Incidental Mutation 'R9347:Clstn2'
| ID |
707864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn2
|
| Ensembl Gene |
ENSMUSG00000032452 |
| Gene Name |
calsyntenin 2 |
| Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97464654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 167
(Y167C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
| AlphaFold |
Q9ER65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035027
AA Change: Y167C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: Y167C
| 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 damaging
Transcript: ENSMUST00000162295
AA Change: Y167C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: Y167C
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,483,479 (GRCm39) |
M1659K |
probably benign |
Het |
| Ace |
C |
A |
11: 105,864,958 (GRCm39) |
Q544K |
probably damaging |
Het |
| Agpat4 |
A |
G |
17: 12,429,168 (GRCm39) |
E140G |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,640 (GRCm39) |
D150G |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,115,894 (GRCm39) |
Y999C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,607,076 (GRCm39) |
I1326V |
possibly damaging |
Het |
| Apold1 |
T |
A |
6: 134,960,999 (GRCm39) |
L151Q |
probably damaging |
Het |
| Bmal1 |
A |
G |
7: 112,898,487 (GRCm39) |
D305G |
possibly damaging |
Het |
| Brsk2 |
A |
G |
7: 141,552,133 (GRCm39) |
S564G |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,294,915 (GRCm39) |
V325A |
possibly damaging |
Het |
| Cyp11a1 |
G |
T |
9: 57,928,141 (GRCm39) |
V324L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,861,950 (GRCm39) |
T151A |
possibly damaging |
Het |
| Dhrs4 |
A |
G |
14: 55,727,306 (GRCm39) |
I252M |
possibly damaging |
Het |
| Dlg2 |
A |
G |
7: 91,360,900 (GRCm39) |
D6G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,927,333 (GRCm39) |
E1330K |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,137,391 (GRCm39) |
E520G |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,479,731 (GRCm39) |
V91A |
possibly damaging |
Het |
| Fam20c |
C |
A |
5: 138,743,676 (GRCm39) |
H237Q |
probably benign |
Het |
| Fam217a |
C |
T |
13: 35,094,662 (GRCm39) |
G366S |
probably damaging |
Het |
| Fancf |
T |
C |
7: 51,511,359 (GRCm39) |
E215G |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,664 (GRCm39) |
I301N |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,660,350 (GRCm39) |
|
probably null |
Het |
| Gen1 |
T |
C |
12: 11,311,068 (GRCm39) |
N55D |
probably damaging |
Het |
| Gm20604 |
A |
T |
12: 102,709,636 (GRCm39) |
C75S |
unknown |
Het |
| Gm3045 |
T |
A |
13: 56,578,160 (GRCm39) |
V199D |
unknown |
Het |
| Gm49368 |
A |
G |
7: 127,712,178 (GRCm39) |
T805A |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,809,921 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,313,753 (GRCm39) |
M1395V |
probably benign |
Het |
| Il17rc |
T |
G |
6: 113,457,780 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,840,347 (GRCm39) |
T318S |
probably benign |
Het |
| Kcnc1 |
A |
T |
7: 46,077,034 (GRCm39) |
N279Y |
probably damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,511,828 (GRCm39) |
H264Q |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,260,144 (GRCm39) |
V195A |
possibly damaging |
Het |
| Lhfpl2 |
A |
G |
13: 94,328,539 (GRCm39) |
E200G |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,393,548 (GRCm39) |
D300G |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,641,674 (GRCm39) |
T17A |
possibly damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,733,518 (GRCm39) |
I122N |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,871,763 (GRCm39) |
S18P |
probably benign |
Het |
| Mterf3 |
C |
T |
13: 67,062,852 (GRCm39) |
V295I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,571,511 (GRCm39) |
T336I |
unknown |
Het |
| Myo15a |
T |
C |
11: 60,374,555 (GRCm39) |
S136P |
|
Het |
| Nav3 |
T |
A |
10: 109,738,955 (GRCm39) |
I128F |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,170,594 (GRCm39) |
D928G |
probably damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,464 (GRCm39) |
I180V |
probably damaging |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,553 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,753,819 (GRCm39) |
V69E |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,995,259 (GRCm39) |
K311E |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,911 (GRCm39) |
D70G |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,155,523 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
C |
4: 98,576,484 (GRCm39) |
E574A |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,181,877 (GRCm39) |
N465S |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,786,697 (GRCm39) |
E24V |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,046,379 (GRCm39) |
K950E |
possibly damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,167,914 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc25a35 |
G |
T |
11: 68,862,076 (GRCm39) |
V170L |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 73,934,153 (GRCm39) |
L673Q |
possibly damaging |
Het |
| Smim35 |
A |
G |
9: 45,154,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 13,136,687 (GRCm39) |
M23V |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,845,288 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,471,923 (GRCm39) |
E522K |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,341,867 (GRCm39) |
T194I |
possibly damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,718,674 (GRCm39) |
E463D |
probably benign |
Het |
| Wdr1 |
C |
A |
5: 38,697,355 (GRCm39) |
|
probably null |
Het |
| Zbtb38 |
A |
T |
9: 96,567,649 (GRCm39) |
M1145K |
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 |
|
R7330: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 |
|
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'- ACCATTTGGGGCCCTTCTTG -3'
(R):5'- TGTTGAGGCCTCTTCACTAACATG -3'
Sequencing Primer
(F):5'- GGACAGTGAATTTGTCTCCTCGAC -3'
(R):5'- TCACTAACATGGCCTTGGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation