Incidental Mutation 'R7017:Cracd'
| ID |
545371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
045118-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7017 (G1)
|
| Quality Score |
199.468 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (12 aa in frame mutation) |
| DNA Base Change (assembly) |
GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG to GAGACAACGCGAGGCCGAGAGGCAGG
at 77004795 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: 99.5%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
A |
G |
17: 37,288,926 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,100,077 (GRCm39) |
|
probably benign |
Het |
| Add3 |
T |
A |
19: 53,222,284 (GRCm39) |
V297E |
possibly damaging |
Het |
| Arfgap1 |
C |
G |
2: 180,618,097 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
T |
C |
15: 80,264,671 (GRCm39) |
F1500L |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,023,596 (GRCm39) |
I945T |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,940,934 (GRCm39) |
N1334K |
possibly damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,368 (GRCm39) |
Y112* |
probably null |
Het |
| Cyp2d40 |
A |
T |
15: 82,644,234 (GRCm39) |
F297Y |
unknown |
Het |
| Ddx4 |
C |
T |
13: 112,738,022 (GRCm39) |
V546I |
probably damaging |
Het |
| Dgkg |
T |
C |
16: 22,391,463 (GRCm39) |
M332V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,835 (GRCm39) |
I867T |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,382,373 (GRCm39) |
K1246* |
probably null |
Het |
| Drd2 |
G |
A |
9: 49,312,129 (GRCm39) |
V161I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,683 (GRCm39) |
D862G |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,553,980 (GRCm39) |
F10S |
probably damaging |
Het |
| Fabp9 |
C |
A |
3: 10,259,756 (GRCm39) |
A76S |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,692 (GRCm39) |
M1528I |
probably benign |
Het |
| Fbxl12 |
A |
G |
9: 20,529,616 (GRCm39) |
S84P |
unknown |
Het |
| Fbxo40 |
T |
C |
16: 36,790,732 (GRCm39) |
D126G |
probably damaging |
Het |
| Fpr1 |
C |
T |
17: 18,097,654 (GRCm39) |
V112I |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,427,023 (GRCm39) |
N2975S |
probably benign |
Het |
| Gask1a |
T |
C |
9: 121,795,052 (GRCm39) |
|
probably null |
Het |
| Gm7945 |
T |
C |
14: 41,105,610 (GRCm39) |
Y156C |
|
Het |
| Gnpat |
T |
C |
8: 125,590,014 (GRCm39) |
V13A |
probably benign |
Het |
| Gpx5 |
G |
A |
13: 21,475,561 (GRCm39) |
P55L |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,993,852 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,533 (GRCm39) |
D109V |
probably damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,392,863 (GRCm39) |
I40N |
possibly damaging |
Het |
| Kcnma1 |
T |
G |
14: 23,544,711 (GRCm39) |
I484L |
possibly damaging |
Het |
| Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,644 (GRCm39) |
S707R |
possibly damaging |
Het |
| Lilra6 |
G |
T |
7: 3,911,707 (GRCm39) |
T317N |
possibly damaging |
Het |
| Lrrc15 |
C |
T |
16: 30,091,780 (GRCm39) |
E520K |
probably benign |
Het |
| Lrrc34 |
C |
T |
3: 30,699,465 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
G |
18: 46,983,745 (GRCm39) |
T163A |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,286 (GRCm39) |
L16* |
probably null |
Het |
| Mpzl2 |
G |
T |
9: 44,958,587 (GRCm39) |
D108Y |
probably benign |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,585 (GRCm39) |
I47F |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Mybphl |
T |
A |
3: 108,282,154 (GRCm39) |
V128E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,030,398 (GRCm39) |
D231E |
probably damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Orm1 |
T |
A |
4: 63,263,448 (GRCm39) |
I87K |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,214,076 (GRCm39) |
P954S |
probably benign |
Het |
| Pdzd8 |
G |
T |
19: 59,333,784 (GRCm39) |
S79* |
probably null |
Het |
| Pdzd9 |
T |
A |
7: 120,262,225 (GRCm39) |
H79L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,600,017 (GRCm39) |
I926F |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,057,741 (GRCm39) |
F4078L |
probably damaging |
Het |
| Plek |
G |
A |
11: 17,002,220 (GRCm39) |
|
probably benign |
Het |
| Pogz |
T |
C |
3: 94,761,335 (GRCm39) |
I25T |
probably damaging |
Het |
| Ppfia3 |
A |
T |
7: 45,008,224 (GRCm39) |
D215E |
probably benign |
Het |
| Psg22 |
C |
A |
7: 18,458,366 (GRCm39) |
S352R |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,626 (GRCm39) |
Y509C |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,257 (GRCm39) |
N389K |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,598,906 (GRCm39) |
D129G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,610 (GRCm39) |
T345A |
probably benign |
Het |
| S100a14 |
T |
C |
3: 90,434,602 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
T |
A |
13: 94,361,423 (GRCm39) |
R152S |
probably damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,861,830 (GRCm39) |
T383A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,552,040 (GRCm39) |
M176V |
probably damaging |
Het |
| St8sia1 |
C |
A |
6: 142,813,632 (GRCm39) |
V177F |
probably damaging |
Het |
| Syt12 |
C |
T |
19: 4,510,895 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,813,934 (GRCm39) |
I1793V |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,513 (GRCm39) |
I137V |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,062,236 (GRCm39) |
Y543F |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,545 (GRCm39) |
S139P |
possibly damaging |
Het |
| Tgfbr1 |
T |
C |
4: 47,410,728 (GRCm39) |
I488T |
probably damaging |
Het |
| Tgm1 |
T |
A |
14: 55,942,398 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,131,722 (GRCm39) |
D698V |
probably damaging |
Het |
| Tpra1 |
T |
A |
6: 88,885,294 (GRCm39) |
I82N |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,120,401 (GRCm39) |
D275E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,623,124 (GRCm39) |
Y787C |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,890,454 (GRCm39) |
S677G |
probably 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 |
|
|
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 |
|
|
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'- TGAAGCCAAGTGCAAACGAC -3'
(R):5'- CAGCTCTTCTATGCGCTTGG -3'
Sequencing Primer
(F):5'- TCAGACAGGAGCTGCTGG -3'
(R):5'- TGCAGCATCCCCTTGGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation