Incidental Mutation 'R0624:Cc2d2a'
| ID |
58795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
038813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R0624 (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 43887371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1267
(H1267L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
AA Change: H1328L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: H1328L
| 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 benign
Transcript: ENSMUST00000125866
AA Change: H1267L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: H1267L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (88/90) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,030,446 (GRCm39) |
D767V |
probably damaging |
Het |
| Add1 |
T |
A |
5: 34,763,197 (GRCm39) |
N128K |
probably damaging |
Het |
| Ado |
A |
T |
10: 67,384,058 (GRCm39) |
D182E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,002,761 (GRCm39) |
|
probably benign |
Het |
| Ano10 |
A |
G |
9: 122,088,661 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,364,263 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
G |
10: 80,150,417 (GRCm39) |
T1795A |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,418,424 (GRCm39) |
N571D |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,887,344 (GRCm39) |
N891D |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,159,283 (GRCm39) |
E494K |
probably damaging |
Het |
| Car3 |
G |
T |
3: 14,931,864 (GRCm39) |
M78I |
probably benign |
Het |
| Cdk18 |
A |
G |
1: 132,046,610 (GRCm39) |
L192P |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,599,836 (GRCm39) |
Y134N |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,448,888 (GRCm39) |
T85S |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,347 (GRCm39) |
T1403A |
probably benign |
Het |
| Chd8 |
C |
T |
14: 52,457,214 (GRCm39) |
G918D |
possibly damaging |
Het |
| Csnk1e |
T |
A |
15: 79,304,098 (GRCm39) |
|
probably benign |
Het |
| Dctpp1 |
A |
T |
7: 126,856,365 (GRCm39) |
I119N |
probably damaging |
Het |
| Defb34 |
T |
A |
8: 19,173,784 (GRCm39) |
F6Y |
unknown |
Het |
| Dnai4 |
T |
C |
4: 102,930,054 (GRCm39) |
|
probably benign |
Het |
| Dvl1 |
C |
G |
4: 155,939,232 (GRCm39) |
N248K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,181 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,211,910 (GRCm39) |
D199G |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,831,738 (GRCm39) |
R407W |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,551,688 (GRCm39) |
D99G |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,504,205 (GRCm39) |
N4566I |
possibly damaging |
Het |
| Gm21834 |
T |
C |
17: 58,049,015 (GRCm39) |
E67G |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,949 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,715,923 (GRCm39) |
I108T |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,720 (GRCm39) |
D242G |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,114 (GRCm39) |
D467G |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,375,849 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
A |
T |
7: 140,786,366 (GRCm39) |
D248V |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,133,117 (GRCm39) |
E27V |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 58,945,123 (GRCm39) |
W116* |
probably null |
Het |
| Mgll |
A |
G |
6: 88,702,799 (GRCm39) |
R33G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,280,221 (GRCm39) |
S384G |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,607,444 (GRCm39) |
C675Y |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,396,117 (GRCm39) |
L13P |
unknown |
Het |
| Ocstamp |
A |
G |
2: 165,239,772 (GRCm39) |
V138A |
probably damaging |
Het |
| Or12e8 |
T |
G |
2: 87,188,026 (GRCm39) |
Y79* |
probably null |
Het |
| Or2z8 |
T |
A |
8: 72,812,006 (GRCm39) |
S161T |
possibly damaging |
Het |
| Or4a68 |
A |
G |
2: 89,270,482 (GRCm39) |
V47A |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,645,056 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,323 (GRCm39) |
S206P |
possibly damaging |
Het |
| Or9i1b |
T |
G |
19: 13,896,808 (GRCm39) |
C141W |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,569,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,780 (GRCm39) |
I83V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,670 (GRCm39) |
E1269G |
unknown |
Het |
| Plagl2 |
T |
C |
2: 153,077,973 (GRCm39) |
T3A |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,136,831 (GRCm39) |
P309S |
possibly damaging |
Het |
| Pld3 |
A |
T |
7: 27,239,000 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,974 (GRCm39) |
|
probably benign |
Het |
| Psap |
T |
G |
10: 60,135,345 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
| Reep2 |
A |
T |
18: 34,973,824 (GRCm39) |
I6F |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,454 (GRCm39) |
E100G |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,931,889 (GRCm39) |
D37G |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,153 (GRCm39) |
I895M |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,774,034 (GRCm39) |
A2445V |
probably damaging |
Het |
| Sbf1 |
C |
T |
15: 89,186,532 (GRCm39) |
D898N |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Shf |
C |
A |
2: 122,199,116 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,086,676 (GRCm39) |
E638G |
probably damaging |
Het |
| Slc13a3 |
G |
T |
2: 165,253,807 (GRCm39) |
P449T |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,215 (GRCm39) |
V374I |
possibly damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,794,059 (GRCm38) |
|
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,361,568 (GRCm39) |
S414T |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,393,719 (GRCm39) |
E554G |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,433,064 (GRCm39) |
I332T |
probably damaging |
Het |
| Snrnp40 |
C |
T |
4: 130,256,451 (GRCm39) |
P59S |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,222,777 (GRCm39) |
I154N |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,255,946 (GRCm39) |
G631S |
probably damaging |
Het |
| Sox10 |
T |
C |
15: 79,043,586 (GRCm39) |
D149G |
possibly damaging |
Het |
| Spn |
C |
T |
7: 126,735,380 (GRCm39) |
V376M |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,179,239 (GRCm39) |
D9G |
probably damaging |
Het |
| Tapt1 |
T |
G |
5: 44,334,448 (GRCm39) |
L514F |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,249,168 (GRCm39) |
L480P |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,423,227 (GRCm39) |
G637A |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,411,525 (GRCm39) |
N950K |
probably benign |
Het |
| Tgfbrap1 |
T |
G |
1: 43,098,289 (GRCm39) |
H497P |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,110,986 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,902,522 (GRCm39) |
H1002P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,593,571 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
C |
G |
5: 87,041,591 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
G |
19: 27,215,663 (GRCm39) |
D220G |
possibly damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,589,121 (GRCm39) |
Y144* |
probably null |
Het |
| Xrcc4 |
T |
C |
13: 90,140,594 (GRCm39) |
E205G |
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 |
|
|
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'- TCAGCCTTTAACACGCATAGGTTTTGT -3'
(R):5'- ACCAAGGGTATGTAGTGAGCACTCAA -3'
Sequencing Primer
(F):5'- CGCATAGGTtttgtttgtttgtttg -3'
(R):5'- GGGTATGTAGTGAGCACTCAATTATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation