Incidental Mutation 'R6147:Camsap2'
| ID |
488922 |
| 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 |
044294-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R6147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 136273138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 13
(T13M)
|
| 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: T13M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: T13M
| 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: T13M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: T13M
| 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: T13M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: T13M
| 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 |
noncoding transcript
Transcript: ENSMUST00000194730
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,657,157 (GRCm39) |
|
probably benign |
Het |
| Acsf3 |
T |
A |
8: 123,508,213 (GRCm39) |
D236E |
probably damaging |
Het |
| Aqp1 |
G |
T |
6: 55,313,595 (GRCm39) |
E40D |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,436,485 (GRCm39) |
V97A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,134 (GRCm39) |
Y165* |
probably null |
Het |
| Bclaf1 |
T |
A |
10: 20,199,171 (GRCm39) |
D189E |
possibly damaging |
Het |
| Cblif |
G |
A |
19: 11,724,936 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 10,012,894 (GRCm39) |
Y297F |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,978,506 (GRCm39) |
C174Y |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Comtd1 |
C |
A |
14: 21,898,883 (GRCm39) |
A20S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,796,056 (GRCm39) |
R1264W |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,294 (GRCm39) |
C180S |
probably benign |
Het |
| Ednra |
C |
T |
8: 78,393,951 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,858,566 (GRCm39) |
V3875A |
unknown |
Het |
| Ephb6 |
A |
T |
6: 41,593,715 (GRCm39) |
S533C |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,972,594 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,806,717 (GRCm39) |
I158T |
probably benign |
Het |
| Gm14325 |
A |
T |
2: 177,474,600 (GRCm39) |
C161S |
probably damaging |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,840 (GRCm39) |
Q20L |
probably damaging |
Het |
| Khnyn |
G |
C |
14: 56,125,060 (GRCm39) |
S438T |
probably damaging |
Het |
| Krt9 |
T |
C |
11: 100,079,665 (GRCm39) |
S576G |
unknown |
Het |
| Lrriq4 |
A |
T |
3: 30,713,228 (GRCm39) |
N443I |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,374 (GRCm39) |
Y199C |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,840,776 (GRCm39) |
Y268* |
probably null |
Het |
| Men1 |
T |
A |
19: 6,387,272 (GRCm39) |
D248E |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,573 (GRCm39) |
C261S |
probably benign |
Het |
| Mpeg1 |
T |
G |
19: 12,440,258 (GRCm39) |
I572S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,113 (GRCm39) |
V204A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,945 (GRCm39) |
C805* |
probably null |
Het |
| Nphs2 |
A |
T |
1: 156,146,296 (GRCm39) |
K91* |
probably null |
Het |
| Obox3 |
A |
G |
7: 15,359,926 (GRCm39) |
S248P |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,430 (GRCm39) |
I111T |
probably benign |
Het |
| Or5w19 |
C |
T |
2: 87,699,061 (GRCm39) |
T242I |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,162,844 (GRCm39) |
N285K |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pan3 |
T |
C |
5: 147,485,093 (GRCm39) |
|
probably benign |
Het |
| Pate10 |
A |
G |
9: 35,653,528 (GRCm39) |
T111A |
possibly damaging |
Het |
| Pate10 |
A |
T |
9: 35,653,406 (GRCm39) |
Y70F |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,779 (GRCm39) |
L53Q |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,535,494 (GRCm39) |
R496L |
possibly damaging |
Het |
| Peg10 |
C |
T |
6: 4,754,499 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,481 (GRCm39) |
K722E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,302 (GRCm39) |
S489P |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,985 (GRCm39) |
V362A |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,426,093 (GRCm39) |
Y168C |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,483,695 (GRCm39) |
H264Y |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,250 (GRCm39) |
T1990K |
probably damaging |
Het |
| Rnf207 |
T |
C |
4: 152,400,112 (GRCm39) |
D192G |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,339 (GRCm39) |
F1784Y |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,956,836 (GRCm39) |
S2T |
probably benign |
Het |
| Slc26a2 |
T |
A |
18: 61,334,757 (GRCm39) |
Y232F |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,511,406 (GRCm39) |
M393L |
probably benign |
Het |
| Stx16 |
A |
G |
2: 173,932,480 (GRCm39) |
T18A |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,216 (GRCm39) |
S585T |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,199,088 (GRCm39) |
E313G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,400,207 (GRCm39) |
K86R |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,781,320 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,637 (GRCm39) |
Y54C |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,398 (GRCm39) |
Q400L |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,245,382 (GRCm39) |
H473N |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,637,897 (GRCm39) |
S31P |
possibly damaging |
Het |
| Tshr |
T |
A |
12: 91,505,009 (GRCm39) |
M649K |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,202,700 (GRCm39) |
V126M |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,177 (GRCm39) |
H3971Q |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,858,698 (GRCm39) |
N622K |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,408,245 (GRCm39) |
Q242L |
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 |
|
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 |
|
|
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'- AAGACCAAACCTGCCTTCTTTC -3'
(R):5'- CGAGCACAGCTGAGCTTTTC -3'
Sequencing Primer
(F):5'- CCTGTACCGGAAGATACACATGG -3'
(R):5'- ACAGCTGAGCTTTTCCGTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation