW |
4 |
149,731,312 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0724:Clstn1
|
UTSW |
4 |
149,728,081 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1016:Clstn1
|
UTSW |
4 |
149,731,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1622:Clstn1
|
UTSW |
4 |
149,713,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1680:Clstn1
|
UTSW |
4 |
149,728,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3803:Clstn1
|
UTSW |
4 |
149,719,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Clstn1
|
UTSW |
4 |
149,729,486 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5024:Clstn1
|
UTSW |
4 |
149,719,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6269:Clstn1
|
UTSW |
4 |
149,728,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6354:Clstn1
|
UTSW |
4 |
149,727,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6382:Clstn1
|
UTSW |
4 |
149,710,577 (GRCm39) |
splice site |
probably null |
|
|
R6573:Clstn1
|
UTSW |
4 |
149,728,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Clstn1
|
UTSW |
4 |
149,713,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Clstn1
|
UTSW |
4 |
149,719,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7571:Clstn1
|
UTSW |
4 |
149,730,744 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7682:Clstn1
|
UTSW |
4 |
149,710,558 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7738:Clstn1
|
UTSW |
4 |
149,719,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Clstn1
|
UTSW |
4 |
149,716,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Clstn1
|
UTSW |
4 |
149,698,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7918:Clstn1
|
UTSW |
4 |
149,728,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8007:Clstn1
|
UTSW |
4 |
149,716,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Clstn1
|
UTSW |
4 |
149,731,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9173:Clstn1
|
UTSW |
4 |
149,710,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9463:Clstn1
|
UTSW |
4 |
149,698,564 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9491:Clstn1
|
UTSW |
4 |
149,731,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Clstn1
|
UTSW |
4 |
149,722,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Clstn1
|
UTSW |
4 |
149,719,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGTTCTATGCTGGGGACAC -3'
(R):5'- GGATACACAGACCACAGTGTCC -3'
Sequencing Primer
(F):5'- GTAGATTACTCAGTAAAGTGCCCGTG -3'
(R):5'- CCTCAGGCTGTCACATCCAGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation