Incidental Mutation 'R1765:Cc2d2a'
| ID |
194276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R1765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43871873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 903
(D903V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048150
AA Change: D952V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: D952V
| 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: D903V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: D903V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127355
|
| Meta Mutation Damage Score |
0.1559 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (90/91) |
| 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 |
|---|
| 4933412E24Rik |
G |
T |
15: 59,887,194 (GRCm39) |
C415* |
probably null |
Het |
| Adamtsl2 |
A |
C |
2: 26,992,842 (GRCm39) |
I652L |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,248,872 (GRCm39) |
I720T |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,261,284 (GRCm39) |
C604* |
probably null |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| B3galt2 |
C |
A |
1: 143,522,207 (GRCm39) |
N114K |
probably benign |
Het |
| Bud23 |
A |
T |
5: 135,084,897 (GRCm39) |
M59K |
probably benign |
Het |
| C3 |
C |
T |
17: 57,531,401 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
A |
C |
4: 35,197,098 (GRCm39) |
H322Q |
probably damaging |
Het |
| Ccdc9b |
G |
A |
2: 118,591,128 (GRCm39) |
A135V |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdan1 |
A |
C |
2: 120,551,230 (GRCm39) |
L1097V |
probably damaging |
Het |
| Cdc26 |
T |
A |
4: 62,313,155 (GRCm39) |
N62I |
probably benign |
Het |
| Cdc27 |
G |
T |
11: 104,425,607 (GRCm39) |
Q70K |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,235,178 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,239,200 (GRCm39) |
S1858G |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,433,261 (GRCm39) |
S247P |
probably damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,339,623 (GRCm39) |
T71I |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,741,793 (GRCm39) |
F1336S |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,074,506 (GRCm39) |
Q104* |
probably null |
Het |
| Dglucy |
T |
A |
12: 100,816,361 (GRCm39) |
|
probably null |
Het |
| Dnajc9 |
A |
G |
14: 20,438,158 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,890,579 (GRCm39) |
D396V |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,583,540 (GRCm39) |
I221F |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,486,579 (GRCm39) |
N1032S |
probably benign |
Het |
| Dsg4 |
A |
C |
18: 20,589,888 (GRCm39) |
Y346S |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,079,759 (GRCm39) |
H417R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,167,884 (GRCm39) |
|
probably null |
Het |
| Elovl1 |
A |
G |
4: 118,287,707 (GRCm39) |
M1V |
probably null |
Het |
| Eva1c |
A |
G |
16: 90,701,135 (GRCm39) |
S257G |
probably benign |
Het |
| Eya2 |
A |
T |
2: 165,566,723 (GRCm39) |
D258V |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,593,841 (GRCm39) |
T113A |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Fstl5 |
G |
T |
3: 76,500,783 (GRCm39) |
R404L |
possibly damaging |
Het |
| Glud1 |
T |
C |
14: 34,047,541 (GRCm39) |
|
probably benign |
Het |
| Gm10770 |
A |
C |
2: 150,021,258 (GRCm39) |
H86Q |
probably damaging |
Het |
| Gzme |
C |
T |
14: 56,355,871 (GRCm39) |
G147D |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,865,645 (GRCm39) |
V746A |
probably damaging |
Het |
| Hmga1 |
A |
G |
17: 27,778,592 (GRCm39) |
E17G |
probably damaging |
Het |
| Kdelr2 |
A |
T |
5: 143,406,567 (GRCm39) |
K206* |
probably null |
Het |
| Kng2 |
A |
G |
16: 22,806,993 (GRCm39) |
|
probably null |
Het |
| Lrrc41 |
G |
A |
4: 115,946,248 (GRCm39) |
R321H |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,986,498 (GRCm39) |
M1K |
probably null |
Het |
| Me2 |
A |
G |
18: 73,924,929 (GRCm39) |
F263L |
probably damaging |
Het |
| Mkks |
A |
G |
2: 136,722,287 (GRCm39) |
L290P |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,354,772 (GRCm39) |
I255N |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,093,784 (GRCm39) |
D251G |
probably benign |
Het |
| Morf4l1 |
T |
A |
9: 89,984,401 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,094,676 (GRCm39) |
D5169G |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,089,665 (GRCm39) |
L1250P |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,715,717 (GRCm39) |
G721V |
possibly damaging |
Het |
| Notch2 |
T |
G |
3: 98,029,242 (GRCm39) |
C1002G |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,481,522 (GRCm39) |
Y1077H |
probably benign |
Het |
| Or1e1c |
T |
A |
11: 73,266,170 (GRCm39) |
N198K |
probably damaging |
Het |
| Or4g17 |
G |
A |
2: 111,209,491 (GRCm39) |
V49I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,367 (GRCm39) |
F305Y |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,118 (GRCm39) |
L285P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,548 (GRCm39) |
I143T |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,215,504 (GRCm39) |
I142F |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,460 (GRCm39) |
E279G |
possibly damaging |
Het |
| Pafah2 |
A |
G |
4: 134,140,758 (GRCm39) |
T243A |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,913 (GRCm39) |
H729R |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,900,874 (GRCm39) |
D756G |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,962 (GRCm39) |
E2707G |
probably damaging |
Het |
| Rit2 |
C |
T |
18: 31,449,951 (GRCm39) |
G16S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,738,922 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,434,858 (GRCm39) |
T1037K |
unknown |
Het |
| Slc28a2 |
T |
A |
2: 122,290,876 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
G |
A |
10: 83,137,130 (GRCm39) |
A259V |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,895 (GRCm39) |
I537F |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,700,084 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,707,196 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,938 (GRCm39) |
I3489V |
probably benign |
Het |
| Sytl3 |
T |
C |
17: 6,967,082 (GRCm39) |
L142P |
probably damaging |
Het |
| Tektl1 |
A |
T |
10: 78,584,502 (GRCm39) |
M340K |
probably benign |
Het |
| Tfr2 |
C |
T |
5: 137,581,707 (GRCm39) |
T598I |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,102,145 (GRCm39) |
Q770R |
probably benign |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,329,597 (GRCm39) |
M177K |
possibly damaging |
Het |
| Trmt11 |
T |
C |
10: 30,435,184 (GRCm39) |
D325G |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,862 (GRCm39) |
T582I |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,919 (GRCm39) |
E682K |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,454 (GRCm39) |
V688A |
possibly damaging |
Het |
| Uts2r |
A |
G |
11: 121,052,095 (GRCm39) |
T320A |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,480 (GRCm39) |
M86K |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,456,880 (GRCm39) |
|
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,368,132 (GRCm39) |
C607S |
probably benign |
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 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,894,854 (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 |
|
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'- GTACTGGCTATGCACCAAAGGTCC -3'
(R):5'- CCCATTCATCGTAACAGTCCGCAG -3'
Sequencing Primer
(F):5'- CGGAGGAAGGCGGAGATTTAG -3'
(R):5'- CAGCATAGTCCCTGGCATAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation