Incidental Mutation 'R0201:Cc2d2a'
| ID |
23626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
038458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R0201 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43894854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1437
(Y1437C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048150
AA Change: Y1498C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: Y1498C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
501 |
N/A |
INTRINSIC |
|
coiled coil region
|
553 |
582 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
645 |
817 |
2e-36 |
PFAM |
|
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
|
C2
|
1048 |
1208 |
3.43e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125866
AA Change: Y1437C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: Y1437C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
504 |
533 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
596 |
768 |
7.7e-44 |
PFAM |
|
low complexity region
|
970 |
982 |
N/A |
INTRINSIC |
|
C2
|
994 |
1154 |
2.3e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.3612 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| Validation Efficiency |
97% (91/94) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
G |
14: 68,819,406 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,927,763 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,521 (GRCm39) |
D182G |
probably damaging |
Het |
| Arnt2 |
G |
T |
7: 84,010,867 (GRCm39) |
S3* |
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,656,211 (GRCm39) |
V1407A |
probably benign |
Het |
| Atg13 |
A |
T |
2: 91,515,107 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,365,579 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,322 (GRCm39) |
V1746G |
possibly damaging |
Het |
| Cbln1 |
G |
T |
8: 88,198,741 (GRCm39) |
T43K |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,108,127 (GRCm39) |
T173A |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 26,008,210 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,000 (GRCm39) |
Y341H |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,856,291 (GRCm39) |
D88V |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 93,993,957 (GRCm39) |
T275S |
probably null |
Het |
| Cimip4 |
T |
A |
15: 78,263,028 (GRCm39) |
M209L |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,478 (GRCm39) |
N458S |
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,889,840 (GRCm39) |
K521R |
probably damaging |
Het |
| Csf2ra |
T |
A |
19: 61,214,006 (GRCm39) |
T305S |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,483,125 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,313 (GRCm39) |
R132* |
probably null |
Het |
| D5Ertd579e |
G |
T |
5: 36,773,809 (GRCm39) |
N195K |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,273,809 (GRCm39) |
V606A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,084,028 (GRCm39) |
D884N |
probably damaging |
Het |
| Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
A |
10: 24,529,815 (GRCm39) |
T608S |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,745 (GRCm39) |
V1546D |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 56,297,522 (GRCm39) |
A158T |
probably benign |
Het |
| Fzd2 |
T |
A |
11: 102,496,948 (GRCm39) |
M464K |
probably damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,416 (GRCm39) |
F22S |
possibly damaging |
Het |
| Gria2 |
T |
C |
3: 80,615,145 (GRCm39) |
Y445C |
probably damaging |
Het |
| Hsdl1 |
T |
A |
8: 120,292,995 (GRCm39) |
I147F |
possibly damaging |
Het |
| Ifi44 |
T |
C |
3: 151,451,273 (GRCm39) |
Y226C |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,371,516 (GRCm39) |
C97R |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,252,843 (GRCm39) |
S369T |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,888 (GRCm39) |
T390A |
unknown |
Het |
| Lgi1 |
A |
G |
19: 38,289,741 (GRCm39) |
E269G |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,860 (GRCm39) |
Y1577* |
probably null |
Het |
| Lrrc74a |
G |
T |
12: 86,808,547 (GRCm39) |
|
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,367,709 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
A |
C |
8: 122,317,289 (GRCm39) |
Q9P |
possibly damaging |
Het |
| Mboat1 |
G |
A |
13: 30,386,358 (GRCm39) |
R124H |
probably benign |
Het |
| Mcu |
A |
G |
10: 59,292,499 (GRCm39) |
L60P |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,202,517 (GRCm39) |
Q75K |
probably benign |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,096,890 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,328 (GRCm39) |
G356D |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,122 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
A |
C |
4: 43,641,617 (GRCm39) |
S474R |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,482,065 (GRCm39) |
F100L |
probably benign |
Het |
| Osbpl6 |
A |
C |
2: 76,376,386 (GRCm39) |
D87A |
possibly damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,360 (GRCm39) |
M542L |
probably benign |
Het |
| Papln |
A |
G |
12: 83,829,801 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
C |
10: 87,928,758 (GRCm39) |
I561V |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,575,634 (GRCm39) |
A4V |
probably benign |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Poldip3 |
T |
A |
15: 83,019,497 (GRCm39) |
M182L |
probably benign |
Het |
| Por |
T |
C |
5: 135,760,032 (GRCm39) |
S240P |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,843 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,691,460 (GRCm39) |
E421G |
probably damaging |
Het |
| Prss22 |
A |
T |
17: 24,215,275 (GRCm39) |
V167D |
probably damaging |
Het |
| Prss37 |
A |
C |
6: 40,493,283 (GRCm39) |
L61R |
probably damaging |
Het |
| Psmd1 |
C |
T |
1: 86,046,338 (GRCm39) |
T702M |
probably benign |
Het |
| Pxdn |
G |
T |
12: 30,052,430 (GRCm39) |
G869V |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,281,315 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,510,767 (GRCm39) |
V228A |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,575,210 (GRCm39) |
R462G |
possibly damaging |
Het |
| Rnft2 |
A |
G |
5: 118,332,745 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,379,670 (GRCm39) |
D1054G |
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,029,717 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,332,331 (GRCm39) |
I222F |
probably benign |
Het |
| Spty2d1 |
G |
A |
7: 46,647,649 (GRCm39) |
R427* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,947,662 (GRCm39) |
T1339A |
probably benign |
Het |
| Sspo |
A |
C |
6: 48,432,686 (GRCm39) |
E854A |
possibly damaging |
Het |
| Stx7 |
A |
G |
10: 24,060,977 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,278,693 (GRCm39) |
|
probably benign |
Het |
| Tmem163 |
T |
G |
1: 127,596,374 (GRCm39) |
|
probably benign |
Het |
| Tmppe |
C |
CT |
9: 114,233,707 (GRCm39) |
|
probably null |
Het |
| Tmx2 |
A |
G |
2: 84,503,426 (GRCm39) |
V229A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,383,174 (GRCm38) |
L54P |
probably damaging |
Het |
| Trim62 |
A |
T |
4: 128,796,343 (GRCm39) |
Y280F |
probably benign |
Het |
| Tssk4 |
A |
T |
14: 55,889,016 (GRCm39) |
K181* |
probably null |
Het |
| Tssk4 |
A |
T |
14: 55,889,017 (GRCm39) |
K181M |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,882,478 (GRCm39) |
D313G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,881,722 (GRCm39) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,845,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,846,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,881,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,841,527 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,846,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,845,579 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,840,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,842,590 (GRCm39) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,892,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,840,547 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,875,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,846,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,871,863 (GRCm39) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,885,636 (GRCm39) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,828,608 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,889,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,892,799 (GRCm39) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,841,541 (GRCm39) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,893,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Cc2d2a
|
UTSW |
5 |
43,845,608 (GRCm39) |
splice site |
probably null |
|
|
R0243:Cc2d2a
|
UTSW |
5 |
43,853,980 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,864,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,860,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,881,729 (GRCm39) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,887,371 (GRCm39) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,838,723 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,879,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,896,713 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,881,030 (GRCm39) |
splice site |
probably null |
|
|
R1715:Cc2d2a
|
UTSW |
5 |
43,876,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,871,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,845,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,898,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,863,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,883,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,841,375 (GRCm39) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,889,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,861,230 (GRCm39) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,828,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,892,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,842,593 (GRCm39) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,893,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,876,056 (GRCm39) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,876,033 (GRCm39) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,840,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,896,665 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,845,563 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,877,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,863,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,887,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,852,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,866,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,887,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,879,804 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,869,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,873,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,869,768 (GRCm39) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,877,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,887,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,826,015 (GRCm39) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,860,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,828,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,873,118 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,861,416 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,896,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,876,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,838,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,860,557 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,875,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,891,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,857,321 (GRCm39) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,840,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,887,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,864,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,896,651 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,852,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,863,442 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,869,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,867,896 (GRCm39) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,857,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,893,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,845,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,842,486 (GRCm39) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,892,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,896,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,860,645 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,857,285 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,867,884 (GRCm39) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,831,081 (GRCm39) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,860,563 (GRCm39) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,891,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,852,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,875,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,860,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,860,546 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACAGTGAGTCCACAACCTTAG -3'
(R):5'- GTGTCATGCAATATGCGACACTTCC -3'
Sequencing Primer
(F):5'- gcagaggacttagcacacac -3'
(R):5'- ATATGCGACACTTCCTTCATTTGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation