Incidental Mutation 'R7515:Camsap2'
| ID |
582371 |
| 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 |
045588-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.671)
|
| Stock # |
R7515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136273108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 23
(D23G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048309]
[ENSMUST00000192001]
[ENSMUST00000192314]
|
| AlphaFold |
Q8C1B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048309
AA Change: D23G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: D23G
| 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: D23G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: D23G
| 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: D23G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: D23G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
T |
11: 5,578,905 (GRCm39) |
E56D |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,514 (GRCm39) |
Y182C |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,986,179 (GRCm39) |
N273Y |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,015 (GRCm39) |
E217G |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,993,882 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,279,240 (GRCm39) |
H374R |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,197 (GRCm39) |
V159A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,884,645 (GRCm39) |
D614E |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,673,412 (GRCm39) |
G103R |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,596 (GRCm39) |
Y317C |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,508 (GRCm39) |
V860A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,672,815 (GRCm39) |
D553G |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,496,450 (GRCm39) |
S112P |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,732,240 (GRCm39) |
F4222S |
probably benign |
Het |
| Ei24 |
T |
C |
9: 36,701,211 (GRCm39) |
D36G |
probably damaging |
Het |
| Etv3 |
G |
T |
3: 87,435,363 (GRCm39) |
R78L |
possibly damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,767,798 (GRCm39) |
L437P |
possibly damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,970 (GRCm39) |
D133G |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,045,660 (GRCm39) |
D150V |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,373,092 (GRCm39) |
L9P |
probably damaging |
Het |
| H2-M10.3 |
G |
A |
17: 36,677,435 (GRCm39) |
T281I |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,537,830 (GRCm39) |
S532P |
not run |
Het |
| Itpr2 |
T |
C |
6: 146,228,608 (GRCm39) |
D1329G |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,704,191 (GRCm39) |
N384K |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,662,290 (GRCm39) |
V255A |
possibly damaging |
Het |
| Kifc1 |
A |
G |
17: 34,103,777 (GRCm39) |
L182P |
probably damaging |
Het |
| Lgals8 |
G |
A |
13: 12,463,343 (GRCm39) |
R198* |
probably null |
Het |
| Lrrk1 |
A |
T |
7: 65,912,310 (GRCm39) |
M1750K |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,830,251 (GRCm39) |
|
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
| Mcc |
G |
T |
18: 44,626,499 (GRCm39) |
H366N |
probably benign |
Het |
| Mif4gd |
A |
G |
11: 115,499,222 (GRCm39) |
V220A |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,270,037 (GRCm39) |
F708L |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,550,958 (GRCm39) |
W5112R |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,380 (GRCm39) |
I140T |
probably benign |
Het |
| Nid2 |
C |
A |
14: 19,841,635 (GRCm39) |
Q887K |
probably benign |
Het |
| Nop16 |
A |
T |
13: 54,737,550 (GRCm39) |
S48T |
possibly damaging |
Het |
| Nrap |
G |
A |
19: 56,354,859 (GRCm39) |
T489I |
possibly damaging |
Het |
| Oas1e |
C |
T |
5: 120,929,951 (GRCm39) |
G189D |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,250 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,949 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,095,171 (GRCm39) |
D560V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
C |
T |
16: 45,594,603 (GRCm39) |
D901N |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,212,035 (GRCm39) |
H2058R |
|
Het |
| Ptgis |
T |
A |
2: 167,048,758 (GRCm39) |
K419N |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,022,266 (GRCm39) |
F1714L |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,434,353 (GRCm39) |
|
probably null |
Het |
| Recql |
C |
T |
6: 142,320,611 (GRCm39) |
D146N |
probably damaging |
Het |
| Rnf6 |
T |
G |
5: 146,148,602 (GRCm39) |
S139R |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,067,631 (GRCm39) |
S1301P |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
A |
6: 113,087,850 (GRCm39) |
I137N |
probably damaging |
Het |
| Sf3b6 |
G |
A |
12: 4,870,619 (GRCm39) |
R19Q |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,020,496 (GRCm39) |
H279L |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,681,711 (GRCm39) |
T175A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,470,820 (GRCm39) |
N36I |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,268,090 (GRCm39) |
F585C |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,632,507 (GRCm39) |
V1070L |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,846 (GRCm39) |
M658L |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,546,349 (GRCm39) |
D150G |
unknown |
Het |
| Zfp607b |
T |
C |
7: 27,402,921 (GRCm39) |
V459A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,982,427 (GRCm39) |
R71G |
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 |
|
|
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 |
|
|
|
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'- AAGACCAAACCTGCCTTCTTTC -3'
(R):5'- CACAGCTGAGCTTTTCCGTG -3'
Sequencing Primer
(F):5'- TCTCCCTAAACCTGTACCGGAAG -3'
(R):5'- GACGATCTGAACTCCTCT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation