Incidental Mutation 'R5834:Camsap2'
ID |
449436 |
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 |
044055-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.671)
|
Stock # |
R5834 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136208126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1122
(V1122A)
|
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: V1128A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041920 Gene: ENSMUSG00000041570 AA Change: V1128A
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: V1111A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142166 Gene: ENSMUSG00000041570 AA Change: V1111A
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: V1122A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142299 Gene: ENSMUSG00000041570 AA Change: V1122A
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: V454A
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,227,974 (GRCm39) |
|
probably null |
Het |
Adamts20 |
A |
C |
15: 94,251,465 (GRCm39) |
S441A |
probably damaging |
Het |
Aen |
T |
A |
7: 78,557,049 (GRCm39) |
M299K |
probably damaging |
Het |
Akap3 |
T |
C |
6: 126,842,796 (GRCm39) |
S472P |
probably benign |
Het |
Ank3 |
T |
G |
10: 69,658,087 (GRCm39) |
V158G |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,622,955 (GRCm39) |
D324G |
probably benign |
Het |
Aste1 |
A |
T |
9: 105,280,614 (GRCm39) |
R448S |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,308,366 (GRCm39) |
L55Q |
probably benign |
Het |
C1qtnf9 |
G |
A |
14: 61,016,899 (GRCm39) |
G143D |
probably damaging |
Het |
Cbl |
T |
C |
9: 44,145,076 (GRCm39) |
H37R |
probably damaging |
Het |
Cfap61 |
A |
C |
2: 145,971,069 (GRCm39) |
D893A |
probably benign |
Het |
Chd2 |
T |
A |
7: 73,128,463 (GRCm39) |
I841F |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,723,792 (GRCm39) |
T622A |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,896,391 (GRCm39) |
Y1028H |
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,030,511 (GRCm39) |
I448V |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,083,289 (GRCm39) |
|
probably null |
Het |
Dcaf13 |
C |
T |
15: 39,007,037 (GRCm39) |
R324* |
probably null |
Het |
Dhx37 |
C |
A |
5: 125,502,794 (GRCm39) |
R42L |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,365,662 (GRCm39) |
V450E |
probably damaging |
Het |
Ednrb |
A |
G |
14: 104,058,313 (GRCm39) |
L330P |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,785,170 (GRCm39) |
H778Q |
probably damaging |
Het |
Evx1 |
T |
A |
6: 52,292,975 (GRCm39) |
I227N |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,388,766 (GRCm39) |
V326E |
probably benign |
Het |
Gata2 |
T |
C |
6: 88,177,729 (GRCm39) |
V253A |
probably benign |
Het |
Gbp2 |
A |
G |
3: 142,339,138 (GRCm39) |
N397D |
probably damaging |
Het |
Gm14401 |
C |
A |
2: 176,778,696 (GRCm39) |
H261N |
probably benign |
Het |
Hacd4 |
A |
T |
4: 88,316,389 (GRCm39) |
H243Q |
probably benign |
Het |
Hsd3b1 |
C |
A |
3: 98,760,255 (GRCm39) |
K245N |
possibly damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ift27 |
A |
T |
15: 78,049,443 (GRCm39) |
C86S |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Irs3 |
T |
A |
5: 137,642,821 (GRCm39) |
S206C |
probably damaging |
Het |
Lefty2 |
C |
T |
1: 180,720,716 (GRCm39) |
|
probably benign |
Het |
Mark3 |
A |
G |
12: 111,590,921 (GRCm39) |
I162V |
probably damaging |
Het |
Matcap1 |
G |
A |
8: 106,008,755 (GRCm39) |
Q421* |
probably null |
Het |
Mefv |
A |
C |
16: 3,533,910 (GRCm39) |
D120E |
probably damaging |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,710,953 (GRCm39) |
I45V |
probably benign |
Het |
Mtor |
A |
G |
4: 148,620,993 (GRCm39) |
N1797S |
possibly damaging |
Het |
Nav1 |
A |
C |
1: 135,460,144 (GRCm39) |
M393R |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,391,267 (GRCm39) |
S510P |
possibly damaging |
Het |
Nos2 |
C |
T |
11: 78,819,405 (GRCm39) |
T39I |
probably benign |
Het |
Or2h1b |
A |
T |
17: 37,462,690 (GRCm39) |
Y58N |
probably damaging |
Het |
Or5p54 |
T |
A |
7: 107,554,113 (GRCm39) |
H88Q |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,878,970 (GRCm39) |
S842G |
possibly damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
Plaa |
A |
C |
4: 94,471,706 (GRCm39) |
V10G |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,053,659 (GRCm39) |
|
probably benign |
Het |
Ptprt |
T |
C |
2: 161,402,189 (GRCm39) |
Y994C |
probably damaging |
Het |
Ripply2 |
T |
A |
9: 86,897,943 (GRCm39) |
W37R |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,395,839 (GRCm39) |
D1227G |
probably damaging |
Het |
Scoc |
C |
T |
8: 84,164,260 (GRCm39) |
D10N |
possibly damaging |
Het |
Sdk2 |
A |
T |
11: 113,745,099 (GRCm39) |
I732N |
probably damaging |
Het |
Six2 |
T |
C |
17: 85,995,092 (GRCm39) |
K97E |
probably damaging |
Het |
Slit2 |
A |
C |
5: 48,416,989 (GRCm39) |
N1014H |
probably damaging |
Het |
Smc1b |
A |
C |
15: 84,973,866 (GRCm39) |
L930R |
probably damaging |
Het |
Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
Spata31 |
C |
T |
13: 65,070,480 (GRCm39) |
S876L |
probably benign |
Het |
Spen |
A |
G |
4: 141,199,154 (GRCm39) |
Y3135H |
possibly damaging |
Het |
Spta1 |
A |
T |
1: 174,012,363 (GRCm39) |
|
probably null |
Het |
Stk3 |
G |
A |
15: 34,959,164 (GRCm39) |
T336I |
probably damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,876 (GRCm39) |
T62S |
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,454,169 (GRCm39) |
M212T |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,923,971 (GRCm39) |
L738P |
probably damaging |
Het |
Ttll8 |
A |
G |
15: 88,801,449 (GRCm39) |
V413A |
possibly damaging |
Het |
Usb1 |
G |
A |
8: 96,060,161 (GRCm39) |
|
probably benign |
Het |
Vmn1r238 |
T |
C |
18: 3,123,168 (GRCm39) |
E82G |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,529,599 (GRCm39) |
T168A |
possibly damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,765,932 (GRCm39) |
P13H |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,030,712 (GRCm39) |
L194P |
probably damaging |
Het |
Zfhx2 |
G |
A |
14: 55,310,787 (GRCm39) |
Q636* |
probably null |
Het |
Zfyve26 |
A |
G |
12: 79,313,311 (GRCm39) |
Y25H |
probably benign |
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 |
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'- CAAGGTCTGGTTTGCCTAGAC -3'
(R):5'- GGTGTTGTCACAGCCTATCACAG -3'
Sequencing Primer
(F):5'- GGTTTGCCTAGACACATTTCAGGAC -3'
(R):5'- TTGTCACAGCCTATCACAGAGACTG -3'
|
Posted On |
2016-12-20 |