Incidental Mutation 'R0140:Camsap2'
ID |
22230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap2
|
Ensembl Gene |
ENSMUSG00000041570 |
Gene Name |
calmodulin regulated spectrin-associated protein family, member 2 |
Synonyms |
1600013L13Rik, 4930541M15Rik, Camsap1l1 |
MMRRC Submission |
038425-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.549)
|
Stock # |
R0140 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 136208120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1124
(V1124D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048309]
[ENSMUST00000192001]
[ENSMUST00000192314]
|
AlphaFold |
Q8C1B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048309
AA Change: V1130D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041920 Gene: ENSMUSG00000041570 AA Change: V1130D
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
239 |
322 |
3.6e-37 |
PFAM |
low complexity region
|
379 |
388 |
N/A |
INTRINSIC |
low complexity region
|
397 |
410 |
N/A |
INTRINSIC |
low complexity region
|
483 |
491 |
N/A |
INTRINSIC |
low complexity region
|
671 |
690 |
N/A |
INTRINSIC |
low complexity region
|
706 |
711 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CC1
|
738 |
795 |
7.3e-28 |
PFAM |
coiled coil region
|
878 |
916 |
N/A |
INTRINSIC |
low complexity region
|
922 |
929 |
N/A |
INTRINSIC |
low complexity region
|
943 |
956 |
N/A |
INTRINSIC |
low complexity region
|
1028 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1107 |
N/A |
INTRINSIC |
coiled coil region
|
1155 |
1227 |
N/A |
INTRINSIC |
low complexity region
|
1242 |
1256 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1337 |
1466 |
1.59e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192001
AA Change: V1113D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142166 Gene: ENSMUSG00000041570 AA Change: V1113D
Domain | Start | End | E-Value | Type |
Pfam:CH
|
178 |
324 |
1.1e-37 |
PFAM |
Pfam:CAMSAP_CH
|
222 |
305 |
2.7e-36 |
PFAM |
low complexity region
|
362 |
371 |
N/A |
INTRINSIC |
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
low complexity region
|
466 |
474 |
N/A |
INTRINSIC |
low complexity region
|
654 |
673 |
N/A |
INTRINSIC |
low complexity region
|
689 |
694 |
N/A |
INTRINSIC |
coiled coil region
|
729 |
767 |
N/A |
INTRINSIC |
coiled coil region
|
861 |
899 |
N/A |
INTRINSIC |
low complexity region
|
905 |
912 |
N/A |
INTRINSIC |
low complexity region
|
926 |
939 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1026 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1090 |
N/A |
INTRINSIC |
coiled coil region
|
1138 |
1210 |
N/A |
INTRINSIC |
low complexity region
|
1225 |
1239 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1320 |
1449 |
1.59e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192314
AA Change: V1124D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142299 Gene: ENSMUSG00000041570 AA Change: V1124D
Domain | Start | End | E-Value | Type |
Pfam:CH
|
178 |
335 |
1.2e-35 |
PFAM |
Pfam:CAMSAP_CH
|
233 |
316 |
3.2e-34 |
PFAM |
low complexity region
|
373 |
382 |
N/A |
INTRINSIC |
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
low complexity region
|
477 |
485 |
N/A |
INTRINSIC |
low complexity region
|
665 |
684 |
N/A |
INTRINSIC |
low complexity region
|
700 |
705 |
N/A |
INTRINSIC |
coiled coil region
|
740 |
778 |
N/A |
INTRINSIC |
coiled coil region
|
872 |
910 |
N/A |
INTRINSIC |
low complexity region
|
916 |
923 |
N/A |
INTRINSIC |
low complexity region
|
937 |
950 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1037 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1101 |
N/A |
INTRINSIC |
coiled coil region
|
1149 |
1221 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1250 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1331 |
1460 |
1.2e-90 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194808
AA Change: V456D
|
Meta Mutation Damage Score |
0.0688 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
98% (79/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
9330161L09Rik |
T |
C |
12: 103,373,587 (GRCm39) |
|
probably benign |
Het |
Abca2 |
T |
G |
2: 25,328,097 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
T |
C |
5: 30,401,379 (GRCm39) |
K13R |
probably benign |
Het |
Arhgap15 |
C |
A |
2: 44,212,779 (GRCm39) |
F416L |
probably damaging |
Het |
Arhgef26 |
C |
G |
3: 62,355,666 (GRCm39) |
T746R |
probably benign |
Het |
Aspm |
C |
T |
1: 139,408,379 (GRCm39) |
T2422I |
probably benign |
Het |
Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
AY358078 |
T |
A |
14: 52,063,399 (GRCm39) |
D348E |
probably benign |
Het |
Blnk |
A |
T |
19: 40,928,668 (GRCm39) |
S285T |
probably damaging |
Het |
Calr3 |
C |
T |
8: 73,188,732 (GRCm39) |
|
probably benign |
Het |
Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
Ccdc69 |
C |
A |
11: 54,941,325 (GRCm39) |
C196F |
possibly damaging |
Het |
Cdhr3 |
T |
G |
12: 33,130,412 (GRCm39) |
N141T |
probably benign |
Het |
Cdk4 |
T |
C |
10: 126,900,214 (GRCm39) |
V37A |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,305,249 (GRCm39) |
R2110K |
probably benign |
Het |
Clcn7 |
A |
G |
17: 25,372,728 (GRCm39) |
Y437C |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,579,474 (GRCm39) |
F1917S |
probably damaging |
Het |
Cps1 |
T |
G |
1: 67,219,275 (GRCm39) |
S872A |
probably benign |
Het |
Crebbp |
G |
T |
16: 3,935,363 (GRCm39) |
T842N |
probably damaging |
Het |
Dennd2d |
G |
A |
3: 106,399,799 (GRCm39) |
V234I |
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,523 (GRCm39) |
M130V |
possibly damaging |
Het |
Fbxw24 |
G |
T |
9: 109,434,482 (GRCm39) |
L373I |
possibly damaging |
Het |
Fubp3 |
T |
C |
2: 31,498,196 (GRCm39) |
Y359H |
probably damaging |
Het |
Gm19684 |
T |
C |
17: 36,438,319 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,238,800 (GRCm39) |
Q3013* |
probably null |
Het |
Il12rb1 |
T |
C |
8: 71,272,415 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
T |
4: 101,625,264 (GRCm39) |
D473V |
probably damaging |
Het |
Myof |
A |
T |
19: 37,940,004 (GRCm39) |
Y820* |
probably null |
Het |
Nfil3 |
G |
A |
13: 53,121,681 (GRCm39) |
Q408* |
probably null |
Het |
Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
Npbwr1 |
A |
C |
1: 5,986,840 (GRCm39) |
Y225D |
probably damaging |
Het |
Nrip3 |
T |
C |
7: 109,361,022 (GRCm39) |
|
probably benign |
Het |
Ntrk1 |
A |
C |
3: 87,685,875 (GRCm39) |
L749R |
probably damaging |
Het |
Or10ag53 |
A |
G |
2: 87,082,969 (GRCm39) |
I229M |
probably damaging |
Het |
Or2b11 |
A |
G |
11: 59,461,804 (GRCm39) |
L254P |
probably damaging |
Het |
Or4c126 |
T |
A |
2: 89,824,463 (GRCm39) |
V242D |
probably damaging |
Het |
Or52a24 |
A |
G |
7: 103,381,349 (GRCm39) |
D72G |
probably damaging |
Het |
Or6c211 |
G |
T |
10: 129,505,557 (GRCm39) |
T277N |
probably damaging |
Het |
Paox |
A |
T |
7: 139,713,971 (GRCm39) |
T244S |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,536,014 (GRCm39) |
D669E |
possibly damaging |
Het |
Pggt1b |
A |
G |
18: 46,391,150 (GRCm39) |
|
probably null |
Het |
Phkg1 |
T |
A |
5: 129,893,449 (GRCm39) |
I334F |
probably benign |
Het |
Phtf1 |
A |
T |
3: 103,894,876 (GRCm39) |
R208W |
probably null |
Het |
Pnliprp2 |
A |
T |
19: 58,754,795 (GRCm39) |
I280F |
probably benign |
Het |
Pnma8a |
A |
G |
7: 16,694,147 (GRCm39) |
M1V |
probably null |
Het |
Prcp |
A |
G |
7: 92,577,819 (GRCm39) |
T328A |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,521,532 (GRCm39) |
N541K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,486,315 (GRCm39) |
F315L |
possibly damaging |
Het |
Septin2 |
A |
G |
1: 93,429,361 (GRCm39) |
R237G |
probably damaging |
Het |
Setd6 |
T |
A |
8: 96,442,737 (GRCm39) |
L58Q |
probably damaging |
Het |
Sipa1l1 |
G |
A |
12: 82,442,974 (GRCm39) |
V755I |
probably damaging |
Het |
Slc16a12 |
G |
T |
19: 34,650,104 (GRCm39) |
|
probably benign |
Het |
Slk |
G |
A |
19: 47,610,774 (GRCm39) |
D815N |
probably damaging |
Het |
Stx1a |
T |
C |
5: 135,074,439 (GRCm39) |
|
probably benign |
Het |
Tbc1d15 |
T |
A |
10: 115,056,124 (GRCm39) |
I283F |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,545,259 (GRCm39) |
I2425T |
possibly damaging |
Het |
Tle1 |
G |
A |
4: 72,038,422 (GRCm39) |
H702Y |
probably damaging |
Het |
Tmc6 |
A |
G |
11: 117,657,077 (GRCm39) |
|
probably benign |
Het |
Tmem268 |
G |
A |
4: 63,496,096 (GRCm39) |
R179H |
possibly damaging |
Het |
Tmem9 |
A |
G |
1: 135,961,900 (GRCm39) |
K165R |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,796,558 (GRCm39) |
|
probably null |
Het |
Tufm |
C |
T |
7: 126,089,003 (GRCm39) |
P88S |
probably damaging |
Het |
Ubqln1 |
A |
G |
13: 58,341,103 (GRCm39) |
I216T |
probably damaging |
Het |
Urad |
T |
G |
5: 147,259,141 (GRCm39) |
M1L |
probably benign |
Het |
Utp6 |
A |
G |
11: 79,847,551 (GRCm39) |
|
probably benign |
Het |
Vav2 |
C |
T |
2: 27,163,688 (GRCm39) |
|
probably benign |
Het |
Vmn2r55 |
G |
T |
7: 12,402,104 (GRCm39) |
Q395K |
possibly damaging |
Het |
Wwox |
T |
G |
8: 115,433,027 (GRCm39) |
V231G |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,482,678 (GRCm39) |
N1618K |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,790,377 (GRCm39) |
M2110I |
possibly damaging |
Het |
|
Other mutations in Camsap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Camsap2
|
APN |
1 |
136,225,528 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02727:Camsap2
|
APN |
1 |
136,232,050 (GRCm39) |
missense |
probably benign |
|
IGL02803:Camsap2
|
APN |
1 |
136,208,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Camsap2
|
APN |
1 |
136,202,595 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Camsap2
|
APN |
1 |
136,202,537 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03189:Camsap2
|
APN |
1 |
136,209,400 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Camsap2
|
APN |
1 |
136,225,539 (GRCm39) |
missense |
probably benign |
|
IGL03347:Camsap2
|
APN |
1 |
136,208,724 (GRCm39) |
missense |
possibly damaging |
0.52 |
ANU23:Camsap2
|
UTSW |
1 |
136,225,528 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4366001:Camsap2
|
UTSW |
1 |
136,208,055 (GRCm39) |
missense |
|
|
R0001:Camsap2
|
UTSW |
1 |
136,210,626 (GRCm39) |
unclassified |
probably benign |
|
R0037:Camsap2
|
UTSW |
1 |
136,209,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Camsap2
|
UTSW |
1 |
136,220,686 (GRCm39) |
nonsense |
probably null |
|
R0206:Camsap2
|
UTSW |
1 |
136,208,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0208:Camsap2
|
UTSW |
1 |
136,208,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0517:Camsap2
|
UTSW |
1 |
136,221,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0648:Camsap2
|
UTSW |
1 |
136,232,057 (GRCm39) |
missense |
probably damaging |
0.96 |
R0735:Camsap2
|
UTSW |
1 |
136,220,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0790:Camsap2
|
UTSW |
1 |
136,201,475 (GRCm39) |
splice site |
probably benign |
|
R0880:Camsap2
|
UTSW |
1 |
136,208,708 (GRCm39) |
missense |
probably benign |
0.08 |
R1559:Camsap2
|
UTSW |
1 |
136,209,832 (GRCm39) |
missense |
probably benign |
0.02 |
R1728:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1823:Camsap2
|
UTSW |
1 |
136,201,521 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1824:Camsap2
|
UTSW |
1 |
136,201,521 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1997:Camsap2
|
UTSW |
1 |
136,199,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Camsap2
|
UTSW |
1 |
136,202,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Camsap2
|
UTSW |
1 |
136,273,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Camsap2
|
UTSW |
1 |
136,208,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4275:Camsap2
|
UTSW |
1 |
136,198,614 (GRCm39) |
missense |
probably benign |
0.01 |
R4371:Camsap2
|
UTSW |
1 |
136,215,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4976:Camsap2
|
UTSW |
1 |
136,232,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Camsap2
|
UTSW |
1 |
136,202,629 (GRCm39) |
intron |
probably benign |
|
R5513:Camsap2
|
UTSW |
1 |
136,208,601 (GRCm39) |
missense |
probably benign |
0.23 |
R5755:Camsap2
|
UTSW |
1 |
136,210,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Camsap2
|
UTSW |
1 |
136,208,126 (GRCm39) |
missense |
probably benign |
|
R5966:Camsap2
|
UTSW |
1 |
136,204,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Camsap2
|
UTSW |
1 |
136,208,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6031:Camsap2
|
UTSW |
1 |
136,208,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6111:Camsap2
|
UTSW |
1 |
136,209,036 (GRCm39) |
missense |
probably benign |
|
R6147:Camsap2
|
UTSW |
1 |
136,273,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Camsap2
|
UTSW |
1 |
136,232,175 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6293:Camsap2
|
UTSW |
1 |
136,215,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Camsap2
|
UTSW |
1 |
136,208,937 (GRCm39) |
missense |
probably benign |
|
R6403:Camsap2
|
UTSW |
1 |
136,208,538 (GRCm39) |
nonsense |
probably null |
|
R6410:Camsap2
|
UTSW |
1 |
136,273,182 (GRCm39) |
start gained |
probably benign |
|
R6943:Camsap2
|
UTSW |
1 |
136,232,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Camsap2
|
UTSW |
1 |
136,201,483 (GRCm39) |
splice site |
probably null |
|
R7448:Camsap2
|
UTSW |
1 |
136,198,644 (GRCm39) |
missense |
|
|
R7472:Camsap2
|
UTSW |
1 |
136,209,131 (GRCm39) |
missense |
probably damaging |
0.96 |
R7478:Camsap2
|
UTSW |
1 |
136,198,678 (GRCm39) |
missense |
|
|
R7515:Camsap2
|
UTSW |
1 |
136,273,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R7691:Camsap2
|
UTSW |
1 |
136,220,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R7800:Camsap2
|
UTSW |
1 |
136,209,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R8040:Camsap2
|
UTSW |
1 |
136,208,985 (GRCm39) |
missense |
|
|
R8188:Camsap2
|
UTSW |
1 |
136,225,132 (GRCm39) |
splice site |
probably null |
|
R8238:Camsap2
|
UTSW |
1 |
136,221,764 (GRCm39) |
missense |
probably benign |
0.03 |
R8258:Camsap2
|
UTSW |
1 |
136,208,077 (GRCm39) |
missense |
probably benign |
0.00 |
R8259:Camsap2
|
UTSW |
1 |
136,208,077 (GRCm39) |
missense |
probably benign |
0.00 |
R8537:Camsap2
|
UTSW |
1 |
136,204,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R8782:Camsap2
|
UTSW |
1 |
136,204,957 (GRCm39) |
missense |
|
|
R9301:Camsap2
|
UTSW |
1 |
136,202,640 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9600:Camsap2
|
UTSW |
1 |
136,204,936 (GRCm39) |
missense |
|
|
X0018:Camsap2
|
UTSW |
1 |
136,204,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGCATGATGGCATGACTGTG -3'
(R):5'- CAAAGGGACTTTGGGACCTTGTGAC -3'
Sequencing Primer
(F):5'- CTCTGAGTCCACACTGGAATATGG -3'
(R):5'- GGGACCTTGTGACCATAATCCTG -3'
|
Posted On |
2013-04-16 |