Incidental Mutation 'R0206:Camsap2'
ID |
35432 |
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 |
038459-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.549)
|
Stock # |
R0206 (G1)
|
Quality Score |
181 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 136208738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 918
(P918R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048309]
[ENSMUST00000192001]
[ENSMUST00000192314]
|
AlphaFold |
Q8C1B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048309
AA Change: P924R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041920 Gene: ENSMUSG00000041570 AA Change: P924R
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 damaging
Transcript: ENSMUST00000192001
AA Change: P907R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142166 Gene: ENSMUSG00000041570 AA Change: P907R
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 damaging
Transcript: ENSMUST00000192314
AA Change: P918R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142299 Gene: ENSMUSG00000041570 AA Change: P918R
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 |
probably damaging
Transcript: ENSMUST00000194808
AA Change: P250R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.2130 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
Validation Efficiency |
99% (83/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,269,001 (GRCm39) |
K221E |
probably benign |
Het |
Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
Adgrb2 |
T |
C |
4: 129,886,352 (GRCm39) |
L164P |
probably damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
Btbd8 |
A |
G |
5: 107,652,906 (GRCm39) |
T304A |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
Cdca3 |
C |
T |
6: 124,809,514 (GRCm39) |
|
probably benign |
Het |
Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Csgalnact2 |
T |
G |
6: 118,091,347 (GRCm39) |
Q197P |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
Ddt |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
Gabra6 |
C |
T |
11: 42,207,906 (GRCm39) |
W188* |
probably null |
Het |
Gnptab |
A |
T |
10: 88,275,372 (GRCm39) |
H1111L |
probably damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,870,062 (GRCm39) |
S113P |
probably damaging |
Het |
Kctd8 |
A |
T |
5: 69,498,508 (GRCm39) |
V46E |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
Mvk |
C |
T |
5: 114,597,035 (GRCm39) |
T334M |
probably damaging |
Het |
Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Pomgnt1 |
T |
C |
4: 116,015,757 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
Psme3ip1 |
A |
G |
8: 95,314,639 (GRCm39) |
F73S |
probably damaging |
Het |
Rlig1 |
T |
A |
10: 100,422,056 (GRCm39) |
K69* |
probably null |
Het |
Rmdn2 |
T |
A |
17: 79,957,716 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,691,137 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
Slc1a3 |
A |
G |
15: 8,738,040 (GRCm39) |
|
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Snx33 |
G |
A |
9: 56,833,508 (GRCm39) |
S187L |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
Tinag |
A |
G |
9: 76,907,134 (GRCm39) |
I367T |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,483,094 (GRCm39) |
H58R |
probably benign |
Het |
Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,939,569 (GRCm39) |
Y275C |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,846,444 (GRCm39) |
|
probably benign |
Het |
Vwf |
T |
C |
6: 125,614,419 (GRCm39) |
F1100S |
probably damaging |
Het |
Zfp318 |
G |
T |
17: 46,709,945 (GRCm39) |
R556L |
probably benign |
Het |
Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
probably 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 |
R0140:Camsap2
|
UTSW |
1 |
136,208,120 (GRCm39) |
missense |
probably benign |
|
R0194:Camsap2
|
UTSW |
1 |
136,220,686 (GRCm39) |
nonsense |
probably null |
|
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'- GGAGGTGTCAAGGTTCGGTTCAAAG -3'
(R):5'- AACCACGCCTGTTGATCCTGAGAG -3'
Sequencing Primer
(F):5'- TAATTCATTTGGCCTTGGAGTCC -3'
(R):5'- TGGAACCTGACAAGCCCTTC -3'
|
Posted On |
2013-05-09 |