Incidental Mutation 'R6084:Cc2d2a'
| ID |
482370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
044243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R6084 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43826015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 2
(N2K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
AA Change: N2K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: N2K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
| 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: ENSMUST00000142303
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,828,297 (GRCm39) |
D958G |
possibly damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,259 (GRCm39) |
T161A |
probably benign |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,374,720 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,268,832 (GRCm39) |
A307S |
probably benign |
Het |
| Cbln4 |
A |
T |
2: 171,884,016 (GRCm39) |
V68E |
probably damaging |
Het |
| Ccnf |
T |
A |
17: 24,450,811 (GRCm39) |
D389V |
probably damaging |
Het |
| Cdipt |
T |
C |
7: 126,578,773 (GRCm39) |
S161P |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,812 (GRCm39) |
I161V |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,959,564 (GRCm39) |
I862T |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,019 (GRCm39) |
L230Q |
probably benign |
Het |
| Chac2 |
G |
A |
11: 30,936,159 (GRCm39) |
R30W |
probably damaging |
Het |
| Cmc2 |
G |
A |
8: 117,616,566 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,505,840 (GRCm39) |
M1L |
probably benign |
Het |
| Cox8a |
C |
A |
19: 7,194,783 (GRCm39) |
R32L |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,435,708 (GRCm39) |
N1083Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,504 (GRCm39) |
D132G |
probably damaging |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,527,212 (GRCm39) |
D358G |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,089,101 (GRCm39) |
L888P |
probably damaging |
Het |
| Dysf |
T |
A |
6: 83,996,586 (GRCm39) |
F29L |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,151,643 (GRCm39) |
D277G |
probably damaging |
Het |
| Ecm2 |
T |
A |
13: 49,668,570 (GRCm39) |
L91* |
probably null |
Het |
| Foxs1 |
T |
C |
2: 152,774,762 (GRCm39) |
D97G |
possibly damaging |
Het |
| Frs2 |
A |
C |
10: 116,912,714 (GRCm39) |
|
probably null |
Het |
| Grp |
A |
T |
18: 66,013,008 (GRCm39) |
D58V |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,988,616 (GRCm39) |
F537C |
probably damaging |
Het |
| Icam4 |
G |
A |
9: 20,940,835 (GRCm39) |
S29N |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,452,799 (GRCm39) |
E523G |
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,217,600 (GRCm39) |
K359E |
probably damaging |
Het |
| Katnip |
G |
A |
7: 125,414,037 (GRCm39) |
G394R |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,729,449 (GRCm39) |
V490E |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,257,795 (GRCm39) |
M548I |
possibly damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,721 (GRCm39) |
Y197C |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,396,422 (GRCm39) |
N2381D |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,795,307 (GRCm39) |
W649R |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,893,360 (GRCm39) |
L542P |
probably damaging |
Het |
| Mboat2 |
A |
T |
12: 24,928,284 (GRCm39) |
H52L |
probably damaging |
Het |
| Mok |
C |
G |
12: 110,781,380 (GRCm39) |
S91T |
probably benign |
Het |
| Mtmr11 |
G |
T |
3: 96,075,400 (GRCm39) |
R360L |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,386 (GRCm39) |
|
noncoding transcript |
Het |
| Or1j13 |
A |
G |
2: 36,369,524 (GRCm39) |
V206A |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,734 (GRCm39) |
N202Y |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,437,162 (GRCm39) |
M107I |
probably benign |
Het |
| Or55b4 |
T |
C |
7: 102,133,596 (GRCm39) |
T244A |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,179 (GRCm39) |
H75Q |
possibly damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,623 (GRCm39) |
D121G |
probably damaging |
Het |
| Padi3 |
G |
T |
4: 140,523,154 (GRCm39) |
T292N |
probably damaging |
Het |
| Pard6g |
A |
C |
18: 80,160,420 (GRCm39) |
T178P |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,740,726 (GRCm39) |
Y2124N |
probably damaging |
Het |
| Plxdc1 |
G |
A |
11: 97,819,289 (GRCm39) |
T398I |
probably damaging |
Het |
| Prickle2 |
A |
T |
6: 92,393,829 (GRCm39) |
C225* |
probably null |
Het |
| Prmt2 |
G |
A |
10: 76,046,278 (GRCm39) |
T317I |
probably benign |
Het |
| Psg22 |
T |
G |
7: 18,453,705 (GRCm39) |
N172K |
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,940,447 (GRCm39) |
R196* |
probably null |
Het |
| Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
| Rapgef4 |
T |
A |
2: 72,026,622 (GRCm39) |
|
probably null |
Het |
| Rlf |
A |
T |
4: 121,006,412 (GRCm39) |
M856K |
possibly damaging |
Het |
| Rnf149 |
A |
G |
1: 39,616,255 (GRCm39) |
L34P |
probably benign |
Het |
| Rock1 |
T |
C |
18: 10,101,007 (GRCm39) |
E636G |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,738,838 (GRCm39) |
H563R |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,680,110 (GRCm39) |
M102V |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,224,989 (GRCm39) |
C377S |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,492,496 (GRCm39) |
V293A |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,957,888 (GRCm39) |
S80T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,298,994 (GRCm39) |
E1031K |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,067,889 (GRCm39) |
V121I |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,088,373 (GRCm39) |
T1430S |
probably damaging |
Het |
| Tecpr2 |
G |
T |
12: 110,895,543 (GRCm39) |
K343N |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,164 (GRCm39) |
I986F |
probably benign |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Ttll10 |
T |
A |
4: 156,129,814 (GRCm39) |
D283V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,645,123 (GRCm39) |
K673* |
probably null |
Het |
| Ubqlnl |
T |
A |
7: 103,797,905 (GRCm39) |
M531L |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,721 (GRCm39) |
W153R |
probably benign |
Het |
| Vmn2r2 |
A |
C |
3: 64,024,467 (GRCm39) |
S705A |
probably benign |
Het |
| Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,366,205 (GRCm39) |
Q243L |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,043,504 (GRCm39) |
R109S |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,930 (GRCm39) |
M107V |
probably benign |
Het |
| Zfp426 |
G |
T |
9: 20,381,923 (GRCm39) |
Q341K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,672 (GRCm39) |
K314* |
probably null |
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 |
|
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 |
|
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'- CATTCTGGCTGAGGTTCATCTG -3'
(R):5'- ACCTGCCACTGTCTGATTGTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation