Incidental Mutation 'R7478:Camsap2'
| ID |
579588 |
| 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 |
045552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R7478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136198678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 782
(T782A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048309]
[ENSMUST00000192001]
[ENSMUST00000192314]
|
| AlphaFold |
Q8C1B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048309
AA Change: T1447A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: T1447A
| 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 |
possibly damaging
Transcript: ENSMUST00000192001
AA Change: T1430A
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: T1430A
| 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 |
possibly damaging
Transcript: ENSMUST00000192314
AA Change: T1441A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: T1441A
| 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 |
|
| Meta Mutation Damage Score |
0.5940 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl2 |
A |
G |
6: 29,903,266 (GRCm39) |
R516G |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,087 (GRCm39) |
F948S |
|
Het |
| Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
| Ankrd34a |
T |
C |
3: 96,505,816 (GRCm39) |
L340P |
possibly damaging |
Het |
| Arid1a |
T |
A |
4: 133,412,482 (GRCm39) |
R1186W |
unknown |
Het |
| Arpc4 |
T |
A |
6: 113,361,092 (GRCm39) |
M95K |
possibly damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,684,744 (GRCm39) |
E790G |
possibly damaging |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,624 (GRCm39) |
N103D |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,971,055 (GRCm39) |
I706M |
probably benign |
Het |
| Cbx2 |
T |
C |
11: 118,919,941 (GRCm39) |
V502A |
probably damaging |
Het |
| Cd72 |
T |
G |
4: 43,454,515 (GRCm39) |
I5L |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,720,777 (GRCm39) |
Y2609C |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Efcc1 |
T |
C |
6: 87,707,972 (GRCm39) |
V33A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,177,709 (GRCm39) |
L367* |
probably null |
Het |
| Eml2 |
T |
A |
7: 18,940,066 (GRCm39) |
L627* |
probably null |
Het |
| F13b |
A |
G |
1: 139,435,433 (GRCm39) |
T193A |
probably benign |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Ifna7 |
T |
A |
4: 88,734,913 (GRCm39) |
I150N |
probably damaging |
Het |
| Man2b2 |
G |
A |
5: 36,967,657 (GRCm39) |
H904Y |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,991,156 (GRCm39) |
T389A |
possibly damaging |
Het |
| Myo19 |
A |
T |
11: 84,776,626 (GRCm39) |
H94L |
probably benign |
Het |
| Naglu |
T |
C |
11: 100,962,725 (GRCm39) |
Y177H |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nxn |
A |
T |
11: 76,152,378 (GRCm39) |
V372E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,984,242 (GRCm39) |
R1738C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,714,410 (GRCm39) |
E266G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,879,441 (GRCm39) |
N920S |
|
Het |
| Pkd1l3 |
C |
A |
8: 110,359,947 (GRCm39) |
T944K |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,894,168 (GRCm39) |
E133* |
probably null |
Het |
| Qser1 |
G |
A |
2: 104,619,859 (GRCm39) |
L228F |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,605 (GRCm39) |
I69T |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,506,577 (GRCm39) |
S391T |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,333 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
| Slfn5 |
A |
G |
11: 82,851,442 (GRCm39) |
K580E |
probably damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,377 (GRCm39) |
Y111C |
unknown |
Het |
| Tagap |
C |
A |
17: 8,152,422 (GRCm39) |
Q536K |
possibly damaging |
Het |
| Tank |
T |
C |
2: 61,480,513 (GRCm39) |
C351R |
probably damaging |
Het |
| Tarbp2 |
A |
T |
15: 102,430,169 (GRCm39) |
M144L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,951,476 (GRCm39) |
Y89H |
probably damaging |
Het |
| Tecpr2 |
C |
A |
12: 110,934,873 (GRCm39) |
T1373K |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,055,349 (GRCm39) |
P434L |
probably damaging |
Het |
| Tmed5 |
A |
G |
5: 108,272,495 (GRCm39) |
V201A |
probably benign |
Het |
| Ust |
A |
G |
10: 8,266,650 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,767 (GRCm39) |
T215A |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,251 (GRCm39) |
Q126H |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
|
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 |
|
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'- TTCACAACAACAGAGTTAAGGTCC -3'
(R):5'- TCTTGTTCCGGGATTCAGGC -3'
Sequencing Primer
(F):5'- CTTGTTGGCAATTAGAAAGGTTTTTC -3'
(R):5'- ATTCAGGCTGCCAGTTCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation