Incidental Mutation 'R8463:Cracd'
| ID |
656647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
067907-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8463 (G1)
|
| Quality Score |
174.468 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (12 aa in frame mutation) |
| DNA Base Change (assembly) |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG to GCGCGAGGCCGAGAGGCAGG
at 77004801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120639
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
| 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 |
probably benign
Transcript: ENSMUST00000121160
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
| 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 |
probably benign
Transcript: ENSMUST00000163347
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
| 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: 99.4%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,192,909 (GRCm39) |
I146F |
probably damaging |
Het |
| Adcy8 |
G |
T |
15: 64,792,874 (GRCm39) |
D27E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,113 (GRCm39) |
I2466V |
probably benign |
Het |
| BC005624 |
T |
A |
2: 30,871,817 (GRCm39) |
E19V |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,211,608 (GRCm39) |
F279I |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,659,353 (GRCm39) |
L335M |
probably benign |
Het |
| Cdkn1c |
G |
A |
7: 143,014,324 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,415 (GRCm39) |
P1186L |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,353,236 (GRCm39) |
L75S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,749,580 (GRCm39) |
E338D |
possibly damaging |
Het |
| Dlg2 |
G |
T |
7: 91,617,441 (GRCm39) |
M289I |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,519,875 (GRCm39) |
D134V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,683,801 (GRCm39) |
Y106C |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,420,081 (GRCm39) |
K599E |
possibly damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,084,375 (GRCm39) |
I154F |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,842,053 (GRCm39) |
E141D |
probably benign |
Het |
| Gmds |
T |
C |
13: 32,003,906 (GRCm39) |
N371S |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,554 (GRCm39) |
A136T |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,893,672 (GRCm39) |
|
probably null |
Het |
| Hnmt |
T |
C |
2: 23,938,836 (GRCm39) |
M1V |
probably null |
Het |
| Hydin |
T |
C |
8: 111,237,553 (GRCm39) |
V1942A |
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,332,506 (GRCm39) |
A236S |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,896 (GRCm39) |
H654L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,322,250 (GRCm39) |
T1893M |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,922 (GRCm39) |
Y99* |
probably null |
Het |
| Mdga1 |
T |
C |
17: 30,068,703 (GRCm39) |
D208G |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,348 (GRCm39) |
E218G |
probably damaging |
Het |
| Mif4gd |
T |
A |
11: 115,499,324 (GRCm39) |
D186V |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,283 (GRCm39) |
Y191C |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,271 (GRCm39) |
V482L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,435 (GRCm39) |
T695S |
unknown |
Het |
| Muc4 |
A |
T |
16: 32,574,201 (GRCm39) |
M760L |
probably benign |
Het |
| Mybl2 |
A |
T |
2: 162,916,638 (GRCm39) |
S430C |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,276,896 (GRCm39) |
N211D |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,851,011 (GRCm39) |
T294A |
probably damaging |
Het |
| Or51k2 |
G |
A |
7: 103,595,834 (GRCm39) |
|
probably null |
Het |
| Or5w16 |
A |
T |
2: 87,577,437 (GRCm39) |
E299V |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,922,526 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
G |
18: 37,576,287 (GRCm39) |
S222A |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
A |
T |
10: 79,703,397 (GRCm39) |
V29E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,354 (GRCm39) |
P96L |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,599 (GRCm39) |
*222R |
probably null |
Het |
| Prss2 |
T |
A |
6: 41,498,739 (GRCm39) |
M1K |
probably null |
Het |
| Prss3 |
C |
A |
6: 41,352,059 (GRCm39) |
R68L |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,787,619 (GRCm39) |
Q512* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,801 (GRCm39) |
I65T |
probably benign |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,082 (GRCm39) |
A78T |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,897,583 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 44,003,605 (GRCm39) |
R1766G |
possibly damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,694,615 (GRCm39) |
L54P |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,820,886 (GRCm39) |
K386E |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,248 (GRCm39) |
S393P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,249,590 (GRCm39) |
V66A |
unknown |
Het |
| Tpm1 |
G |
T |
9: 66,955,512 (GRCm39) |
A45E |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,069,039 (GRCm39) |
Y294H |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,299,430 (GRCm39) |
V130A |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,369,340 (GRCm39) |
V78L |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,168 (GRCm39) |
V654A |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,914 (GRCm39) |
M1I |
probably null |
Het |
| Xpnpep3 |
A |
G |
15: 81,332,672 (GRCm39) |
K403R |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,810 (GRCm39) |
T154A |
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 |
|
|
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'- TTGAAGCCAAGTGCAAACGAC -3'
(R):5'- AGCTCTTCTATGCGCTTGGC -3'
Sequencing Primer
(F):5'- TCAGACAGGAGCTGCTGG -3'
(R):5'- TGCAGCATCCCCTTGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation