Incidental Mutation 'R1439:Cracd'
ID |
160838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracd
|
Ensembl Gene |
ENSMUSG00000036377 |
Gene Name |
capping protein inhibiting regulator of actin |
Synonyms |
C530008M17Rik |
MMRRC Submission |
039494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1439 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76988757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000120818]
[ENSMUST00000121160]
[ENSMUST00000121851]
[ENSMUST00000128112]
[ENSMUST00000163347]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120639
AA Change: V36A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113796 Gene: ENSMUSG00000036377 AA Change: V36A
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: ENSMUST00000120818
AA Change: V36A
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121160
AA Change: V36A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113947 Gene: ENSMUSG00000036377 AA Change: V36A
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: ENSMUST00000121851
AA Change: V36A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128112
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163347
AA Change: V36A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127212 Gene: ENSMUSG00000036377 AA Change: V36A
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 |
0.0989 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,770,908 (GRCm39) |
N499S |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,777,587 (GRCm39) |
|
probably benign |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Alkbh1 |
A |
G |
12: 87,475,915 (GRCm39) |
V289A |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,194,305 (GRCm39) |
E1035K |
probably benign |
Het |
C1s2 |
T |
A |
6: 124,607,126 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,492,640 (GRCm39) |
I1885T |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,824,226 (GRCm39) |
|
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,866,831 (GRCm39) |
T248S |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,151,787 (GRCm39) |
K79N |
probably damaging |
Het |
Dennd1a |
A |
C |
2: 37,933,412 (GRCm39) |
L131R |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,764,958 (GRCm39) |
Y3862C |
probably benign |
Het |
Eif3e |
A |
G |
15: 43,141,824 (GRCm39) |
|
probably benign |
Het |
Emsy |
T |
C |
7: 98,250,048 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
T |
5: 110,833,344 (GRCm39) |
D1959E |
unknown |
Het |
Fpr-rs7 |
A |
G |
17: 20,333,869 (GRCm39) |
I207T |
probably benign |
Het |
Fubp3 |
C |
A |
2: 31,488,563 (GRCm39) |
L140I |
probably damaging |
Het |
Gas2l2 |
T |
C |
11: 83,318,298 (GRCm39) |
D137G |
probably damaging |
Het |
Git1 |
G |
T |
11: 77,397,244 (GRCm39) |
R699L |
possibly damaging |
Het |
Gnao1 |
T |
A |
8: 94,690,065 (GRCm39) |
F27L |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Itga6 |
T |
G |
2: 71,664,378 (GRCm39) |
Y505D |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,782,178 (GRCm39) |
T205S |
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,631,375 (GRCm39) |
Y574F |
probably benign |
Het |
Laptm5 |
G |
T |
4: 130,653,520 (GRCm39) |
|
probably benign |
Het |
Mlana |
A |
T |
19: 29,684,252 (GRCm39) |
R71S |
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,998,862 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,703,396 (GRCm39) |
E218G |
possibly damaging |
Het |
Nectin3 |
A |
T |
16: 46,268,757 (GRCm39) |
Y548* |
probably null |
Het |
Nif3l1 |
T |
C |
1: 58,487,102 (GRCm39) |
F96S |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
Obsl1 |
C |
A |
1: 75,463,428 (GRCm39) |
E1755* |
probably null |
Het |
Or4p23 |
T |
C |
2: 88,577,178 (GRCm39) |
E18G |
possibly damaging |
Het |
Osbpl9 |
T |
C |
4: 108,958,353 (GRCm39) |
D74G |
probably damaging |
Het |
Osgin1 |
T |
A |
8: 120,169,852 (GRCm39) |
|
probably null |
Het |
Otogl |
A |
G |
10: 107,615,113 (GRCm39) |
Y1931H |
probably benign |
Het |
Pmepa1 |
A |
G |
2: 173,069,874 (GRCm39) |
I227T |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,175 (GRCm39) |
N564K |
possibly damaging |
Het |
Prkaa1 |
T |
C |
15: 5,194,225 (GRCm39) |
F92S |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,984,437 (GRCm39) |
F811L |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,606,152 (GRCm39) |
K520R |
possibly damaging |
Het |
Rbfox1 |
A |
G |
16: 7,148,297 (GRCm39) |
T269A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,920 (GRCm39) |
Y554C |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,094,720 (GRCm39) |
V208E |
probably damaging |
Het |
Rgs22 |
G |
T |
15: 36,025,939 (GRCm39) |
|
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,797,032 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,729,389 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,523 (GRCm39) |
|
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,833,759 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
C |
A |
11: 74,759,964 (GRCm39) |
R58L |
probably benign |
Het |
Slc25a36 |
A |
C |
9: 96,975,126 (GRCm39) |
|
probably benign |
Het |
Spink4 |
A |
G |
4: 40,929,121 (GRCm39) |
T49A |
possibly damaging |
Het |
Steap3 |
A |
T |
1: 120,155,550 (GRCm39) |
F470I |
probably damaging |
Het |
Stk10 |
A |
G |
11: 32,567,919 (GRCm39) |
Q907R |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,105,057 (GRCm39) |
V446A |
probably damaging |
Het |
Tmem117 |
G |
A |
15: 94,992,478 (GRCm39) |
M379I |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,160 (GRCm39) |
L124P |
possibly damaging |
Het |
Trim9 |
G |
A |
12: 70,297,867 (GRCm39) |
H613Y |
probably damaging |
Het |
Trio |
A |
G |
15: 27,898,000 (GRCm39) |
W371R |
probably damaging |
Het |
Ulk4 |
G |
C |
9: 121,095,324 (GRCm39) |
H110D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,275,776 (GRCm39) |
V387A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,619,793 (GRCm39) |
I284N |
possibly damaging |
Het |
Vmn2r111 |
C |
A |
17: 22,790,097 (GRCm39) |
W303L |
probably benign |
Het |
Vmn2r15 |
G |
T |
5: 109,441,953 (GRCm39) |
P160Q |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,029,118 (GRCm39) |
S323P |
probably benign |
Het |
Zfp846 |
T |
A |
9: 20,505,393 (GRCm39) |
C418S |
possibly damaging |
Het |
Zfyve26 |
G |
T |
12: 79,298,937 (GRCm39) |
P441Q |
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 |
|
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 |
|
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'- TCCTCCAGTTAGAAGCTCAGCACC -3'
(R):5'- GCCTCTTTAACGGGGAACTGAGTG -3'
Sequencing Primer
(F):5'- TAGAAGCTCAGCACCATTGGTTC -3'
(R):5'- TTTAACGGGGAACTGAGTGAAGTC -3'
|
Posted On |
2014-03-14 |