Incidental Mutation 'R7443:Cracd'
ID |
577082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracd
|
Ensembl Gene |
ENSMUSG00000036377 |
Gene Name |
capping protein inhibiting regulator of actin |
Synonyms |
C530008M17Rik |
MMRRC Submission |
045519-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7443 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77004485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
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: V282A
|
SMART Domains |
Protein: ENSMUSP00000113796 Gene: ENSMUSG00000036377 AA Change: V282A
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: V282A
|
SMART Domains |
Protein: ENSMUSP00000113947 Gene: ENSMUSG00000036377 AA Change: V282A
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: V282A
|
SMART Domains |
Protein: ENSMUSP00000127212 Gene: ENSMUSG00000036377 AA Change: V282A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
C |
1: 156,452,951 (GRCm39) |
I162T |
probably damaging |
Het |
Acaca |
G |
A |
11: 84,206,619 (GRCm39) |
S1493N |
probably benign |
Het |
Arf2 |
T |
A |
11: 103,859,976 (GRCm39) |
M18K |
probably benign |
Het |
Bag5 |
A |
G |
12: 111,677,161 (GRCm39) |
S221P |
probably damaging |
Het |
Bcr |
T |
C |
10: 74,978,968 (GRCm39) |
|
probably null |
Het |
Btg2 |
T |
A |
1: 134,005,433 (GRCm39) |
K51* |
probably null |
Het |
Chrne |
A |
G |
11: 70,509,092 (GRCm39) |
V130A |
probably benign |
Het |
Cubn |
T |
A |
2: 13,460,320 (GRCm39) |
D714V |
probably damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,105,756 (GRCm39) |
I153F |
probably damaging |
Het |
Dph7 |
C |
A |
2: 24,852,505 (GRCm39) |
H5Q |
probably benign |
Het |
Epha6 |
T |
C |
16: 59,595,988 (GRCm39) |
N901S |
possibly damaging |
Het |
Exosc9 |
C |
A |
3: 36,607,990 (GRCm39) |
P66Q |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,355,038 (GRCm39) |
D42G |
possibly damaging |
Het |
Gbp11 |
A |
G |
5: 105,478,816 (GRCm39) |
|
probably null |
Het |
Gm3264 |
A |
T |
14: 16,058,304 (GRCm39) |
Y37F |
probably damaging |
Het |
H2-M10.2 |
T |
A |
17: 36,596,945 (GRCm39) |
I44F |
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,145 (GRCm39) |
F364I |
probably damaging |
Het |
Hnf4a |
A |
G |
2: 163,400,932 (GRCm39) |
I184V |
probably benign |
Het |
Ighe |
G |
T |
12: 113,235,785 (GRCm39) |
C180* |
probably null |
Het |
Iigp1c |
A |
T |
18: 60,379,122 (GRCm39) |
N219I |
probably benign |
Het |
Klk1b22 |
T |
A |
7: 43,765,534 (GRCm39) |
I162K |
probably benign |
Het |
Lmo3 |
C |
T |
6: 138,354,220 (GRCm39) |
A104T |
probably damaging |
Het |
Lsm14a |
A |
G |
7: 34,053,263 (GRCm39) |
V263A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,671,432 (GRCm39) |
Y1538H |
probably damaging |
Het |
Ly6g6g |
T |
C |
15: 74,647,249 (GRCm39) |
E32G |
|
Het |
Map9 |
A |
G |
3: 82,278,663 (GRCm39) |
E221G |
possibly damaging |
Het |
Mccc2 |
G |
A |
13: 100,130,144 (GRCm39) |
A71V |
possibly damaging |
Het |
Mdc1 |
T |
A |
17: 36,161,712 (GRCm39) |
V875E |
probably damaging |
Het |
Mier2 |
A |
T |
10: 79,376,289 (GRCm39) |
I212N |
unknown |
Het |
Mitd1 |
T |
C |
1: 37,920,117 (GRCm39) |
T164A |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,111,331 (GRCm39) |
I1590T |
probably benign |
Het |
Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,829,652 (GRCm39) |
V118E |
probably benign |
Het |
Nynrin |
G |
A |
14: 56,108,873 (GRCm39) |
V1327I |
probably benign |
Het |
Oas1c |
C |
A |
5: 120,943,484 (GRCm39) |
K218N |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,507 (GRCm39) |
D177G |
probably damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,961 (GRCm39) |
N286S |
probably damaging |
Het |
Or1e23 |
A |
T |
11: 73,407,674 (GRCm39) |
V117D |
possibly damaging |
Het |
Or4a80 |
T |
A |
2: 89,582,285 (GRCm39) |
M296L |
probably benign |
Het |
Or5g26 |
T |
A |
2: 85,493,912 (GRCm39) |
I289F |
probably damaging |
Het |
Or5h17 |
T |
A |
16: 58,820,353 (GRCm39) |
F102I |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,731,633 (GRCm39) |
M618L |
probably benign |
Het |
P3r3urf |
G |
A |
4: 116,030,664 (GRCm39) |
G23R |
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,231,028 (GRCm39) |
T37S |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,107,499 (GRCm39) |
L1010P |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,943,675 (GRCm39) |
F1921L |
probably damaging |
Het |
Prss47 |
T |
A |
13: 65,197,303 (GRCm39) |
K144N |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,988,531 (GRCm39) |
K953E |
probably damaging |
Het |
Rasip1 |
T |
A |
7: 45,288,148 (GRCm39) |
I909N |
probably damaging |
Het |
Rps5 |
A |
G |
7: 12,656,922 (GRCm39) |
T8A |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,132,621 (GRCm39) |
K213E |
possibly damaging |
Het |
Serpinb5 |
T |
C |
1: 106,809,700 (GRCm39) |
F369L |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,241,297 (GRCm39) |
V306A |
probably benign |
Het |
Sox13 |
T |
C |
1: 133,312,369 (GRCm39) |
Y465C |
probably damaging |
Het |
Sox13 |
C |
A |
1: 133,312,311 (GRCm39) |
K484N |
probably damaging |
Het |
Stx3 |
A |
G |
19: 11,769,208 (GRCm39) |
I39T |
possibly damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,273,763 (GRCm39) |
Y116C |
probably damaging |
Het |
Tcp11l1 |
T |
A |
2: 104,514,480 (GRCm39) |
Q429L |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,401,442 (GRCm39) |
T952I |
probably benign |
Het |
Trib3 |
T |
C |
2: 152,181,692 (GRCm39) |
H176R |
possibly damaging |
Het |
Trim12a |
A |
G |
7: 103,950,049 (GRCm39) |
Y297H |
probably damaging |
Het |
Unc13a |
A |
G |
8: 72,083,603 (GRCm39) |
V1577A |
probably damaging |
Het |
Vezf1 |
C |
A |
11: 87,965,489 (GRCm39) |
P244T |
probably damaging |
Het |
Vmn1r121 |
T |
A |
7: 20,831,945 (GRCm39) |
D165V |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,679,107 (GRCm39) |
I706F |
probably benign |
Het |
Vmn2r117 |
C |
T |
17: 23,679,319 (GRCm39) |
C635Y |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,308,588 (GRCm39) |
M550K |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,451,489 (GRCm39) |
L798P |
probably damaging |
Het |
Wtap |
C |
T |
17: 13,199,821 (GRCm39) |
G54D |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,917,047 (GRCm39) |
S541G |
|
Het |
Zkscan3 |
A |
T |
13: 21,572,608 (GRCm39) |
Y341* |
probably null |
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 |
|
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 |
|
R8805:Cracd
|
UTSW |
5 |
77,006,489 (GRCm39) |
missense |
unknown |
|
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'- AGGACCGACAGAATGAACCG -3'
(R):5'- CGGCCTCGCATTGTCTCG -3'
Sequencing Primer
(F):5'- GCAGCTTTGAGAGTCAGTCCTC -3'
(R):5'- CGCGCTGCCTCAGTTTC -3'
|
Posted On |
2019-10-07 |