Incidental Mutation 'R7330:Clstn2'
| ID |
569186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn2
|
| Ensembl Gene |
ENSMUSG00000032452 |
| Gene Name |
calsyntenin 2 |
| Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
| MMRRC Submission |
045423-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97343422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 675
(A675D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
| AlphaFold |
Q9ER65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035027
AA Change: A675D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: A675D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
67 |
160 |
2e-10 |
SMART |
|
CA
|
183 |
261 |
1.18e-3 |
SMART |
|
SCOP:d1a8d_1
|
358 |
538 |
5e-21 |
SMART |
|
Blast:LamG
|
380 |
529 |
3e-41 |
BLAST |
|
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162295
AA Change: A675D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: A675D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
67 |
160 |
2e-10 |
SMART |
|
CA
|
183 |
261 |
1.18e-3 |
SMART |
|
Pfam:Laminin_G_3
|
356 |
533 |
1.4e-9 |
PFAM |
|
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
C |
9: 118,977,450 (GRCm39) |
T411A |
possibly damaging |
Het |
| Ace |
A |
G |
11: 105,876,887 (GRCm39) |
H1123R |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,889,651 (GRCm39) |
M1K |
probably null |
Het |
| Actr2 |
A |
T |
11: 20,022,544 (GRCm39) |
M309K |
probably damaging |
Het |
| Ahsa2 |
G |
T |
11: 23,440,558 (GRCm39) |
T279K |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,702,947 (GRCm39) |
Y437C |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,700,577 (GRCm39) |
K5* |
probably null |
Het |
| Bbs2 |
T |
A |
8: 94,814,033 (GRCm39) |
E195V |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,949,446 (GRCm39) |
Y1505F |
probably damaging |
Het |
| Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,227,036 (GRCm39) |
V166I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,754,592 (GRCm39) |
C356* |
probably null |
Het |
| Cilp |
A |
T |
9: 65,187,527 (GRCm39) |
R1207S |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,137,923 (GRCm39) |
I291T |
possibly damaging |
Het |
| Clrn3 |
G |
T |
7: 135,130,198 (GRCm39) |
S12Y |
probably damaging |
Het |
| Cpvl |
A |
G |
6: 53,951,744 (GRCm39) |
I13T |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,634 (GRCm39) |
I452T |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,291 (GRCm39) |
V239A |
probably damaging |
Het |
| Edar |
T |
G |
10: 58,446,376 (GRCm39) |
H183P |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,764 (GRCm39) |
S67T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,900 (GRCm39) |
L168P |
probably benign |
Het |
| Grm4 |
C |
T |
17: 27,653,798 (GRCm39) |
W717* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,055 (GRCm39) |
I127V |
probably benign |
Het |
| Igkv4-72 |
C |
T |
6: 69,204,087 (GRCm39) |
A35T |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,922,452 (GRCm39) |
D168G |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,415,292 (GRCm39) |
R1742H |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,635,641 (GRCm39) |
T58S |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,296,311 (GRCm39) |
K566E |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,358,022 (GRCm39) |
T81K |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,723,685 (GRCm39) |
N2540K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,901,553 (GRCm39) |
D769E |
unknown |
Het |
| Neb |
C |
T |
2: 52,079,715 (GRCm39) |
V5780M |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,625,057 (GRCm39) |
C241* |
probably null |
Het |
| Or5d35 |
C |
A |
2: 87,855,265 (GRCm39) |
H66Q |
possibly damaging |
Het |
| Or6c8b |
C |
T |
10: 128,882,333 (GRCm39) |
V200M |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,567 (GRCm39) |
I43F |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,439 (GRCm39) |
V757A |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,854 (GRCm39) |
T448A |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,668,244 (GRCm39) |
M694K |
possibly damaging |
Het |
| Ropn1l |
T |
C |
15: 31,451,349 (GRCm39) |
Y45C |
|
Het |
| Selenbp1 |
T |
A |
3: 94,847,021 (GRCm39) |
D182E |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Spef1 |
G |
A |
2: 131,014,653 (GRCm39) |
R90W |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,452,396 (GRCm39) |
S2787G |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,271 (GRCm39) |
S730P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,078,434 (GRCm39) |
N997S |
probably benign |
Het |
| Tipin |
A |
G |
9: 64,195,508 (GRCm39) |
D38G |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,032,956 (GRCm39) |
K484M |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
A |
AAGTAC |
6: 113,376,125 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,747,355 (GRCm39) |
V4565I |
probably benign |
Het |
| Ubr7 |
A |
G |
12: 102,741,971 (GRCm39) |
I402V |
probably damaging |
Het |
| Ucn3 |
A |
T |
13: 3,991,216 (GRCm39) |
N145K |
possibly damaging |
Het |
| Utp18 |
A |
T |
11: 93,772,899 (GRCm39) |
|
probably null |
Het |
| Utp20 |
GAA |
GA |
10: 88,623,424 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,711 (GRCm39) |
I42T |
possibly damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,429 (GRCm39) |
M238T |
probably damaging |
Het |
| Washc5 |
G |
T |
15: 59,205,516 (GRCm39) |
A1125D |
probably benign |
Het |
| Wsb2 |
A |
G |
5: 117,508,827 (GRCm39) |
E87G |
probably damaging |
Het |
| Zfat |
G |
A |
15: 68,084,600 (GRCm39) |
P97L |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 74,523,153 (GRCm39) |
T22P |
probably damaging |
Het |
|
| Other mutations in Clstn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
|
IGL00563:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
|
IGL00733:Clstn2
|
APN |
9 |
97,365,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01303:Clstn2
|
APN |
9 |
97,365,128 (GRCm39) |
nonsense |
probably null |
|
|
IGL01935:Clstn2
|
APN |
9 |
97,345,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Clstn2
|
APN |
9 |
97,423,928 (GRCm39) |
missense |
probably benign |
|
|
IGL02974:Clstn2
|
APN |
9 |
97,414,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03164:Clstn2
|
APN |
9 |
97,681,462 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03298:Clstn2
|
APN |
9 |
97,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Clstn2
|
UTSW |
9 |
97,340,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Clstn2
|
UTSW |
9 |
97,452,681 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0992:Clstn2
|
UTSW |
9 |
97,327,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1105:Clstn2
|
UTSW |
9 |
97,465,552 (GRCm39) |
splice site |
probably null |
|
|
R1112:Clstn2
|
UTSW |
9 |
97,340,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1264:Clstn2
|
UTSW |
9 |
97,339,662 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1275:Clstn2
|
UTSW |
9 |
97,339,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1329:Clstn2
|
UTSW |
9 |
97,340,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Clstn2
|
UTSW |
9 |
97,343,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1556:Clstn2
|
UTSW |
9 |
97,338,558 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1703:Clstn2
|
UTSW |
9 |
97,340,290 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1837:Clstn2
|
UTSW |
9 |
97,465,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2911:Clstn2
|
UTSW |
9 |
97,414,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Clstn2
|
UTSW |
9 |
97,336,768 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3771:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Clstn2
|
UTSW |
9 |
97,345,648 (GRCm39) |
nonsense |
probably null |
|
|
R4049:Clstn2
|
UTSW |
9 |
97,339,613 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4334:Clstn2
|
UTSW |
9 |
97,345,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Clstn2
|
UTSW |
9 |
97,345,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4755:Clstn2
|
UTSW |
9 |
97,327,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4884:Clstn2
|
UTSW |
9 |
97,681,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Clstn2
|
UTSW |
9 |
97,365,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Clstn2
|
UTSW |
9 |
97,365,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Clstn2
|
UTSW |
9 |
97,343,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Clstn2
|
UTSW |
9 |
97,338,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5560:Clstn2
|
UTSW |
9 |
97,351,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6009:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6011:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6029:Clstn2
|
UTSW |
9 |
97,338,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6093:Clstn2
|
UTSW |
9 |
97,340,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Clstn2
|
UTSW |
9 |
97,336,727 (GRCm39) |
missense |
probably benign |
|
|
R6676:Clstn2
|
UTSW |
9 |
97,343,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Clstn2
|
UTSW |
9 |
97,408,459 (GRCm39) |
nonsense |
probably null |
|
|
R7329:Clstn2
|
UTSW |
9 |
97,343,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7382:Clstn2
|
UTSW |
9 |
97,681,451 (GRCm39) |
nonsense |
probably null |
|
|
R7410:Clstn2
|
UTSW |
9 |
97,423,920 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7549:Clstn2
|
UTSW |
9 |
97,464,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7879:Clstn2
|
UTSW |
9 |
97,351,817 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8070:Clstn2
|
UTSW |
9 |
97,681,523 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8193:Clstn2
|
UTSW |
9 |
97,465,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Clstn2
|
UTSW |
9 |
97,340,239 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9190:Clstn2
|
UTSW |
9 |
97,414,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Clstn2
|
UTSW |
9 |
97,343,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9305:Clstn2
|
UTSW |
9 |
97,343,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Clstn2
|
UTSW |
9 |
97,464,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9520:Clstn2
|
UTSW |
9 |
97,414,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9751:Clstn2
|
UTSW |
9 |
97,339,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0027:Clstn2
|
UTSW |
9 |
97,408,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clstn2
|
UTSW |
9 |
97,343,409 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGGTTAAGCTGTCTGC -3'
(R):5'- TTCCCAGGTGCTTTGGAGAAG -3'
Sequencing Primer
(F):5'- CCTCCTGCTGATCATCTGAATG -3'
(R):5'- CCAGGTGCTTTGGAGAAGATGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation