Incidental Mutation 'R1635:Cc2d2a'
ID |
173057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cc2d2a
|
Ensembl Gene |
ENSMUSG00000039765 |
Gene Name |
coiled-coil and C2 domain containing 2A |
Synonyms |
b2b1035Clo, 5730509K17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
R1635 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43879812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1076
(W1076R)
|
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: W1130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048320 Gene: ENSMUSG00000039765 AA Change: W1130R
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: W1076R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114349 Gene: ENSMUSG00000039765 AA Change: W1076R
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.9%
|
Validation Efficiency |
|
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
T |
2: 25,334,868 (GRCm39) |
I1947F |
probably benign |
Het |
Adgrd1 |
G |
T |
5: 129,205,971 (GRCm39) |
V182F |
probably damaging |
Het |
Agmat |
A |
G |
4: 141,474,380 (GRCm39) |
D87G |
probably damaging |
Het |
AI182371 |
T |
C |
2: 34,978,749 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
T |
2: 128,470,452 (GRCm39) |
H1559Q |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,689,297 (GRCm39) |
Y1278C |
probably damaging |
Het |
Arhgef2 |
A |
T |
3: 88,546,628 (GRCm39) |
|
probably null |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Banp |
A |
T |
8: 122,727,750 (GRCm39) |
I130F |
probably damaging |
Het |
C130050O18Rik |
G |
T |
5: 139,400,248 (GRCm39) |
R100S |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,733,739 (GRCm39) |
T374A |
possibly damaging |
Het |
Cdc34 |
T |
G |
10: 79,523,888 (GRCm39) |
S235A |
probably benign |
Het |
Cdh8 |
G |
T |
8: 99,757,656 (GRCm39) |
H647Q |
probably damaging |
Het |
Cdk1 |
A |
T |
10: 69,174,377 (GRCm39) |
L282Q |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,893,902 (GRCm39) |
D471G |
probably damaging |
Het |
Ciao2b |
A |
T |
8: 105,367,620 (GRCm39) |
I108N |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,648,105 (GRCm39) |
I4N |
probably benign |
Het |
Cntfr |
T |
A |
4: 41,658,816 (GRCm39) |
E305V |
probably damaging |
Het |
Cwh43 |
T |
A |
5: 73,591,653 (GRCm39) |
I496N |
probably damaging |
Het |
Cyp2f2 |
A |
G |
7: 26,829,149 (GRCm39) |
N218S |
probably benign |
Het |
D16Ertd472e |
A |
G |
16: 78,343,392 (GRCm39) |
|
probably null |
Het |
Dab2 |
A |
G |
15: 6,459,351 (GRCm39) |
Q400R |
possibly damaging |
Het |
Dapl1 |
A |
T |
2: 59,326,906 (GRCm39) |
I51F |
probably benign |
Het |
Drc7 |
G |
A |
8: 95,800,960 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,811,219 (GRCm39) |
T1101A |
probably damaging |
Het |
Fam83c |
C |
A |
2: 155,671,971 (GRCm39) |
R488M |
possibly damaging |
Het |
Fbxo42 |
A |
G |
4: 140,927,840 (GRCm39) |
T707A |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,803,922 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
G |
C |
15: 58,518,930 (GRCm39) |
K1687N |
probably damaging |
Het |
Fgd4 |
G |
A |
16: 16,292,893 (GRCm39) |
R275* |
probably null |
Het |
Fxr2 |
G |
A |
11: 69,532,139 (GRCm39) |
C87Y |
possibly damaging |
Het |
Gja4 |
A |
T |
4: 127,206,472 (GRCm39) |
I97N |
probably damaging |
Het |
Gm136 |
A |
G |
4: 34,750,919 (GRCm39) |
|
probably null |
Het |
Gm14496 |
A |
G |
2: 181,642,837 (GRCm39) |
D836G |
possibly damaging |
Het |
Grm3 |
T |
A |
5: 9,561,520 (GRCm39) |
T777S |
probably damaging |
Het |
Guca2b |
A |
G |
4: 119,514,912 (GRCm39) |
Y50H |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,786,415 (GRCm39) |
P1587S |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,545,309 (GRCm39) |
S2766N |
probably benign |
Het |
Idi2 |
T |
A |
13: 9,009,455 (GRCm39) |
I224K |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,735,666 (GRCm39) |
|
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,440,078 (GRCm39) |
M693L |
possibly damaging |
Het |
Megf8 |
G |
T |
7: 25,046,172 (GRCm39) |
M1525I |
possibly damaging |
Het |
Mgme1 |
T |
C |
2: 144,121,018 (GRCm39) |
V276A |
possibly damaging |
Het |
Mief2 |
G |
T |
11: 60,622,234 (GRCm39) |
W268L |
probably damaging |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mreg |
T |
C |
1: 72,231,356 (GRCm39) |
N34S |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,330,534 (GRCm39) |
Y11C |
probably damaging |
Het |
Myh9 |
C |
A |
15: 77,655,367 (GRCm39) |
Q1196H |
probably benign |
Het |
Myh9 |
A |
T |
15: 77,660,099 (GRCm39) |
D56E |
probably benign |
Het |
Myo5c |
A |
T |
9: 75,184,357 (GRCm39) |
R949S |
probably benign |
Het |
Ncapg2 |
TAA |
TA |
12: 116,398,305 (GRCm39) |
|
probably null |
Het |
Nfx1 |
T |
A |
4: 40,977,004 (GRCm39) |
V226E |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,737 (GRCm39) |
K581M |
possibly damaging |
Het |
Nmd3 |
T |
G |
3: 69,647,317 (GRCm39) |
I273S |
probably benign |
Het |
Or4c3 |
A |
T |
2: 89,852,314 (GRCm39) |
I32N |
possibly damaging |
Het |
P4hb |
T |
C |
11: 120,462,442 (GRCm39) |
E88G |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pdia4 |
A |
T |
6: 47,776,133 (GRCm39) |
F421L |
possibly damaging |
Het |
Picalm |
T |
A |
7: 89,840,459 (GRCm39) |
S538T |
probably damaging |
Het |
Ppp2r2b |
T |
A |
18: 43,192,275 (GRCm39) |
I11F |
probably benign |
Het |
Prb1c |
A |
G |
6: 132,339,969 (GRCm39) |
|
probably null |
Het |
Ptk7 |
C |
T |
17: 46,884,460 (GRCm39) |
E757K |
possibly damaging |
Het |
Rbm22 |
T |
G |
18: 60,694,340 (GRCm39) |
C24W |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,682,658 (GRCm39) |
D288G |
probably damaging |
Het |
Rgs18 |
T |
A |
1: 144,629,791 (GRCm39) |
H156L |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,333,405 (GRCm39) |
I2871M |
probably damaging |
Het |
Rrm2b |
A |
T |
15: 37,945,328 (GRCm39) |
M137K |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,857,224 (GRCm39) |
D1183E |
probably benign |
Het |
Sacs |
G |
A |
14: 61,441,277 (GRCm39) |
V1108M |
probably damaging |
Het |
Scube2 |
A |
T |
7: 109,442,421 (GRCm39) |
D270E |
possibly damaging |
Het |
Serpina3a |
T |
A |
12: 104,082,737 (GRCm39) |
F170Y |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
Slamf8 |
C |
T |
1: 172,412,186 (GRCm39) |
V130M |
probably damaging |
Het |
Slc5a3 |
T |
C |
16: 91,874,284 (GRCm39) |
S114P |
possibly damaging |
Het |
Sos1 |
T |
A |
17: 80,730,108 (GRCm39) |
|
probably null |
Het |
Sox10 |
A |
T |
15: 79,040,660 (GRCm39) |
D293E |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,596 (GRCm39) |
D177G |
probably damaging |
Het |
Sphkap |
T |
G |
1: 83,256,121 (GRCm39) |
M543L |
probably benign |
Het |
Syt13 |
A |
T |
2: 92,783,760 (GRCm39) |
K343N |
probably damaging |
Het |
Tatdn3 |
A |
G |
1: 190,792,373 (GRCm39) |
M34T |
probably benign |
Het |
Timd4 |
T |
G |
11: 46,732,989 (GRCm39) |
V305G |
possibly damaging |
Het |
Tnnc2 |
T |
C |
2: 164,619,512 (GRCm39) |
I111V |
probably benign |
Het |
Togaram2 |
C |
T |
17: 72,004,846 (GRCm39) |
P301L |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,694,776 (GRCm39) |
N726S |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ugt1a5 |
T |
A |
1: 88,093,805 (GRCm39) |
|
probably benign |
Het |
Ulk3 |
A |
T |
9: 57,500,443 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
A |
8: 29,250,777 (GRCm39) |
I297L |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,908,830 (GRCm39) |
I804V |
probably benign |
Het |
Usp22 |
G |
T |
11: 61,052,144 (GRCm39) |
C278* |
probably null |
Het |
Usp53 |
A |
T |
3: 122,727,872 (GRCm39) |
N903K |
probably benign |
Het |
V1rd19 |
T |
C |
7: 23,702,812 (GRCm39) |
F93L |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,343,493 (GRCm39) |
V624E |
possibly damaging |
Het |
Zfyve16 |
A |
T |
13: 92,645,528 (GRCm39) |
S1073T |
probably damaging |
Het |
Zkscan8 |
T |
C |
13: 21,710,765 (GRCm39) |
H115R |
possibly 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 |
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 |
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'- ACTCCTGAACAGACTTCCTGTTTCATTC -3'
(R):5'- AGGGCATTTTGGGCACTAAACTAGTAAA -3'
Sequencing Primer
(F):5'- TGCCTGAGATAGAAAATGTTCAC -3'
(R):5'- tctttttctcttttctcttctcttcc -3'
|
Posted On |
2014-04-24 |