Incidental Mutation 'R6111:Camsap2'
| ID |
484821 |
| 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 |
044260-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R6111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136209036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 819
(S819P)
|
| 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: S825P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: S825P
| 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: S808P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: S808P
| 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: S819P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: S819P
| 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: S151P
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,476,021 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Abcd4 |
G |
A |
12: 84,661,888 (GRCm39) |
T79I |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,424,919 (GRCm39) |
M407T |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,877,360 (GRCm39) |
H460L |
probably damaging |
Het |
| Atad2 |
G |
A |
15: 57,971,487 (GRCm39) |
H752Y |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,722,097 (GRCm39) |
F223L |
probably benign |
Het |
| Col24a1 |
C |
A |
3: 145,019,815 (GRCm39) |
T62K |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,752,091 (GRCm39) |
V283M |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,055,368 (GRCm39) |
S590P |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,989,038 (GRCm39) |
M146K |
unknown |
Het |
| Dclk2 |
A |
G |
3: 86,712,968 (GRCm39) |
Y495H |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,757,766 (GRCm39) |
C330* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,931,692 (GRCm39) |
L37P |
possibly damaging |
Het |
| Dock2 |
G |
A |
11: 34,599,614 (GRCm39) |
P322S |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,208,323 (GRCm39) |
E443G |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,953 (GRCm39) |
D338V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,805,566 (GRCm39) |
I267V |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,823,927 (GRCm39) |
H349L |
probably damaging |
Het |
| Gm25747 |
A |
G |
12: 113,392,703 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,502,430 (GRCm39) |
R368C |
probably damaging |
Het |
| H2-Q5 |
A |
T |
17: 35,613,885 (GRCm39) |
I145F |
possibly damaging |
Het |
| Hace1 |
A |
T |
10: 45,465,606 (GRCm39) |
K54I |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,852,247 (GRCm39) |
I79N |
probably damaging |
Het |
| Ino80b |
A |
G |
6: 83,101,347 (GRCm39) |
V121A |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,661,474 (GRCm39) |
T63A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,050,822 (GRCm39) |
Q762K |
probably benign |
Het |
| Mios |
G |
A |
6: 8,214,836 (GRCm39) |
A11T |
probably benign |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,609 (GRCm39) |
S2091P |
probably benign |
Het |
| Nudt19 |
T |
A |
7: 35,254,952 (GRCm39) |
D93V |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,228 (GRCm39) |
I91T |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,098,329 (GRCm39) |
R369* |
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,242 (GRCm39) |
I403L |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,019,724 (GRCm39) |
D935G |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 113,003,451 (GRCm39) |
H224R |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,732 (GRCm39) |
M932K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,384,412 (GRCm39) |
F122L |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,153 (GRCm39) |
T77A |
unknown |
Het |
| Skint5 |
T |
C |
4: 113,562,845 (GRCm39) |
T786A |
unknown |
Het |
| Smok3c |
C |
A |
5: 138,063,365 (GRCm39) |
P284Q |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,923,963 (GRCm39) |
V786A |
probably damaging |
Het |
| Tmem273 |
T |
C |
14: 32,528,755 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,020,007 (GRCm39) |
C380S |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,710,956 (GRCm39) |
V176A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,736,698 (GRCm39) |
K1141M |
possibly damaging |
Het |
| Ttpa |
A |
T |
4: 20,014,772 (GRCm39) |
I116F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,123 (GRCm39) |
D1655G |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,551 (GRCm39) |
V172A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,117,607 (GRCm39) |
M773T |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,161 (GRCm39) |
H1467Q |
possibly damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,762 (GRCm39) |
S479R |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,509,315 (GRCm39) |
V322A |
probably damaging |
Het |
| Zfp87 |
T |
G |
13: 74,520,504 (GRCm39) |
E191D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,913,217 (GRCm39) |
T14A |
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 |
|
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'- AAGCGCTGCATTTCTTGTTG -3'
(R):5'- ACCTTAGGATGAGGCTGGAG -3'
Sequencing Primer
(F):5'- GTGCAAGGATGAATTCAGCTTTTC -3'
(R):5'- GACGTGCGATAGAAGCCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation