Incidental Mutation 'R8805:Cracd'
| ID |
671993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
068642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77006489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 950
(V950A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120639
AA Change: V950A
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: V950A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121160
AA Change: V950A
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: V950A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
45 |
172 |
1.8e-41 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163347
AA Change: V950A
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: V950A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,226,737 (GRCm39) |
W467* |
probably null |
Het |
| 4921509C19Rik |
A |
T |
2: 151,313,285 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
G |
A |
5: 137,552,918 (GRCm39) |
M82I |
probably benign |
Het |
| Bmp2 |
T |
A |
2: 133,403,254 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacng7 |
T |
A |
7: 3,415,298 (GRCm39) |
L221H |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,601,712 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,733,576 (GRCm39) |
F125L |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,211,979 (GRCm39) |
A1669T |
unknown |
Het |
| Cfap58 |
A |
T |
19: 47,941,535 (GRCm39) |
E301V |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,532,168 (GRCm39) |
G96C |
probably damaging |
Het |
| Cotl1 |
T |
A |
8: 120,536,944 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,216,110 (GRCm39) |
A812T |
probably damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,773,350 (GRCm39) |
|
probably null |
Het |
| Cry1 |
A |
G |
10: 84,992,969 (GRCm39) |
V83A |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,540,530 (GRCm39) |
R381L |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,327,462 (GRCm39) |
F425L |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,252,930 (GRCm39) |
N158K |
unknown |
Het |
| Dgcr8 |
T |
A |
16: 18,076,161 (GRCm39) |
Q674L |
probably damaging |
Het |
| Dlec1 |
C |
A |
9: 118,941,650 (GRCm39) |
S345R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,273,305 (GRCm39) |
C2478S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,361,963 (GRCm39) |
L131Q |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,862,227 (GRCm39) |
L186M |
|
Het |
| Fn1 |
T |
C |
1: 71,644,239 (GRCm39) |
Q1684R |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,813,453 (GRCm39) |
H3257Q |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,042 (GRCm39) |
V238A |
probably damaging |
Het |
| Gm9611 |
T |
C |
14: 42,116,657 (GRCm39) |
D131G |
|
Het |
| Gpatch8 |
T |
C |
11: 102,371,018 (GRCm39) |
E840G |
unknown |
Het |
| Grm5 |
G |
A |
7: 87,453,176 (GRCm39) |
R271Q |
probably damaging |
Het |
| Has3 |
A |
T |
8: 107,601,135 (GRCm39) |
Y199F |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Il2 |
T |
A |
3: 37,177,282 (GRCm39) |
T85S |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,273 (GRCm39) |
H58R |
possibly damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,379 (GRCm39) |
I154F |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,379 (GRCm39) |
K295R |
possibly damaging |
Het |
| Lipm |
A |
T |
19: 34,090,308 (GRCm39) |
D163V |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,340,215 (GRCm39) |
N70S |
probably damaging |
Het |
| Mgme1 |
A |
G |
2: 144,114,451 (GRCm39) |
|
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,432 (GRCm39) |
E187D |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,533 (GRCm39) |
D149G |
probably benign |
Het |
| Mrrf |
G |
A |
2: 36,037,965 (GRCm39) |
V79I |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,563,270 (GRCm39) |
Q896L |
probably benign |
Het |
| Mtus2 |
A |
C |
5: 148,015,303 (GRCm39) |
M699L |
possibly damaging |
Het |
| Mycbp |
T |
A |
4: 123,803,880 (GRCm39) |
C130S |
unknown |
Het |
| Ntn5 |
A |
T |
7: 45,333,899 (GRCm39) |
Y4F |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,580 (GRCm39) |
V175A |
probably benign |
Het |
| Osm |
A |
G |
11: 4,189,839 (GRCm39) |
S208G |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,578,891 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,390,104 (GRCm39) |
E486G |
probably benign |
Het |
| Pdzk1 |
T |
A |
3: 96,758,910 (GRCm39) |
L105Q |
possibly damaging |
Het |
| Prkd1 |
C |
G |
12: 50,435,155 (GRCm39) |
S524T |
probably benign |
Het |
| Prkd1 |
T |
A |
12: 50,435,156 (GRCm39) |
S524C |
probably damaging |
Het |
| Rab4b |
T |
C |
7: 26,874,148 (GRCm39) |
I90V |
|
Het |
| Rc3h1 |
T |
C |
1: 160,795,222 (GRCm39) |
V1083A |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,524,316 (GRCm39) |
T502I |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,558 (GRCm39) |
Y332C |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,846,789 (GRCm39) |
T265A |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,532,345 (GRCm39) |
M396V |
probably benign |
Het |
| Sord |
G |
A |
2: 122,094,607 (GRCm39) |
V332I |
probably benign |
Het |
| Sprr1b |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
3: 92,344,653 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,577 (GRCm39) |
R53H |
probably benign |
Het |
| Stard4 |
T |
G |
18: 33,336,749 (GRCm39) |
I189L |
possibly damaging |
Het |
| Stk38 |
G |
T |
17: 29,219,094 (GRCm39) |
T7K |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,859 (GRCm39) |
K227* |
probably null |
Het |
| Taf4b |
C |
T |
18: 14,946,485 (GRCm39) |
P436L |
possibly damaging |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Tmem158 |
A |
G |
9: 123,089,309 (GRCm39) |
F101S |
probably damaging |
Het |
| Trmt10b |
T |
C |
4: 45,301,281 (GRCm39) |
S77P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,720,307 (GRCm39) |
L6973* |
probably null |
Het |
| Tubal3 |
T |
C |
13: 3,983,293 (GRCm39) |
F358L |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,575 (GRCm39) |
V1381A |
possibly damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,273 (GRCm39) |
L256F |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Yipf1 |
A |
T |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zdhhc2 |
G |
T |
8: 40,898,846 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
C |
T |
5: 145,181,290 (GRCm39) |
H383Y |
probably damaging |
Het |
| Zfp981 |
C |
T |
4: 146,622,410 (GRCm39) |
T445I |
possibly damaging |
Het |
|
| Other mutations in Cracd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Cracd
|
APN |
5 |
77,013,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00660:Cracd
|
APN |
5 |
77,002,780 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00924:Cracd
|
APN |
5 |
77,006,833 (GRCm39) |
missense |
unknown |
|
|
IGL01025:Cracd
|
APN |
5 |
76,805,921 (GRCm39) |
intron |
probably benign |
|
|
IGL01122:Cracd
|
APN |
5 |
77,018,522 (GRCm39) |
makesense |
probably null |
|
|
IGL01393:Cracd
|
APN |
5 |
77,006,818 (GRCm39) |
missense |
unknown |
|
|
IGL01526:Cracd
|
APN |
5 |
77,005,478 (GRCm39) |
missense |
unknown |
|
|
IGL01986:Cracd
|
APN |
5 |
77,006,457 (GRCm39) |
missense |
unknown |
|
|
IGL02009:Cracd
|
APN |
5 |
76,996,817 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02724:Cracd
|
APN |
5 |
77,006,306 (GRCm39) |
missense |
unknown |
|
|
IGL02869:Cracd
|
APN |
5 |
77,006,890 (GRCm39) |
missense |
unknown |
|
|
IGL03030:Cracd
|
APN |
5 |
77,005,463 (GRCm39) |
missense |
unknown |
|
|
IGL03150:Cracd
|
APN |
5 |
77,015,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
LCD18:Cracd
|
UTSW |
5 |
76,806,589 (GRCm39) |
intron |
probably benign |
|
|
R0975:Cracd
|
UTSW |
5 |
77,004,165 (GRCm39) |
splice site |
probably benign |
|
|
R1329:Cracd
|
UTSW |
5 |
76,805,779 (GRCm39) |
intron |
probably benign |
|
|
R1439:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1750:Cracd
|
UTSW |
5 |
77,005,522 (GRCm39) |
missense |
unknown |
|
|
R1773:Cracd
|
UTSW |
5 |
77,015,052 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1885:Cracd
|
UTSW |
5 |
77,004,589 (GRCm39) |
missense |
unknown |
|
|
R1924:Cracd
|
UTSW |
5 |
77,006,470 (GRCm39) |
missense |
unknown |
|
|
R2483:Cracd
|
UTSW |
5 |
77,004,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3840:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3841:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3874:Cracd
|
UTSW |
5 |
76,988,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Cracd
|
UTSW |
5 |
77,004,421 (GRCm39) |
missense |
unknown |
|
|
R4033:Cracd
|
UTSW |
5 |
77,006,312 (GRCm39) |
missense |
unknown |
|
|
R4401:Cracd
|
UTSW |
5 |
76,996,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4749:Cracd
|
UTSW |
5 |
77,006,681 (GRCm39) |
missense |
unknown |
|
|
R4884:Cracd
|
UTSW |
5 |
76,996,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Cracd
|
UTSW |
5 |
77,005,421 (GRCm39) |
missense |
unknown |
|
|
R5010:Cracd
|
UTSW |
5 |
76,805,681 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5086:Cracd
|
UTSW |
5 |
77,004,971 (GRCm39) |
missense |
unknown |
|
|
R5468:Cracd
|
UTSW |
5 |
76,988,610 (GRCm39) |
intron |
probably benign |
|
|
R5786:Cracd
|
UTSW |
5 |
77,014,043 (GRCm39) |
splice site |
probably null |
|
|
R5813:Cracd
|
UTSW |
5 |
77,006,275 (GRCm39) |
missense |
unknown |
|
|
R5866:Cracd
|
UTSW |
5 |
77,005,384 (GRCm39) |
missense |
unknown |
|
|
R5928:Cracd
|
UTSW |
5 |
76,989,581 (GRCm39) |
intron |
probably benign |
|
|
R6273:Cracd
|
UTSW |
5 |
77,005,568 (GRCm39) |
missense |
unknown |
|
|
R6577:Cracd
|
UTSW |
5 |
77,013,947 (GRCm39) |
unclassified |
probably benign |
|
|
R6838:Cracd
|
UTSW |
5 |
77,006,056 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,005,004 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,004,857 (GRCm39) |
missense |
unknown |
|
|
R6914:Cracd
|
UTSW |
5 |
77,004,854 (GRCm39) |
missense |
unknown |
|
|
R7017:Cracd
|
UTSW |
5 |
77,004,795 (GRCm39) |
small deletion |
probably benign |
|
|
R7094:Cracd
|
UTSW |
5 |
77,006,879 (GRCm39) |
missense |
unknown |
|
|
R7367:Cracd
|
UTSW |
5 |
77,004,449 (GRCm39) |
missense |
unknown |
|
|
R7394:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7436:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7443:Cracd
|
UTSW |
5 |
77,004,485 (GRCm39) |
missense |
unknown |
|
|
R7500:Cracd
|
UTSW |
5 |
76,805,905 (GRCm39) |
missense |
unknown |
|
|
R7566:Cracd
|
UTSW |
5 |
77,014,122 (GRCm39) |
splice site |
probably null |
|
|
R7633:Cracd
|
UTSW |
5 |
77,005,367 (GRCm39) |
missense |
unknown |
|
|
R7728:Cracd
|
UTSW |
5 |
77,005,316 (GRCm39) |
missense |
unknown |
|
|
R7930:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7985:Cracd
|
UTSW |
5 |
76,805,897 (GRCm39) |
missense |
unknown |
|
|
R8154:Cracd
|
UTSW |
5 |
76,989,644 (GRCm39) |
missense |
unknown |
|
|
R8463:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8547:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8819:Cracd
|
UTSW |
5 |
77,004,793 (GRCm39) |
small deletion |
probably benign |
|
|
R8888:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9256:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
unknown |
|
|
R9358:Cracd
|
UTSW |
5 |
77,002,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9618:Cracd
|
UTSW |
5 |
77,004,617 (GRCm39) |
missense |
unknown |
|
|
R9628:Cracd
|
UTSW |
5 |
77,004,923 (GRCm39) |
missense |
unknown |
|
|
R9639:Cracd
|
UTSW |
5 |
77,005,997 (GRCm39) |
missense |
unknown |
|
|
R9762:Cracd
|
UTSW |
5 |
77,006,555 (GRCm39) |
missense |
unknown |
|
|
R9785:Cracd
|
UTSW |
5 |
77,015,028 (GRCm39) |
missense |
unknown |
|
|
Z1176:Cracd
|
UTSW |
5 |
77,005,093 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACTTTGGACAGCGAGAC -3'
(R):5'- GATGGCATTTTGCTTACTGCCC -3'
Sequencing Primer
(F):5'- TTTGGACAGCGAGACCACGAG -3'
(R):5'- GCCCTGTCTTGCTCTGGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation