Incidental Mutation 'R6943:Camsap2'
| ID |
540630 |
| 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 |
045057-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R6943 (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 136232187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 136
(H136R)
|
| 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: H136R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: H136R
| 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: H136R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: H136R
| 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: H136R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: H136R
| 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: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,583,362 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
A |
G |
7: 24,623,156 (GRCm39) |
I423V |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,280 (GRCm39) |
L2389P |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,860 (GRCm39) |
M222V |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,985,016 (GRCm39) |
G3013C |
unknown |
Het |
| Ccar1 |
A |
G |
10: 62,582,715 (GRCm39) |
V1047A |
unknown |
Het |
| Ccdc80 |
A |
G |
16: 44,915,445 (GRCm39) |
E67G |
probably benign |
Het |
| Ces3b |
G |
T |
8: 105,819,710 (GRCm39) |
G511V |
probably damaging |
Het |
| Cops6 |
T |
A |
5: 138,161,790 (GRCm39) |
H224Q |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,235,866 (GRCm39) |
D331V |
probably damaging |
Het |
| Dusp29 |
T |
C |
14: 21,727,135 (GRCm39) |
D171G |
probably damaging |
Het |
| Echs1 |
G |
A |
7: 139,688,007 (GRCm39) |
T266I |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,406 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Epb41l5 |
C |
T |
1: 119,536,859 (GRCm39) |
R344Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,477 (GRCm39) |
V913I |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,240 (GRCm39) |
F320S |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,387,579 (GRCm39) |
R133K |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
| Gphn |
C |
G |
12: 78,538,955 (GRCm39) |
S200R |
possibly damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,658,560 (GRCm39) |
M66R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,058 (GRCm39) |
C219S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,942,261 (GRCm39) |
M90K |
possibly damaging |
Het |
| Itga8 |
C |
A |
2: 12,160,182 (GRCm39) |
|
probably null |
Het |
| Klrk1 |
T |
A |
6: 129,598,203 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kmo |
T |
A |
1: 175,485,941 (GRCm39) |
F385I |
probably benign |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc3c |
A |
G |
11: 98,490,075 (GRCm39) |
D144G |
probably damaging |
Het |
| Lyzl4 |
C |
T |
9: 121,412,047 (GRCm39) |
W123* |
probably null |
Het |
| Map3k1 |
A |
G |
13: 111,909,246 (GRCm39) |
S77P |
probably benign |
Het |
| Mark1 |
T |
C |
1: 184,630,984 (GRCm39) |
T709A |
probably damaging |
Het |
| Nbr1 |
A |
T |
11: 101,468,777 (GRCm39) |
I878F |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,547,168 (GRCm39) |
H118Q |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,678,770 (GRCm39) |
G873S |
probably damaging |
Het |
| Ngly1 |
T |
G |
14: 16,283,467 (GRCm38) |
N415K |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,118,962 (GRCm39) |
R677L |
probably damaging |
Het |
| Nop9 |
T |
C |
14: 55,990,270 (GRCm39) |
V471A |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,802,577 (GRCm39) |
N1333D |
probably benign |
Het |
| Nsun2 |
G |
A |
13: 69,778,152 (GRCm39) |
G478R |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,407 (GRCm39) |
Y257* |
probably null |
Het |
| Or1ad8 |
T |
A |
11: 50,898,153 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5m9b |
T |
C |
2: 85,905,264 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8g34 |
A |
T |
9: 39,373,159 (GRCm39) |
Y144F |
probably benign |
Het |
| Pcp4l1 |
T |
C |
1: 171,002,022 (GRCm39) |
E46G |
possibly damaging |
Het |
| Plek2 |
T |
C |
12: 78,936,083 (GRCm39) |
|
probably null |
Het |
| Rbl1 |
T |
G |
2: 157,030,206 (GRCm39) |
I434L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,581,834 (GRCm39) |
V4777A |
possibly damaging |
Het |
| Sgk1 |
T |
C |
10: 21,758,593 (GRCm39) |
F19S |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,532,677 (GRCm39) |
A2978V |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,940 (GRCm39) |
T7711A |
probably benign |
Het |
| Taf10 |
G |
A |
7: 105,393,383 (GRCm39) |
T48I |
probably benign |
Het |
| Tgfbi |
T |
G |
13: 56,784,989 (GRCm39) |
S649A |
possibly damaging |
Het |
| Thbs3 |
T |
C |
3: 89,132,171 (GRCm39) |
V749A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,180,641 (GRCm39) |
H218N |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,284,851 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,900,982 (GRCm39) |
I1586M |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,164,442 (GRCm39) |
C2676* |
probably null |
Het |
| Unc13a |
A |
T |
8: 72,105,021 (GRCm39) |
I747N |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,563 (GRCm39) |
T103I |
possibly damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,474 (GRCm39) |
V35A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,448,835 (GRCm39) |
H603R |
possibly damaging |
Het |
| Zfp105 |
A |
G |
9: 122,754,303 (GRCm39) |
D44G |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,152 (GRCm39) |
H103R |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,795 (GRCm39) |
F947L |
possibly 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 |
|
|
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'- GCCAGACAGGAACAATGTGC -3'
(R):5'- ATCAAATGAGTCTGGTCCTGTTG -3'
Sequencing Primer
(F):5'- CAATGTGCAACCAAGGATTTCAG -3'
(R):5'- CCTGTTGGTTTTCTTAGCATGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation