Incidental Mutation 'R7500:Cracd'
ID |
581414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracd
|
Ensembl Gene |
ENSMUSG00000036377 |
Gene Name |
capping protein inhibiting regulator of actin |
Synonyms |
C530008M17Rik |
MMRRC Submission |
045573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7500 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76805905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 126
(R126G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086909]
[ENSMUST00000128112]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000086909
AA Change: R126G
|
SMART Domains |
Protein: ENSMUSP00000084125 Gene: ENSMUSG00000036377 AA Change: R126G
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128112
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1a |
A |
G |
9: 119,173,564 (GRCm39) |
M146V |
probably benign |
Het |
Adcy1 |
C |
T |
11: 7,094,762 (GRCm39) |
R563C |
probably damaging |
Het |
Ambn |
A |
T |
5: 88,609,493 (GRCm39) |
Y67F |
possibly damaging |
Het |
Ankrd42 |
T |
A |
7: 92,241,080 (GRCm39) |
E426D |
probably benign |
Het |
Ankzf1 |
A |
G |
1: 75,174,623 (GRCm39) |
T538A |
probably benign |
Het |
Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
Arhgef28 |
A |
G |
13: 98,115,003 (GRCm39) |
Y616H |
probably benign |
Het |
B4galt4 |
T |
C |
16: 38,588,376 (GRCm39) |
F340S |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,727,562 (GRCm39) |
E674K |
probably benign |
Het |
Ccr9 |
T |
A |
9: 123,608,534 (GRCm39) |
V72D |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,101,556 (GRCm39) |
K1390I |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,711,585 (GRCm39) |
R513Q |
unknown |
Het |
Cttnbp2 |
G |
T |
6: 18,378,419 (GRCm39) |
N1472K |
probably benign |
Het |
Edn3 |
A |
G |
2: 174,621,328 (GRCm39) |
|
probably null |
Het |
Eps15l1 |
A |
G |
8: 73,136,634 (GRCm39) |
F331L |
probably damaging |
Het |
Gm45337 |
CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC |
CACAGCCTCC |
7: 141,698,021 (GRCm39) |
|
probably benign |
Het |
Lrrc56 |
A |
G |
7: 140,789,443 (GRCm39) |
S487G |
probably benign |
Het |
Moxd2 |
A |
G |
6: 40,868,746 (GRCm39) |
T93A |
probably benign |
Het |
Ngp |
G |
T |
9: 110,248,833 (GRCm39) |
|
probably null |
Het |
Npr2 |
T |
C |
4: 43,650,415 (GRCm39) |
V970A |
probably damaging |
Het |
Or4a79 |
T |
C |
2: 89,552,281 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or5an10 |
T |
C |
19: 12,276,041 (GRCm39) |
S152G |
probably damaging |
Het |
Or8b9 |
T |
C |
9: 37,766,314 (GRCm39) |
S67P |
probably damaging |
Het |
Or8g28 |
T |
G |
9: 39,169,762 (GRCm39) |
I69L |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,078,910 (GRCm39) |
|
probably null |
Het |
Pdf |
A |
T |
8: 107,773,781 (GRCm39) |
F221I |
probably damaging |
Het |
Plekhn1 |
A |
C |
4: 156,317,771 (GRCm39) |
S205R |
probably benign |
Het |
Ppp6r1 |
G |
A |
7: 4,639,129 (GRCm39) |
A606V |
probably benign |
Het |
Prpf38b |
C |
T |
3: 108,812,446 (GRCm39) |
V256I |
probably benign |
Het |
Rbbp5 |
T |
A |
1: 132,421,879 (GRCm39) |
H291Q |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,629,445 (GRCm39) |
E66G |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,381,501 (GRCm39) |
N328Y |
unknown |
Het |
Skint5 |
A |
T |
4: 113,417,035 (GRCm39) |
V1138E |
unknown |
Het |
Slc27a4 |
T |
C |
2: 29,702,717 (GRCm39) |
V539A |
probably damaging |
Het |
Smo |
G |
T |
6: 29,755,534 (GRCm39) |
R402L |
probably benign |
Het |
Srgap2 |
A |
T |
1: 131,364,569 (GRCm39) |
L4Q |
probably damaging |
Het |
Tbxas1 |
A |
T |
6: 38,959,146 (GRCm39) |
R110* |
probably null |
Het |
Thoc7 |
A |
C |
14: 13,951,204 (GRCm38) |
|
probably null |
Het |
Tmub1 |
G |
A |
5: 24,652,507 (GRCm39) |
|
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,772,673 (GRCm39) |
|
probably null |
Het |
Traj19 |
T |
A |
14: 54,437,860 (GRCm39) |
H6Q |
unknown |
Het |
Trim30c |
T |
C |
7: 104,036,758 (GRCm39) |
E200G |
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,798,048 (GRCm39) |
I483N |
probably damaging |
Het |
Usp25 |
G |
T |
16: 76,874,089 (GRCm39) |
R555L |
probably damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,293 (GRCm39) |
S233P |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,910,670 (GRCm39) |
C3478Y |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,162,686 (GRCm39) |
|
probably null |
Het |
Zfp977 |
A |
G |
7: 42,229,629 (GRCm39) |
Y299H |
probably damaging |
Het |
Zmynd11 |
T |
A |
13: 9,785,434 (GRCm39) |
H17L |
probably benign |
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 |
|
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'- GCAGGTGAGCTCTCCTCC -3'
(R):5'- TCGGCAGAGGTTAAACAAAGC -3'
Sequencing Primer
(F):5'- AGCTCTCCTCCGGCGAC -3'
(R):5'- AAAGCCATGCAGCCTGG -3'
|
Posted On |
2019-10-17 |