Incidental Mutation 'R5905:Cc2d2a'
| ID |
456500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
044102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R5905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43869768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 890
(M890L)
|
| 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: M939L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: M939L
| 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: M890L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: M890L
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.9%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
A |
3: 36,533,718 (GRCm39) |
|
probably null |
Het |
| Acat1 |
A |
T |
9: 53,503,366 (GRCm39) |
Y158N |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,260,561 (GRCm39) |
A924E |
probably damaging |
Het |
| Alad |
G |
T |
4: 62,428,359 (GRCm39) |
T305K |
probably benign |
Het |
| Als2cl |
G |
T |
9: 110,727,152 (GRCm39) |
R906L |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,558,761 (GRCm39) |
N281S |
possibly damaging |
Het |
| Arf4 |
A |
G |
14: 26,375,079 (GRCm39) |
T113A |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,993,914 (GRCm39) |
D438G |
probably damaging |
Het |
| Cachd1 |
C |
A |
4: 100,840,753 (GRCm39) |
N905K |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,568,959 (GRCm39) |
M877K |
possibly damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,541 (GRCm39) |
H529L |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,370,314 (GRCm39) |
D160E |
probably damaging |
Het |
| Chd7 |
C |
A |
4: 8,840,553 (GRCm39) |
N1440K |
possibly damaging |
Het |
| Cntln |
T |
A |
4: 84,889,410 (GRCm39) |
S298T |
probably benign |
Het |
| Cplx3 |
A |
G |
9: 57,515,546 (GRCm39) |
I443T |
probably damaging |
Het |
| Dmap1 |
G |
T |
4: 117,533,963 (GRCm39) |
T132K |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,918,659 (GRCm39) |
G3424E |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,387,979 (GRCm39) |
M3146K |
probably damaging |
Het |
| Egfr |
A |
T |
11: 16,861,494 (GRCm39) |
E1091V |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,937,746 (GRCm39) |
F422S |
possibly damaging |
Het |
| F2r |
A |
G |
13: 95,741,121 (GRCm39) |
V138A |
possibly damaging |
Het |
| Faf1 |
T |
A |
4: 109,748,126 (GRCm39) |
M477K |
probably benign |
Het |
| Fam149b |
C |
T |
14: 20,409,978 (GRCm39) |
T235M |
probably benign |
Het |
| Fan1 |
C |
A |
7: 64,003,399 (GRCm39) |
A808S |
probably benign |
Het |
| Fbxl20 |
A |
G |
11: 98,006,271 (GRCm39) |
I38T |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,581,478 (GRCm39) |
T177K |
probably benign |
Het |
| Gm9747 |
T |
C |
1: 82,212,019 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,821,397 (GRCm39) |
D354G |
probably benign |
Het |
| Grk4 |
A |
C |
5: 34,869,074 (GRCm39) |
Y189S |
probably damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,199,706 (GRCm39) |
N63D |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,188,837 (GRCm39) |
K25N |
probably null |
Het |
| Hrc |
G |
A |
7: 44,985,658 (GRCm39) |
G270S |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,191,893 (GRCm39) |
W5R |
probably benign |
Het |
| Lipm |
T |
C |
19: 34,089,311 (GRCm39) |
S90P |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,575 (GRCm39) |
E415D |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,081 (GRCm39) |
S2296T |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,323,614 (GRCm39) |
S537P |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,287,555 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
A |
16: 13,945,113 (GRCm39) |
Q1252L |
probably damaging |
Het |
| Mc3r |
A |
T |
2: 172,091,129 (GRCm39) |
D117V |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,782,982 (GRCm39) |
V448A |
possibly damaging |
Het |
| Mical1 |
A |
T |
10: 41,362,873 (GRCm39) |
M973L |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,280,443 (GRCm39) |
T176A |
probably benign |
Het |
| Nacc2 |
A |
G |
2: 25,951,590 (GRCm39) |
V415A |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,083,243 (GRCm39) |
T1639I |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,488 (GRCm39) |
H485R |
possibly damaging |
Het |
| Nlrp9a |
C |
T |
7: 26,257,762 (GRCm39) |
T460I |
probably benign |
Het |
| Or10p21 |
A |
T |
10: 128,847,156 (GRCm39) |
M1L |
probably benign |
Het |
| Or52z15 |
T |
A |
7: 103,332,781 (GRCm39) |
N285K |
probably damaging |
Het |
| Or56b35 |
T |
C |
7: 104,964,158 (GRCm39) |
Y316H |
probably benign |
Het |
| Or8g24 |
T |
A |
9: 38,989,379 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8k32 |
T |
A |
2: 86,369,113 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or9s13 |
T |
A |
1: 92,547,864 (GRCm39) |
C79S |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,693,824 (GRCm39) |
L68Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,730,399 (GRCm39) |
|
probably benign |
Het |
| Pcsk2 |
T |
A |
2: 143,591,060 (GRCm39) |
Y186N |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,764,246 (GRCm39) |
T435A |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,085 (GRCm39) |
D270G |
probably benign |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Popdc3 |
A |
G |
10: 45,194,015 (GRCm39) |
D272G |
probably benign |
Het |
| Prr5 |
A |
T |
15: 84,626,178 (GRCm39) |
K84N |
possibly damaging |
Het |
| Prss36 |
T |
C |
7: 127,532,744 (GRCm39) |
D716G |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,712,161 (GRCm39) |
D547E |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,526,972 (GRCm39) |
I719F |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,344 (GRCm39) |
W51R |
probably damaging |
Het |
| Snrpb |
T |
A |
2: 130,021,196 (GRCm39) |
|
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,674,646 (GRCm39) |
E148G |
probably damaging |
Het |
| Strbp |
G |
A |
2: 37,515,267 (GRCm39) |
T253I |
probably damaging |
Het |
| Sult1d1 |
A |
T |
5: 87,707,685 (GRCm39) |
M145K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,036,141 (GRCm39) |
D74G |
probably benign |
Het |
| Taf5l |
A |
C |
8: 124,729,714 (GRCm39) |
|
probably null |
Het |
| Tas2r131 |
T |
G |
6: 132,934,639 (GRCm39) |
I57L |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,108,176 (GRCm39) |
N77S |
possibly damaging |
Het |
| Tmem253 |
A |
G |
14: 52,255,268 (GRCm39) |
T57A |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,786,730 (GRCm39) |
K3170R |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,941,111 (GRCm39) |
N130S |
probably damaging |
Het |
| Vmn1r216 |
C |
T |
13: 23,283,367 (GRCm39) |
L17F |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,698 (GRCm39) |
T334S |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,229,821 (GRCm39) |
A901E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,284,275 (GRCm39) |
T947A |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,520,135 (GRCm39) |
P419L |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,549 (GRCm39) |
S258P |
probably damaging |
Het |
| Zfp354c |
T |
C |
11: 50,706,253 (GRCm39) |
Y274C |
probably damaging |
Het |
| Zfp652 |
G |
A |
11: 95,640,689 (GRCm39) |
A205T |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,563 (GRCm39) |
T388A |
unknown |
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 |
|
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'- TTGGAAAGTATCTGCCCGCC -3'
(R):5'- TACTCAAATGGCGTCGCATCC -3'
Sequencing Primer
(F):5'- GCTACCAGTGGTGAATCCTATGTC -3'
(R):5'- AAATGGCGTCGCATCCTTGAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation